ob gyn visit with period

If You Get Your Period Before an Ob-Gyn Appointment, Here's What a Doctor Says to Do

If you got your period right before an ob-gyn appointment (it always has the best timing!), you wouldn't be the first to wonder if it's an issue.

Annual check-ups, pap smears, and appointments for issues like yeast infections and bacterial vaginosis typically require pelvic exams. Your doctor will have you put your feet in the stirrups, insert a speculum to widen your vagina, and visually inspect your vagina and cervix. For some appointments, they'll need to gather cell samples from your vaginal fluid, and it's only logical to wonder whether period blood can get in the way of that.

"If you're going for your annual exam, yes, 100 percent, it is fine to go during your period," said Leah Millheiser, MD, ob-gyn and director of the Female Sexual Medicine Program at Stanford Health Care. That can even include getting a pap smear done. Traditional guidelines typically asked for patients to wait until after their period was over for this exam, but according to Dr. Millheiser, newer pap smears (also called pap tests) can assess your cells even in the presence of blood. You can always check with your provider if you're unsure, but "if your appointment is already scheduled and you have your period, there's no reason to cancel it," Dr. Millheiser said.

For yeast infections and bacterial vaginosis examinations, Dr. Millheiser said, your doctor will need gather a sample of your vaginal discharge. They'll place the fluid on a slide and examine the cells under a microscope to reach a diagnosis, and "sometimes, if there's blood present, that can interfere in the doctor's ability to read that slide," Dr. Millheiser explained. Unless your symptoms are severe, it may be best to wait until after your period is over to have those tests done, so you can ensure the results are readable and accurate. That said, if the symptoms are uncomfortable or difficult to deal with, Dr. Millheiser advised seeing your doctor sooner rather than later, even if you're still on your period.

If you are going to the ob-gyn on your period, Dr. Millheiser said you can leave your tampon or menstrual cup in until right before the exam. Other than that, though, there are no special procedures or things to do before heading into the office, and you definitely shouldn't feel embarrassed or awkward in front of your healthcare provider. After all, they're an ob-gyn; they know what to expect from a women's menstrual cycle. Unless you yourself don't feel comfortable with it (or would rather stay home nursing your cramps in peace — understandable!), it's OK to keep your appointment on the schedule. "In general, having your period and going to the gynecologist is not a big deal at all," Dr. Millheiser said. "It's perfectly fine, and you should go."

• Healthy Living

Can you get a Pap smear or pelvic exam on your period?

If you’ve scheduled an appointment with your gynecologist and you’re on your period, there is no need to cancel the appointment.

Story by: Norton Healthcare on November 4, 2022

The answer is yes!

If you’ve scheduled an appointment with your gynecologist and you’re on your period, there is no need to cancel the appointment. Normal vaginal bleeding should not get in the way of a Pap smear or pelvic exam. “An OB/GYN still can perform an exam when you’re on your period, but it’s also OK to reschedule the appointment if you are feeling uncomfortable,” said Rosemary C. Sousa, M.D. , OB/GYN with Norton Women’s Care. “Menstrual bleeding shouldn’t impact important tests we do during an exam, such as a Pap smear, pelvic exam or STI [sexually transmitted infection] testing.”

What should you do on the day of the appointment?

First of all, there is no need to feel embarrassed. After you check in for your appointment and a medical assistant takes you to the exam room, let them know that you are on your period. You can remove your tampon, pad or menstrual cup in the restroom. Inside the exam room, pads are available to lay underneath you if needed. A swab may be used to remove remaining menstrual blood inside the vaginal canal so the provider can check that everything looks healthy. Otherwise, the exam should proceed completely as normal. The most important aspect of a gynecological visit is that you, the patient, feels comfortable. If you have heavy bleeding or cramps, it’s OK to cancel the appointment — however, your provider should be made aware that you are experiencing any painful or abnormal symptoms.

The bottom line

It’s totally normal to talk about your menstrual health with your gynecologist; and if you are on your period, you should feel comfortable enough to attend the appointment without feeling embarrassed. If you decide to cancel the appointment, be sure to reschedule it. A Pap smear and pelvic exam can be lifesaving screenings that can impact your overall health and fertility.

Norton Women’s Care

Our team of OB/GYNs tailor care for each patient’s individual needs — including menstrual health and beyond.

Call (502) 629-GYN (4496)

Request an appointment online

Schedule an Appointment

Select an appointment date and time from available spots listed below.

• Conditionally
• Newsletter Signup

Health Conditions Chevron

Sexual and Reproductive Health Chevron

10 Things to Know Before Your First Gyno Exam

By Kristin Canning

If you have a vagina , there will come a time when you have to see a gynecologist —it’s an essential part of maintaining your health. But that first gyno exam can seem totally foreign—and even scary. The thought of discussing sensitive health topics and letting a total stranger examine your vagina might make you want to skip the appointment altogether.

But here’s the thing: Seeing an ob/gyn doesn’t have to be intimidating or uncomfortable; in fact, it can even be pretty damn empowering. Below, you’ll find exactly what you can expect from your first ob/gyn appointment—including how to best prep for it, how to stay calm when you’re feeling uneasy, and how to leave feeling confident about your sexual and reproductive health.

The American College of Obstetricians and Gynecologists (ACOG) recommends girls have their first ob/gyn appointment between the ages of 13 and 15, with a yearly wellness visit after that. You might have specific things to bring up with your doctor during your first appointment, like period issues, birth control options, and testing for sexually transmitted infections .

It’s smart to be clear about why you’re seeing the ob/gyn, Lauren Streicher, M.D. , associate professor of obstetrics and gynecologist at Northwestern University and author of Sex Rx: Hormones, Health, and Your Best Sex Ever , tells SELF. That way, you can make sure to discuss everything on your mind and be a better advocate for yourself. “For a new patient, most doctors will schedule 20 to 30 minutes,” says Dr. Streicher. “If you prepare before you get there, you can maximize your time and get your questions answered.” Plus, preparing can help you combat pre-exam nerves.

Regardless of your age, a medical professional will do a general physical exam to check your height, weight, and blood pressure before an ob/gyn checks you out.

Your doctor typically won’t perform a pelvic exam to check out your reproductive organs during your first ob/gyn visit. The exception is if you’re sexually active, want STI testing, or have other health concerns like abnormal bleeding or very painful periods .

If you’re 21 or older, however, a pelvic exam is recommended, along with a Pap test . During a Pap test, your doctor will swab your cervix (the lower portion of your uterus that connects to your vagina) to collect a sample of cervical cells to check for abnormalities that could indicate cervical cancer (which is rare and often treatable, so try not to stress!).

Your ob/gyn may also perform a breast exam. Even though young women have a low breast-cancer risk, your doctor will likely use this as an opportunity to show you how to examine your breasts and identify any changes, says Dr. Streicher.

A typical pelvic exam consists of three parts, according to the ACOG. The first is an external genital exam to look at your vulva, which includes everything you can see on the outside of your body, like your labia, clitoris, and the opening of your vagina. If your doctor offers you a mirror so you can see what’s up down there—or if you want to request one—don’t be shy! An ob/gyn visit is the perfect time to make sure you know the name, location, and purpose of all the parts of your vulva.

By Marygrace Taylor

By Julia Sullivan

By Korin Miller

Your doctor will also perform a vaginal and cervical exam with a speculum, which is a device they’ll insert into your vagina and expand to get a better view of your vaginal walls and cervix. While the speculum is inserted, your doctor will use a soft brush or a flat scraping device to take samples for your Pap test and to test for certain STIs.

Real talk: This part can be kind of weird. “Most people are uncomfortable with the speculum,” Mary Jane Minkin, M.D., professor of obstetrics and gynecology at Yale School of Medicine and creator of MadameOvary.com , tells SELF. Pro tip: Speculums come in different sizes, so if you’re worried about it hurting, you can let your doctor know and ask them to try something smaller. “And if you feel pinching or pain, you can say something,” says Dr. Streicher. The good part is that a speculum only needs to be in your vagina for around a minute for a doctor to perform a thorough exam, William Schweizer, M.D. , clinical associate professor of obstetrics and gynecology at New York University Langone Health, tells SELF.

Once that’s done, your doctor will conduct a bimanual exam to study your reproductive organs. With a hand on your lower abdomen, they’ll insert one or two of their gloved, lubricated fingers into your vagina and feel around to make sure your uterus and ovaries are healthy. This is another part that can make people anxious, but it also only takes around a minute, Dr. Schweizer says.

Most doctors don’t require a pelvic exam to prescribe birth control —they’re able to make an informed decision based on your medical history and personal habits. If you’re curious about birth control options, they’ll start by asking questions about your behavior and preferences to help figure out what’s best for you. For example, pills might not be a great option if you know you’re super forgetful, Dr. Minkin says, so your doctor may recommend a “set it and forget it” method like an IUD or an implant that can last anywhere from 3 to 10 years, depending on the type. For some methods, you can usually walk out of the office with a prescription that day.

Though you might feel exposed during your first gyno exam, remember that your doc isn’t judging any aspect of your body, whether it’s your pubic hair or the length of your labia. Their purpose is to evaluate you medically, full stop. “We really don’t care, we’ve seen it all, and honestly, we barely notice,” says Dr. Streicher. If you’re able to, you can shower and rinse your labia with water before an appointment (no douching or perfume, though, because that can boost your risk of irritation or infection). If you can’t do this, it’s so not a big deal.

You also don’t need to worry about being on your period unless you’re specifically going to have your doctor examine your discharge, adds Dr. Streicher. Having your period may also affect the results of your Pap test or any STI testing, so you should give your doctor’s office a call to see if it still makes sense to come in or if you should postpone your appointment.

You’ll need to know the first day of your last period , so make sure you’re keeping track of that in the month leading up to your exam. You should also mention any pain, cramps, heavy bleeding, irregularity, or mood changes you get with your period. Your ob/gyn can prescribe birth control to help with period symptoms or look for signs of conditions like endometriosis , a condition that can cause pain, heavy periods, and trouble getting pregnant.

Your doctor will also ask about your sexual activity. Don’t be afraid to be open and honest here—your ob/gyn will keep everything confidential and won’t judge you. “It’s their job to support you. You have to answer honestly because STI screening will be based on that,” says Dr. Schweizer. Keep in mind that your oral sex and anal sex history count here, too, as both can lead to STIs. If you’re worried you might be pregnant because you’re sexually active and you’ve missed a period, be honest about that, too, and ask your doctor for a pregnancy test.

Your doctor will ask you about any medical conditions you have, medications you’re on, and past surgeries. That stuff can be hard to remember, especially when you’re nervous, so it can help to write everything down beforehand, says Dr. Streicher. That includes any relevant dates.

They’ll also want to know your family’s medical history. “It’s especially helpful to know about your mom’s health history and any family history of blood clots, as that can inform what birth control methods are best for you,” says Dr. Minkin. Contraception that contains estrogen, like the combined hormonal birth control pill, may put users at a higher risk of blood clots, according to the Mayo Clinic. The risk is still really small overall, but there are options that pose less of a risk if you have a personal or family history of blood clots, like the arm implant, an IUD, and progestin-only pills.

Also, if you haven’t gotten your vaccine for human papillomavirus (HPV), now’s the time to ask about that. The vaccine protects against cancers caused by an HPV infection, including cancers of the cervix, vagina, and vulva, as well as cancers of the anus, back of the throat, and penis.

That starts from before you even arrive. You may find you’re more at ease talking to and being examined by either a male or female ob/gyn . It’s OK to research different medical practitioners in your area and choose based on who you think you’d feel most comfortable with. (Of course, you might be limited due to your insurance or one of your parent’s preferences, but it’s perfectly fine to do your best to choose who you’re going to see.)

Then, if you are anxious when you arrive or at any time in your appointment, tell your doctor, says Dr. Schweizer. “Let them know it’s your first time and you’re nervous. You can ask to have a nurse come hold your hand, or you can even bring in headphones and music if that helps.” If your doctor’s OK with it, you can also bring someone into the room with you—like a close friend or parent—if you need a little extra support, says Dr. Minkin.

You can even keep an eye on what the doctor is doing to ease your anxiety: “Sometimes it helps to see what the doctor is doing, so I offer to hold up a mirror if patients want to see what’s going on. And if you want to be told what I’m doing, step-by-step, I will,” says Dr. Schweizer. “It’s the doctor’s job to make you feel comfortable.”

If you got any tests done during your appointment, your doctor’s office may call to inform you of the results, or ask you to come in to review results or be retested. If you have STI testing, the results may be ready in a day to two weeks, says Dr. Minkin, and Pap test results typically come in one to two weeks.

Some offices won’t call you if your tests don’t show anything unusual, though, so be sure to clarify what you can expect before you leave your appointment. You can also sign off to have someone else, like a parent or close relative, get your test results if you’re super nervous.

Current guidelines only call for an pelvic exam every three years, though your doctor may suggest you get them more frequently, depending on your medical history or any health issues. But most women will go for a yearly wellness visit to renew their birth control prescription, have their well-woman visit, get STI testing, or check in on any other sexual health concerns they have. It’s especially important to get regular STI testing if you have new sex partners or if you’re having unprotected sex, says Dr. Minkin. Sometimes it’s difficult to get an appointment on an ob/gyn’s calendar, so it can be helpful to schedule your next appointment before you head out.

• Ob/Gyns Explain That Stuff in Your Underwear at the End of the Day
• 11 Vaginal Health Tips Ob/Gyns Actually Give Their Patients
• Is There Actually Any Way to Prevent Urinary Tract Infections?

SELF does not provide medical advice, diagnosis, or treatment. Any information published on this website or by this brand is not intended as a substitute for medical advice, and you should not take any action before consulting with a healthcare professional.

Irregular Periods and Your Annual Exam: Can You Have Your Annual Checkup While on Your Period?

Chapel Hill Obstetrics & Gynecology Abnormal Periods , Fibroids , Hormones & Menopause , Pap Smear Testing , Vagina: What's Normal, What's Not

Ideally, your annual exam and Pap smear should be conducted when you are not on your period. While heavy menses may possibly interfere with Pap smear interpretation, we generally can see someone when they are on their period, including a pelvic exam and successfully collect their Pap. Understandably, many patients are more comfortable to be examined when they are not on their period, and we are happy to reschedule if they request.

Annual Checkup While on Period

Even if you’ve taken care to schedule your annual exam for when you aren’t menstruating, we understand that if you have irregular periods, it may be difficult to accurately determine when they will start.  If you prefer, we can usually reschedule your appointment for when you are no longer on your period. If more convenient, you may also keep your original appointment as your period will typically not interfere with your examination.

”Irregular periods are very common. We always put the comfort of our patients first,” said Dr. Sonya Williams .

While the Pap smear and pelvic exam are an important part of your yearly exam, we also believe this is an ideal time to discuss your general wellness and sexual health. We care for the whole patient, and that’s why we want to know if you have any other health issues such as high blood pressure or high cholesterol. It is also a chance to review and discuss your lab work and conduct a clinical breast exam.

If your period came unexpectedly, we’d like to talk to you about that too. Painful, heavy or irregular menses can be indicative of another health problem. If you have an irregular period, you should keep a record of when it occurs, for how long and how heavy the flow is. This will be a useful tool that will help us determine the root of the problem.  

What constitutes an irregular period?

It’s very frustrating not knowing when you are going to have your period. It can cause problems planning vacations or other activities and can cause stress, worrying about what outfit to wear or if you could be pregnant. Your period should occur every 21 to 35 days and last up to seven days.  An irregular period comprises anything that is outside of this norm.

The following are also signs that you have an abnormal period:

• Periods that cause you to feel nauseated to the point of vomiting
• Flow that is heavier than usual
• Bleeding between periods
• Passing blood clots during your period
• Extremely painful periods with severe cramping — this is known as dysmenorrhea.

If your period has stopped completely, or you are a young woman who hasn’t had your first period by the age of 16, then you may be diagnosed with amenorrhea . This means you have gone 90 days or more without a period and you are not using contraception known to stop periods, pregnant, breastfeeding, or menopausal. If you have infrequent periods (those consistently greater than 35 days apart), then you may have oligomenorrhea. ( Cleveland Clinic )

You should speak with us if:

• You have skipped two periods and you are not pregnant
• You have recently had a heavier menstrual flow than what is normal for you
• Your periods last longer than seven days

What causes irregular periods?

Irregular menstrual cycles are most common around the time your first period starts and just before you begin menopause. However, there are many causes of irregular periods such as:

• Ovarian cysts
• Certain medications for anxiety or depression
• Certain birth control methods like IUDs
• Ovulation disorders
• Eating disorders
• Hormonal irregularities
• Thyroid problems

How are irregular periods treated?

First, we’ll review your medical history and perform a pelvic exam. Then, we’ll order blood tests to rule out other medical disorders such as thyroid problems or hormonal deficiencies.

Because fibroids, polyps and ovarian cysts can cause irregular periods, we may need to perform a pelvic ultrasound to check for them. If needed, we’ll perform an endometrial biopsy, removing sample tissue from your uterine lining. This helps us diagnose precancerous changes or even certain types of cancer.

Depending upon the diagnosis, treatment may include:

• Prescribing hormones such as progestin or estrogen. These can control heavy bleeding and also induce a period if you have not had one for several months.
• Taking low-dose birth control pills
• Using gonadotropin drugs, which can reduce the size of fibroids and also control heavy bleeding

We’ll work with you to create a treatment plan that addresses your concerns.

If you have your checkup scheduled and you’ve started your period, please contact us . Usually, we can easily reschedule you for another appointment within a week.  If that isn’t possible, we urge you to keep your appointment so we can discuss why you’re having an irregular menstrual cycle. Together, we’ll tailor a treatment plan that will enable us to treat the problem.

For more than 40 years, Chapel Hill OBGYN has served women in the Triangle area, sharing the joy of little miracles and supporting them during challenges. Our board-certified physicians and certified nurse midwives bring together the personal experience and convenience of a private practice with the state-of-the-art resources found at larger organizations. To schedule an appointment , please contact us for more information.

Cleveland Clinic. “Abnormal Menstruation (Periods)” Online.

https://my.clevelandclinic.org/health/diseases/14633-abnormal-menstruation-periods

Related Posts

Hormones & Menopause

Can an OBGYN Help You with Hormone Imbalance? 3 Ways

What Are Fibroids and How Do They Affect Your Health?

Fibroids , Heavy Periods

Important Guidelines for Intimacy After an Endometrial Ablation 

Jump to content

•   Home
• Find a Certified Physician
•  Search

Irregular Periods - When to Call Your OB GYN

When it comes to your period, there’s a range of normal. Some periods only last a couple of days. Others last up to a week. While every 28 days is the average, your periods may be anywhere between 21 and 35 days apart. 

However, if you’re suddenly going longer between periods, missing periods altogether, or bleeding in between, that isn’t always normal. In addition to pregnancy, a variety of factors can cause changes in your monthly cycle. Find out some of the most common causes and when you should visit your OB GYN.

Medical conditions

In some cases, conditions that result in an imbalance in hormones—like polycystic ovary syndrome or thyroid problems—cause irregular periods. Conditions such as uterine fibroids, endometriosis, or pelvic infections are also common. However, many other conditions cause changes to your period too. The best way to rule out a medical concern is to schedule a visit with your OB GYN. Once you know the cause, then your doctor can recommend treatment.

Birth control and medications

Some medications affect your cycle. For example, birth control pills or intrauterine devices (IUDs) can change your period. The U.S. Department of Health and Human Services says other medications can also lead to irregular periods, including those that treat epilepsy or mental health disorders. If notice changes to your period after starting a new medication, talk to your doctor. In some cases, you can continue your medication safely. However, if heavy or irregular bleeding is affecting your quality of life, your doctor may offer other options.

Perimenopause

If you’re entering midlife, perimenopause is a common cause of irregular periods. Perimenopause is the time of transition leading up to menopause—the end of your monthly period. During this time, your estrogen levels decline, creating a variety of symptoms. However, even in this stage of life, changes or missed periods can have other causes too. If you think you may be entering perimenopause, it’s a good time to visit your OB GYN and rule out any other concerns. 

After a baby

Another common time for irregular or missed periods is after having a baby. The normal return of your period after birth varies greatly. Once your period returns, it may take a few months for your monthly cycle to get back to a normal routine.  If you choose to breastfeed—especially consistently—it’s normal to go without a period for several months. In general, the La Leche League says most breastfeeding moms see their periods return between 9 to 18 months.

  Lifestyle factors

Your lifestyle choices may affect your period as well. For example, the Office on Women’s Health says studies show long-term stress can result in irregular periods. Women who participate in strenuous exercise may also notice cycle changes. Or an abrupt change to a strict diet might cause issues.   While some small variations in your cycle are normal, a sudden change in your period is often a sign of an overall change in your health. So, if you’re having changes in your cycle or if you go more than three months without a period, call your OB GYN. He or she can help you get to the root of your irregular periods. 

U.S. Department of Health and Human Services

La Leche League

Office on Women’s Health

Published on July 21, 2020

Browse More Articles on Reproductive Health

Becky DeLuca, APRN, C.N.P.

Obstetrics & gynecology (ob-gyn), prenatal care, recent posts.

• Behavioral Health
• Children's Health (Pediatrics)
• Exercise and Fitness
• Heart Health
• Men's Health
• Neurosurgery
• Obstetrics and Gynecology
• Orthopedic Health
• Weight Loss and Bariatric Surgery
• Women's Health

When should a female start seeing a gynecologist?

With several choices in health care professionals and specialties, determining whom to see and when can be confusing. As an OB-GYN, one of the most common questions I hear from patients is, “What are the differences between the services offered by an OB-GYN and Family Medicine?” The second most common question is, “When should my daughter start seeing an OB-GYN versus her pediatrician or family medicine professional?” Both are excellent questions. However, the answers are not as straightforward as one might hope.

OB-GYN or Family Medicine?

OB-GYN and Family Medicine can complete preventive health exams for women. Both departments can screen for health diseases. So when do you see a gynecology professional and when should you see a family medicine professional?

Family Medicine is best suited if:

• You have a chronic medical condition that requires medication or regular lab work, such as diabetes, high blood pressure or cholesterol, or chronic pain.
• You have an acute condition that might require antibiotics, such as ear infections, strep throat, cellulitis or upper respiratory symptoms.
• You have any new onset of pain or recent injury.

OB-GYN is best suited if:

• You have questions or concerns regarding the female reproductive system, including breasts, uterus, ovaries and vulva. It also can include some urological or gastrointestinal symptoms.
• You have menstrual, pregnancy, fertility or contraception questions or issues.
• You have sexual health concerns, such as libido, pain or abuse.

Some services provided by Family Medicine and OB-GYN overlap, such as birth control, thyroid disorder and mood changes. In these cases, it’s best to start with whomever you feel most comfortable with, and they can guide you further if your concerns cannot be addressed fully.

At what age should a female see an OB-GYN professional?

A female could see an ob-gyn beginning at age 11 if she has concerns with:.

• Delayed puberty (no breast tissue changes before age 14) or delayed menarche (no menstrual cycles before age 16)
• Painful menstrual cycles, especially if missing school or activities due to symptoms
• Unable to wear a tampon or questions about genital anatomy
• Any sexual health questions or contraceptive needs

For other young females, family medicine or pediatric professionals can address most other health needs, including general questions about puberty. Sports exams and immunization reviews are best in those departments.

When to begin Pap smears

It’s important to understand Pap smear screening recommendations continue to change over time as more is learned about HPV. As a result, many parents remain uncertain about when their daughter should begin this screening. The recommendation is to begin Pap smear screenings at age 21, regardless of sexual activity or birth control needs.

At times, a pelvic exam or evaluation of the genitalia might be warranted. But this is not for Pap smear screening purposes. Also, HPV vaccination is recommended during the early teenage years — before sexual activity — to help prevent cervical cancer. Your health care team can give you more information regarding HPV vaccination at your appointment.

Related Posts

Doctors Every Woman Needs

There are several doctors that women should see annually to ensure general wellness and prevent future health concerns.

This article is based on reporting that features expert sources.

Doctors That Women Should See

A woman's health care needs change throughout life. Still, consistent care from a trusted primary care provider, obstetrician-gynecologist and other specialists can help ensure that you get treatment for lifelong health concerns and help prevent future health issues.

When talking about women’s health, finding the right doctors is essential. Whether you're looking for regular checkups, prenatal care, preventive screenings, birth control guidance, pregnancy care or help with menopausal issues, having doctors who can adapt to a woman's unique and evolving needs is important.

Getty Images

Here are the main types of doctors women should visit regularly for their health, as well as some other specialists that you want to include as part of your health care team.

Doctors a Women Should See

Women's health is a broad category that includes health issues that are unique to women, such as menstruation and pregnancy, as well as conditions that affect both men and women, but that may affect women differently, such as heart disease and diabetes. Because women’s health encompasses so many conditions and activities, it typically requires seeing multiple types of doctors.

1. Primary care provider, PCP

A PCP is a health professional who handles your overall care needs. This person provides a bird's eye perspective, as opposed to focusing on just one organ system or medical problem like a specialist would, says Dr. Evelyn Darius, an Atlanta-based primary care physician for the telehealth platform PlushCare.

Dr. Chantel Strachan, a primary care physician with Columbia University Irving Medical Center in New York, says, "We are a person's 'home base,' assisting them in navigating our health care system."

Here are some of the things that a PCP can do for you:

• Check your vital signs, like your temperature, blood pressure and heart rate. Abnormal vital signs can alert your provider to a potential health problem.
• Order lab tests for routine screenings , like cholesterol . The screenings you need will change as you age and your risk for problems like diabetes or heart disease increases.
• Order cancer screening tests based on your age and medical history. This could include tests like a mammogram and bone density test.
• Manage chronic disorders such as high blood pressure , thyroid disorders and diabetes.
• Refer you to specialists as needed for in-depth care in specific areas of medicine. Examples of this might include a specialist in urogynecology or fertility .
• As you get care from other specialists, your primary care provider can help coordinate the care and make sure that you follow through on any recommendations, such as a recommended surgery or simply a follow-up appointment in six months.
• Review medications, or over-the-counter supplements , to ensure that they are right for you.
• Provide immunizations .
• Screen for depression and other mental health issues.
• Educate you on various health concerns and ways to prevent future health problems.
• Provide you updated information on vaccination against and prevention of COVID-19 .

In many cases, this person's title is primary care physician. However, nurse practitioners or physician assistants also can serve in this role, and in most states they work under the supervision of a physician. If your medical history is complex, it’s best that you work under the care of a physician.

You can find a primary care provider in several ways:

• Read online patient reviews. Use the doctor finder tool from U.S. News , which lets you search for a doctor by location, years of experience, patient reviews, insurance coverage and more.
• If you have health insurance, find out who in your area is covered under your plan.
• Ask friends or family for recommendations.

Some questions that a patient should ask their primary care provider about their health:

• Am I due for any bloodwork, vaccines or boosters? This includes, but is not limited to, the latest COVID booster .
• Am I due for any cancer screenings?
• Am I due for my bone density test?
• How can I quit smoking ?
• How can I improve my lifestyle?
• Should I be taking any vitamins or supplements ?
• Is my current list of medications right for me?
• I have a family history of heart disease or diabetes . Are there any steps I can take to reduce my risk?
• What steps can I take to maintain/obtain a healthy weight ?
• Am I at risk for certain conditions based on my own personal or family history?
• Do you perform gynecologic screenings?
• Do you do telehealth visits?

2. Obstetrician-Gynecologist, OB/GYN

A gynecologist is a doctor who specializes in women's health issues. An obstetrician specializes in the care of women who are pregnant, including their labor and delivery, explains Dr. Eva Chalas, an OB/GYN and professor with the Department of Obstetrics and Gynecology at NYU Long Island School of Medicine and former president of the American College of Obstetricians and Gynecologists.

You may often hear these specialists referred to as OB/GYNs. Not all gynecologists are obstetricians, but all obstetricians are gynecologists.

An OB/GYN can handle the following:

• Advise you on birth control methods .
• Perform breast and pelvic exams.
• Perform Pap smears to check for cervical cancer .
• Provide breast cancer screening.
• Screen for sexually transmitted infections .
• Treat sexual problems like low libido.
• Help with planning for pregnancy and answer fertility-related questions.
• Help with perimenopause and menopause care.
• Provide care for moms-to-be who are pregnant, or immediately after childbirth. This applies to a gynecologist also trained as an obstetrician. The OB/GYN "becomes the primary care provider of a pregnant woman," says Dr. Megan Gray, a board-certified OB/GYN with Orlando Health in Orlando, Florida.

Primary care providers also can assist with some of the roles above, such as providing Pap smears or ordering breast cancer screening . Ask your primary care provider what falls within their care range, compared to what you should rely on from an OB/GYN.

Some OB/GYNs also may be your primary care providers, if they are comfortable with that role. Most women should see their OB/GYN once a year, but follow any recommendations given by your OB/GYN for how often you should visit.

Questions a patient should ask their OB/GYN include:

• What types of exams or tests do I need based on my personal and family history?
• Should I be tested for a sexually transmitted infection or HIV ?
• Are there reasons I'm experiencing a reduced sex drive?
• Is it normal to feel (angry, depressed, bloated, or any other symptom concerning you) during my period ?
• What forms of birth control are best for me to prevent pregnancy?
• What should I expect as I approach menopause?
• Are there treatment options for menopausal symptoms ?

Dentists can help you maintain your oral health and improve or monitor for other health conditions. This includes heart disease, which is linked to poor oral health , Gray says. Women also are more likely to develop gum disease and other oral health issues because of changing hormone levels, says Dr. Kimberly Kilby, vice president and medical director for health and well-being at MVP Health Care, a regional health plan in New York and Vermont. Kilby is also a family and preventive medicine physician.

Plan to visit a dentist one to two times a year, or as often as the dentist recommends.

4. Eye Doctor

Just like your oral health, your eye health can reveal early signs of whole-body health problems, such as diabetes and high blood pressure. Both optometrists and ophthalmologists are eye doctors who can perform eye exams and prescribe contact lenses or glasses as needed.

• In your 20s, you should have at least one complete eye exam, the American Academy of Ophthalmology recommends.
• In your 30s, you should have two complete eye exams.
• You should also get a baseline eye exam at age 40. This is because as you age, your eyes will most likely experience more changes.
• Ask your eye doctor how often you should get eye exams beyond age 40.
• You should visit an eye doctor more frequently if you wear glasses or contacts, or you have a family history of eye disease, diabetes or high blood pressure.

5. Mental Health Professional

A mental health professional , such as a psychologist, psychiatrist or therapist, can help with anxiety , depression or conditions such as ADHD.

6. Dermatologist

As the body's largest organ, the skin and its health – even minor changes – can have major implications. Although primary care providers can do annual skin exams, they may recommend that you see a dermatologist if you are at a higher risk for skin cancer. Risk factors include having fairer skin, many moles or a family history of skin cancer. In addition, if you have a chronic hair, skin or nail condition, you should probably see a dermatologist.

7. Gastroenterologist

This specialist in digestive diseases may become part of your routine care starting at age 45, which is the latest recommended age to start screening for colon cancer, Darius says. Gastroenterologists can perform a colonoscopy to assess for colon cancer and provide follow-up treatment as needed. Some gastroenterologists will perform surgeries, such as bariatric surgery for weight loss or hernia repair surgery.

8. Geriatrician

If you're 65 or older, a geriatrician is a specialist who can manage complex health conditions more common in older patients. You can rely on the geriatrician to provide routine care, or you can have both a primary care provider and a geriatrician if you have more complex needs.

Tips for Better Women's Health

• If you have health insurance, check your coverage before visiting a practice you haven't been to before. Some insurances require a referral from your primary care provider before you see a specialist. If you don't have health insurance, ask the office about self-pay options.
• If you are a current or former smoker, talk to your primary care provider about associated health risks and the benefits of lung cancer screening. The deadliest cancer for women is lung cancer , Kilby says.
• Talk to your health care team about better ways to eat healthily and get regular exercise. These can help lower your risk for many chronic medical conditions, including heart disease and cancer, Chalas says.
• Write down any questions or concerns you have before your visit. "No question is a stupid question," Strachan says. "We are here to help and advocate for you."
• Women after menopause, are at increased risk for osteopenia and/or osteoporosis – conditions that cause bone loss. Bone loss over time can lead to an increased risk for fractures. Talk to your doctor about how to optimize your bone health and make sure you get screened for bone disease.

Exercises Women Should Do Every Day

The U.S. News Health team delivers accurate information about health, nutrition and fitness, as well as in-depth medical condition guides. All of our stories rely on multiple, independent sources and experts in the field, such as medical doctors and licensed nutritionists. To learn more about how we keep our content accurate and trustworthy, read our  editorial guidelines .

Chalas is an OB/GYN and professor with the Department of Obstetrics and Gynecology at NYU Long Island School of Medicine and former president of the American College of Obstetricians and Gynecologists.

Darius is a family medicine specialist with the virtual health platform PlushCare. She is based in Atlanta.

Kilby is vice president and medical director for health and well-being at MVP Health Care, a regional health plan in New York and Vermont. She is also a family and preventive medicine physician.

Strachan is a primary care physician with Columbia University Irving Medical Center in New York.

Tags: health , patients , patient advice , doctors , women's health

Most Popular

Patient Advice

health disclaimer »

Disclaimer and a note about your health », you may also like, finding the best orthopedic surgeon.

Elaine K. Howley May 3, 2024

Does Medicare Cover Ozempic?

Paul Wynn May 2, 2024

Is Mifepristone Safe?

Payton Sy May 1, 2024

Health Screening Tests Women Should Have

Angela Haupt and Gretel Schueller May 1, 2024

How to Find the Best OB-GYN for You

Elaine K. Howley and Gretel Schueller May 1, 2024

Early Miscarriage Symptoms

Claire Wolters April 30, 2024

11 Tips for Your First Mammogram

Elaine K. Howley April 29, 2024

Osteoporosis, Osteoarthritis, Osteopenia

Payton Sy April 29, 2024

Key Medicare Enrollment Deadlines

Joanne Kaldy and Vanessa Caceres April 26, 2024

LASIK Eye Surgery

Mariya Greeley and Elaine K. Howley April 26, 2024

• Search Please fill out this field.
• Manage Your Subscription
• Give a Gift Subscription
• Newsletters
• Sweepstakes

Teddi Mellencamp Thought She Was in Menopause but It Was 'Symptoms from the Copper IUD'

The 'Real Housewives of Beverly Hills' alum, 42, thought she was having “all the signs” of menopause

Ella Hovsepian/Getty

Teddi Mellencamp Arroyave is sharing why she mistook symptoms caused by her IUD for menopause. 

On April 30, the Real Housewives of Beverly Hills alum posted a video on Instagram asking her followers about the form of contraception after thinking she was in perimenopause at 42. Perimenopause refers to the time where the body starts to make its natural transition to menopause, which marks the end of a woman's reproductive years.

“So, I thought I was going through menopause or perimenopause because I was having all the signs,” she explained. “Finally I went in for my yearly OB/GYN check, I was for sure this was going to be the end and they were going to tell me, ‘You’re going through the change. That’s why you’re not sleeping. That’s why you’re constantly bleeding. That’s why you’re having mood swings.’ The list goes on and on.”

“But then my numbers came back and everything’s fine,” Mellencamp said. “And it’s potentially from my copper IUD. Guys, tell me about your symptoms from the copper IUD. Did this happen to you? And who would’ve thought I’m a spring chicken?”

According to the Cleveland Clinic , an IUD — or intrauterine device — “is a form of birth control that a healthcare provider inserts into your uterus” that can “prevent pregnancy for up to 10 years or more, depending on the specific type.“

Never miss a story — sign up for PEOPLE's free daily newsletter to stay up-to-date on the best of what PEOPLE has to offer, from celebrity news to compelling human interest stories.

Planned Parenthood states that copper IUDs typically cause more bleeding and cramps during your period, especially during the first 3-6 months. While those symptoms get better over time for most people, people are urged to talk to their doctor if they persist or become a bother.

“They may need to check and make sure your IUD is in the right place, or they might recommend a different method of birth control for you,” the nonprofit states.

In the caption of her post, Mellencamp added, “Also, the fact that @tedwinator [husband Edwin Arroyave ] thought this new information meant we would have another baby is hilarious.” 

“Shop is closed for business,” she teased.

In the comments section, a lot of women shared their personal experiences dealing with IUDs and other forms of contraception. Others also discussed their symptoms of perimenopause, encouraging Mellencamp to have another visit with her OB/GYN.

Related Articles

Study record managers: refer to the Data Element Definitions if submitting registration or results information.

Search for terms

• Advanced Search
• See Studies by Topic
• See Studies on Map
• How to Search
• How to Use Search Results
• How to Find Results of Studies
• How to Read a Study Record

• Learn About Studies
• Other Sites About Studies
• Glossary of Common Site Terms

• Submit Studies to ClinicalTrials.gov PRS
• Why Should I Register and Submit Results?
• FDAAA 801 and the Final Rule
• How to Apply for a PRS Account
• How to Register Your Study
• How to Edit Your Study Record
• How to Submit Your Results
• Frequently Asked Questions
• Support Materials
• Training Materials

• Selected Publications
• Clinical Alerts and Advisories
• Trends, Charts, and Maps
• Downloading Content for Analysis

• ClinicalTrials.gov Background
• About the Results Database
• History, Policies, and Laws
• ClinicalTrials.gov Modernization
• Media/Press Resources
• Linking to This Site
• Terms and Conditions
• Search Results
• Study Record Detail

TUC3PII-01_TU2670 Phase IIa Clinical Study

• Study Details
• Tabular View
• No Results Posted

Treatment Groups and Duration:

Following a washout period of up to 12 weeks, subjects will enter a screening period of up to 12 weeks including an observation period consisting of a complete menstrual cycle.

Subjects will be randomly assigned in a 1:1:1:1 ratio to receive either 12 weeks of TU2670 320 mg QD, TU2670 240 mg QD, TU2670 120 mg QD, or matching placebo. TU2670 or a matching placebo will be administered in the clinic on Day 1. Subjects in the PK subset population will also receive the following additional doses in the clinic: Day 2 (after collection of the 24-hour PK sample); the dose on the day scheduled for subsequent serial PK sample collection (Week 4 or Week 5); and the next scheduled dose (after collection of the 24-hour PK sample). All other doses can be taken by the subject at home. Following the end of treatment, subjects will be followed up for safety for 12 weeks.

Statistical Methods:

All formal statistical tests will be done at the 5% 2-sided significance level. Point estimates will have 2 sided 95% confidence intervals (CIs) where applicable.

Where appropriate, variables will be summarized descriptively (frequency and percent will be summarized for categorical variables; n (number of available subjects), mean, standard deviation [SD], median, minimum, and maximum will be presented for continuous variables) by study visit and by treatment group.

Statistical summaries will be presented for the changes from baseline to each time point in efficacy endpoints that it is applicable.

Inclusion Criteria:

• Independent Ethics Committee (IEC)-approved written informed consent/assent and privacy language as per national regulations must be voluntarily obtained from the subject.
• Premenopausal female subject, 18 to 45 years, inclusive
• Subject has moderate to severe endometriosis-related pain

Exclusion Criteria:

• Subject has used hormonal contraceptives or other drugs with effects on gynecological endocrinology within 12 weeks
• Subject has been nonresponsive to GnRH-agonist or antagonist therapy for the management of endometriosis.

• For Patients and Families
• For Researchers
• For Study Record Managers
• Customer Support
• Accessibility
• Viewers and Players
• Freedom of Information Act
• HHS Vulnerability Disclosure
• U.S. National Library of Medicine
• U.S. National Institutes of Health
• U.S. Department of Health and Human Services

• Open access
• Published: 09 August 2022

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies

• Elena E. Baranova 1 , 2 ,
• Olesya V. Sagaydak 1 ,
• Alexandra M. Galaktionova 1 ,
• Ekaterina S. Kuznetsova 1 ,
• Madina T. Kaplanova 1 ,
• Maria V. Makarova 1 ,
• Maxim S. Belenikin 1 ,
• Anton S. Olenev 3 &
• Ekaterina N. Songolova 4  

BMC Pregnancy and Childbirth volume  22 , Article number:  633 ( 2022 ) Cite this article

3491 Accesses

6 Citations

1 Altmetric

Metrics details

A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study—to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.

Based on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 – 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic.

258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations ( p  < 0.05) were revealed for fetal fraction (FF) and both for some patient’s (body mass index and weight) and fetus’s (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%.

Conclusions

NIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.

Peer Review reports

Infant mortality is a major medical and social problem, reflecting the quality of the public health system and the future of the country. The main unfavorable factors promoting to high infant mortality are low socioeconomic status of the country, low quality and availability of medical care, severe maternal, fetal or placental conditions, advanced maternity age [ 1 ]. The evolution of reproductive technologies over the last few decades has contributed to an advanced maternal age, which is associated with an increased fetal chromosomal anomaly rates and congenital diseases [ 2 ]. Among other reasons congenital diseases lead to as much as 20% of all infant deaths [ 3 ].

To evaluate and prevent fetus congenital disease, including chromosomal abnormalities, traditional first trimester screening is performed. It includes blood screening combined with an ultrasound examination in the first trimester of pregnancy. Fetus congenital disease can be well diagnosed by ultrasound examinations only from the 11th gestational week. Biochemical blood pregnancy marker risk assessment of chromosomal fetus anomalies is based on the human chorionic gonadotrophin (hCG), the free-β subunit of hCG, and the pregnancy-associated plasma protein (PAPP-A) blood tests. Though widely used biochemical assessment combined with ultrasound is still an indirect evaluation of chromosomal anomalies and results in a false positive rate of up to 5%, leading to increases number of invasive prenatal diagnostic (IPD) procedures [ 4 , 5 ].

To address these limitations, a new screening method, known as a non-invasive prenatal testing (NIPT), was introduced [ 6 ]. The method is based on the massive parallel sequencing of cell-free DNA (cfDNA) fragments derived from a maternal plasma [ 7 ]. The sensitivity of NIPT for most common trisomies including trisomies 21 (T21), 18 (T18), and 13 (T13) is high and reaches up to 99, 96 and 91%, respectively [ 8 ] with a false-positive results rate as low as 0.08% compared to traditional prenatal screening [ 9 ].

There are several types of NIPT – tests targeted on chromosomes of interest (usually 21, 18 and 13) and a whole genome NIPT, that allows to assess all chromosomes and its anomalies. Whole genome NIPT can be used to detect sex chromosome abnormalities and other anomalies, including rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs), though accuracy of the test for these anomalies is a bit lower due to the fact that RAAs are usually present as a placental mosaicism or a true fetal mosaicism. That could be associated with adverse pregnancy outcomes such as early miscarriage, intrauterine growth restriction, and in-utero fetal demise [ 10 ]. In nonmosaic form these chromosomal anomalies usually lead to a fetus death [ 11 ].

The American College of Obstetricians and Gynecologists (ACOG) originally suggested the use of NIPT for women previously determined to be in a high-risk group by traditional screening [ 12 ]. But it has been shown that the sensitivity and specificity of the test among all pregnant women are similar to those in the high-risk population [ 13 ]. Therefore, current international guidelines recommend the use of NIPT for prenatal screening during pregnancy for all women, regardless of the predetermined risk of fetal anomalies [ 5 , 13 ].

Until recently, in Russia NIPT was primarily a commercially available test used to supplement other screening approaches. On March 13, 2020, NIPT was included as a standard method for prenatal screening as part of a pilot project in Moscow [ 14 ]. The large-scale project was run by the Moscow City Healthcare Department with the participation of 23 prenatal care hospitals and one genetic laboratory. Since the beginning, work on national standards and clinical guidelines for NIPT has been ongoing. The aim of the study was to assess the efficiency of NIPT as a second-line first trimester screening test in Moscow. Preliminary results were published before [ 15 ]. The project is finished now, and its first results are presented.

Recruitment criteria

Pregnant women at high-risk of fetus chromosomal anomalies (cut-off ≥ 1:100) after the traditional prenatal screening were referred for genetic counseling, a IPD and a blood sampling for NIPT according the local regulation [ 14 ]. Blood test for NIPT was performed in the same day of the IPD (Fig.  1 ).

Recruitment criteria for samples that were able to undergo NIPT. *Low-risk group samples were not included into the study. **IPD is obligatory for a high-risk group of pregnant women and is optional for an intermediate-risk group. Abbreviations: NIPT, non–invasive prenatal testing; IPD, invasive prenatal diagnostic

Pregnant women at group of risk 1:101–1:2500 were as well offered to perform NIPT. When receiving a positive (high-risk) NIPT result, pregnant women were considered to undergo a genetic consulting and IPD.

Sample’s collection and blood preparation for sequencing

To perform NIPT 10.0 ml pregnant women peripheral blood samples were collected in STRECK (Cell-Free DNA BCT CE) tubes before IPD. Plasma was separated within 8 h following a double-centrifugation protocol. Tubes were stored temporarily (up to one week) at -20 °C before further processing or stored at – 80 °C for a long-term storage.

The cfDNA isolation, sample library preparation and DNA sequencing were performed according to manufacturer’s protocols. Each sample was sequenced using a BGISEQ-500 (China) platform. Sequencing reads were trimmed and aligned to a universal unique read set incised from the human reference genome (hg19, NCBI build 37). Combined GC-correction and z-score testing methods were used to identify fetal autosomal aneuploidies. The quality control parameters were as follows: the library concentration was higher than 4 ng/μL; the unique mapped reads number was higher than 6 × 106; the GC content was 38%–42%; and the fetal DNA fraction was higher than 3.5%. The original BGI proprietary software (HALOS NIFTY-2.3.2.1011) was used for a bioinformatic data processing.

Fetal fraction calculation

The fetus fetal fraction (FF) was calculated using the FF-QuantSC method, that employs neural network model and utilizes differential genomic patterns between fetal and maternal genomes [ 16 ].

NIPT results

The final report included a risk assessment for T21, T18, T13 and SCAs. Whole genome results for RAAs and clinically significant CNVs were included in the report optionally for women who consented to receive that information.

Invasive prenatal diagnostics

Pregnant women from the high-risk group as well as women with a fetal chromosomal abnormalities risk revealed by NIPT («positive» NIPT results) from the intermediate-risk group were advised to undergo IPD by amniocentesis or chorionic villus sampling (CVS) with a subsequent karyotyping and/or array-based comparative genomic hybridization (aCGH). IPD was also recommended for pregnant women with abnormalities during their second trimester ultrasound examination. CVS or amniocentesis were performed under sterile conditions and an ultrasound guidance in specialized medical hospitals in Moscow.

Karyotype analysis

For karyotype analysis, 10–20 ml of amniotic fluid was obtained by amniocentesis. The amniotic fluid cells with 4.5 ml medium (RPMI-1640, Paneco, Russia) were cultured in a 37 °C incubator with 5% carbon dioxide. The cells were harvested at 10–12 days. After colchicine treatment for 2 h, the cells were digested using 1:250 trypsin, and incubated with 0.075 M KCl for 30 min. The prefixation, fixation, dropping, baking, and G-band staining were performed next. A total of 100 dividing phases were counted using an all-chromosome image analysis system based on the “An International System for Human Cytogenetic Nomenclature, ISCN2016”.

Agilent SurePrint G3 human aCGH array 8*60 K chips were used for aCGH. DNA from amniotic fluid or chorionic villus after IPD was extracted (New iGENatal Kit, igen biotech, Spain). Agilent CytoGenomics (version 5.0) was used for data analyses. CNVs were classified through Online Mendelian Inheritance in Man (OMIM), Database of Genome Variants (DGV) and Decipher databases. Pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign categories were used for CNVs’ allocation. For VUS aCGH was further performed for parents to verify whether the CNVs were inherited from the parents with a normal phenotype. Inherited CNVs from the parents with a normal phenotype were considered as benign.

Statistical analysis was performed as described earlier [ 15 ]. The statistical software package Wizard 2 Version 2.0.4 (250) was used for data analyses.

All in all, 12,700 pregnant women blood samples were analyzed during the Apr.1, 2020 till Apr. 5, 2021 period (Fig.  2 ). The average pregnant women age was 34.4 ± 4.3 years. 53.2% (6756/12700) of pregnant women were in the advanced maternal age (35 and older). The average gestation period was 14 weeks and 1 day ± 1 week and 3 days. 36.7% (4655/12700) of pregnant women had a body mass index (BMI) above 25 kg/m 2 . The majority of pregnancies were spontaneous (96.1%, 12,198/12700) and singleton (98.5%, 12,512/12700) (Table 1 ).

Flowchart of non-invasive prenatal test (NIPT) results and invasive prenatal diagnostics outcomes of pregnant women undergoing screening for aneuploidies between 1 April 2020 and 5 April 2021. Abbreviations: T, trisomy; SCA, sex chromosomal aneuploidy; RAA, rare autosomal aneuploidy; CNV, copy number variation; aCGH, array comparative genomic hybridization

Blood samples of 502 (3.9%) women in the high-risk group and of 12,198 (96.1%) women in the intermediate-risk group were evaluated. Out of 12,700 samples in 346 (2.7%) cases blood retesting was recommended due to a low FF (below 3.5%).

NIPT results in high-risk pregnant women

Out of 502 women in the high-risk group (≥ 1:100) 148 (29.5%) were considered positive (high risk) by NIPT, and 347 women were considered negative (low risk) (Fig.  2 ). IPD results data is available only for 144 cases: 140 case was confirmed by IPD, 4 cases were not confirmed.

The following anomalies were confirmed by IPD in 140 cases: T21 (Down syndrome) in 93 cases, T18 (Edward syndrome) in 35 cases, T13 (Patau syndrome) in 4 cases, X-monosomy (Turner syndrome) in 3 cases, X-chromosome disomy with Y-chromosome monosomy (Klinefelter syndrome) in 1 case and Y-chromosome disomy (XYY syndrome) in 1 case, RAAs in 2 cases (T7 and T22), CNVs in 1 case (del7p14.1p11.2). In 2 cases different chromosomal anomaly was shown by IPD: in 1 case balanced translocation between chromosomes 14 and 22 was shown by IPD, when NIPT showed high risk for T22; in 1 case X triploidy by IPD was shown, when NIPT was positive for T18 and monosomy X.

NIPT results were not confirmed in 1 case for T18, in 1 case for T13 and 2 cases for trisomy of chromosome 16 (Fig.  2 ).

NIPT results in intermediate-risk pregnant women

Of the 12,198 cases in the intermediate-risk group (1:101 – 1:2500), 110 (0,9%) cases were considered NIPT positive. IPD results data is available for the group: 58 cases were confirmed by IPD, 52 cases were not confirmed.

The following anomalies were confirmed by IPD in 58 cases: T21 in 31 cases, T18 – in 3 case, T13 in 3 cases, X-chromosome monosomy (Turner syndrome) in 5 cases, X-chromosome disomy with Y-chromosome monosomy (Klinefelter syndrome) in 6 cases, X-chromosome monosomy with Y-chromosome disomy (XYY syndrome) in 2 cases, trisomy of X-chromosome in 1 case, RAA in 1 case (T8), CNVs in 6 cases.

NIPT results were not confirmed in 2 cases of T21, 4 cases of T13, 21 cases of SCAs and 19 cases of RAAs and 6 CNVs.

In the risk group, IPD was performed in 24 patients with negative NIPT due to their abnormal 2nd trimester ultrasound results: congenital malformations or ultrasound markers of fetus chromosomal pathology. According to the IPD results: 23 received a normal karyotype in the fetus, in 1 case a pathology was detected—46,XX,del (18)(p11.2)—a deletion of the short arm of chromosome 18 (false-negative result) (Fig.  2 ).

Secondary findings

Thirty-nine cases were considered positive for RAAs or CNVs by NIPT (7 cases in the high-risk group and 32 cases in the intermediate-risk group). The most common were T7 ( n  = 6), T16 ( n  = 4), T8 ( n  = 3) and T22 ( n  = 3). Thirty-seven women (5 cases in the high-risk group and 32 cases in the intermediate-risk group) proceeded with IPD, and chromosomal pathology was confirmed only in 10 cases (Fig.  2 ). These chromosomal anomalies are rare and are not detectable by widely used NIPT techniques.

NIPT performance

All in all, the following chromosomal abnormalities have been identified and confirmed: T21 in 124 cases; T18 in 38 cases; T13 in 7 cases; SCAs in 19 cases; RAAs or CNVs – in 10 cases. Comparison of NIPT and IPD results in detection of chromosomal abnormalities is presented in Table 2 . Totally, the rate of false-positive results was 0.3%.

IPD results and/or pregnancy outcomes are available for 9941 women, of whom 9737 had no fetal chromosomal abnormalities and 199 had prenatal and/or postnatal chromosomal abnormalities confirmation. On the basis of the NIPT results and the outcome data available, we calculated the performance of the test in detection of chromosomal anomalies. For T21, T18 and 13, SCAs, RAAs and CNVs the sensitivity was 100%, 100%, 100%, and 92.86%; specificity was 99.50%, 99.15%, 97.47% and 96.88%; positive predictive value (PPV) was 98.26%, 91.67%, 57.14% and 44.83%; negative predictive value (NPV) was 100%, 100%, 100% and 99.80%, respectively (Table 3 ).

To calculate NIPT performance parameters the “true positive” results were defined as positive NIPT results that were confirmed by IPD. The “false positive” results were defined as positive NIPT results for chromosomal anomaly that were shown to be negative by follow‐up IPD. The “true negative” results were defined as negative NIPT results confirmed by karyotyping or aCGH results. The “false negative” results were defined as negative NIPT results with an aneuploidy karyotype confirmed by IPD.

Association of results with fetal fraction

It was shown that FF differs between gestational weeks, p  < 0.001 (Fig.  3 ).

A density distribution of fetal fraction and its relationship with gestational weeks of pregnant women. The average fetal fraction in each week is shown by a black line

Also, it was revealed that samples with low FF (< 3.5%) were observed in women with significantly higher weight and BMI in comparison with women with normal FF: 77.5 kg [62.3;91.1] for low FF and 64.0 kg [58.2;74.4] for normal, ( p  < 0.001), BMI – 28.2 kg/m 2 [23.1;33.6] for low FF and 23.4 kg/m 2 [21.0;26.8] for normal, p  < 0.001 (Fig.  4 a).

The average level of fetal fraction for patients depending on the BMI ( a ), fetus sex ( b ) and NIPT results: risk of T21 ( c ) and T18 ( d ). Abbreviations: NIPT, non-invasive prenatal testing; T, trisomy; BMI, body mass index.

It was also shown, that the FF is significantly higher in women with male fetus, than female: 9.9% [7.4;13.2] and 6.8% [4.9;8.9], p  < 0.001 (Fig.  4 b).

It was also shown, that T21 positive NIPT results were associated with a higher FF, than samples with negative results: 10.4% [7.1;14.4] and 8.3% [6.0;11.2], p  < 0.001 (Fig.  4 c). The cut point for significant difference was 9.0% FF, p  < 0.001. For T18 it was shown vice versa – T18 positive NIPT results were associated with a lower FF, than samples with negative results: 7.1% [4.4;10.9] and 8.3% [6.0;11.3], p  = 0.048 (Fig.  4 d). The same tendency was not revealed for T13 probably due to a small number of samples.

NIPT results according to age and mode of conception

We found a significant difference between the age of women with positive and negative NIPT results for T21: 37 yr [33;40] for high T21 risk and 35 yr [31;38] for low risk, p  = 0.017. Summarizing all the positive NIPT results for all anomalies showed, that these were significantly higher in older women. Mean age of women with a high risk was 37 yr [32;40], and for women with a low risk – 35 yr [31;38], p  < 0.001.

There was no significant difference in frequency of positive NIPT results in spontaneous and in vitro fertilization pregnancies, p  = 0.212.

NIPT was first released in Hong Kong in August 2011 and soon after was introduced commercially in the US in October 2011 [ 17 , 18 , 19 ]. Afterward, in many countries, multiple companies and their distribution partners offered several NIPT tests to pregnant women, either in a commercial or in a state-regulated setting [ 20 ].

The current standard of care for prenatal screening in many high-income countries involves a ultrasound examination combined with biomarker serum screens in the first and/or second trimesters of pregnancy. Despite the fact that in some countries NIPT is performed as a commercial test, or with partial government funding, there is a certain international strategy for introducing NIPT into the structure of prenatal diagnostics. NIPT could be implemented into prenatal testing pipeline in different ways. The most commonly used are as a replacement for serum screening – a first-line test, and as an intermediate step between screening and invasive procedures – a second-line test. The most commonly used implementation model is a combined prenatal screening with the formation of high, intermediate and low risk groups, followed by NIPT in the high and/or intermediate risk group [ 21 ]. NIPT as a first-line test is performed to all pregnant women before an expert ultrasound in the first trimester of pregnancy and successfully used in Belgium and the Netherlands [ 22 , 23 , 24 , 25 ]. NIPT as a second-line test for pregnant women in high or intermediate risk groups determined by the results of combined prenatal screening implemented in some European countries (Germany, Great Britain, France, Italy etc.) [ 26 ]. The main advantage of introducing NIPT precisely as a second-line test is economic feasibility.

In Russia the effectiveness of NIPT integration in traditional prenatal screening as a second-line test was shown in the current study. NIPT showed clear accuracy and revealed 37 additional positive (high risk) cases in the intermediate group of pregnant women at risk, compared to traditional prenatal screening. These results included clinically significant CNVs, that were detected only because NIPT was based whole genome sequencing. CNVs are of particular importance because 20 to 30% of congenital diseases are associated with microdeletions and microduplications, which are not detected by traditional prenatal screening and standard cytogenetic studies [ 27 ].

The main NIPT advantages are its high sensitivity and specificity for common aneuploidies – T21, T18, T13. Multiple validation studies have reported NIPT high sensitivity (98.6%-100%) and specificity (99.7%-100%) for T21 in different populations [ 28 , 29 ]. Our results revealed high sensitivity and specificity both for the common trisomies, SCAs and RAAs/CNVs, which is comparable to other studies as well [ 30 , 31 ].

NIPT shows a very low rate of false-positive and false-negative results compared to traditional prenatal screening results. Several conditions have been known to contribute to false-positive and negative NIPT results: low FF, maternal CNVs and fetal/placental mosaicism are among them [ 32 ]. False-negative results are rare for NIPT, with a frequency of only 0.08% [ 22 ]. In our study we didn’t have false-negative results for common trisomies, SCAs and RAAs. CNVs false-negative rates was 0.008%.

The false-positive rate for common trisomies in our study reached 0.05%, that is much lower than that reported in other studies [ 33 ]. False-positive rate for RAAs and CNVs in our study was 0,09% and 0,04%, respectively. It is assumed that low positive predictive values as well as false-positive rate for CNVs detection are connected with their low frequencies in population.

More over to proven effects there is also one potential effect – decreasing the number of IPD performed in pregnant women. Among 366 women considered to be high risk by traditional prenatal screening, only 105 were confirmed to be high risk by NIPT. That means that 366 women were advised to undergo IPD, although only one third needed these invasive procedures. Currently, the decrease in the number of IPDs is only theoretical, since the regulation of prenatal screening in Russia does not take into account the results of NIPT, and all women at high risk after traditional prenatal screening are considered to undergo IPD.

NIPT has clinical, social and economic benefits. We found social NIPT benefits in its methodology and sample collection. NIPT is safe in blood sampling. Any surgical interventions for are not required. All these can diminish the patient’s anxiety level, which is quite important for pregnant women who may experience hormone-related emotional changes. Moreover, the low false-positive and false-negative rates results reported here and in previous studies [ 34 ], suggests that pregnant women can have high confidence in their NIPT results. In our study, we assessed women’s approaches towards NIPT. The results are processing.

Although NIPT is expensive to perform, its economic benefit manifests over an extended period. NIPT can decrease the direct and indirect costs by decreasing budget payments for the maintenance of people with disabilities.

However, despite the obvious advantages of NIPT adoption, there is a downside. The adoption of NIPT in many countries has led to a decrease in IPD procedures, which has had negative consequences, as some authors have proposed [ 35 ]. One report has suggested that a decline in IPD procedures causes a downturn in opportunities for physicians to practice the skills needed for IPD procedures, leading to significantly higher miscarriage rates associated with these procedures.

The accuracy of NIPT is affected by numerous factors both biological and technical and include the number of sequencing tags, FF, GC base content, and others. FF is a crucial quality control parameter for NIPT interpretation [ 36 ]. Low FF can result in a test failure or a “no call” result. In our study in 2.7% (346/12700) of cases FF was less than 3.5% and a blood sample redraw was required. Any biological factors that increase the maternal contribution and/or reduce the placental contribution may lower the FF [ 37 ]: feto-placental – gestational age, crown rump length, mosaicism, fetal aneuploidy, triploidy, multiple pregnancy, and maternal – maternal age, maternal weight, maternal autoimmune disease, low molecular weight heparin, ethnicity, mode of conception [ 38 , 39 ]. Maternal characteristics such as BMI and gestational age are the main factors that influence FF [ 40 ]. Previous data showed that FF below 4% increased with maternal weight from < 1% at 60 kg to > 50% at 160 kg [ 41 ]. Therefore, the clinical application of NIPT is limited by low FF of cfDNA in obese women. The rate of increase in FF is not constant across gestational age. From 10–12.5 weeks, 12.5–20 weeks, and > 20 weeks, the FF increases at rates of 0.44%, 0.083%, and 0.821% per week, respectively [ 42 ]. Waiting for a later gestational age and repeating blood sampling is not a reliable approach to overcome the low FF in subjects with higher BMIs and earlier gestational ages [ 43 ].

In our study, we analyzed the influence of some available parameters on FF and observed no significant differences between FF and maternal age, gestational age, mode of conception and type of pregnancy. However, we noticed a statistically significant decrease in FF with increased BMI and maternal weight.

In our study it was also shown, that higher FF was more common for male fetuses and for fetuses with high risk for T21, lower FF – for fetuses with high risk for T18. The same was also published in some other studies, showing that euploid male fetus pregnancies with high risk of T21 had higher FF [ 44 ]. For T18, T13 and monosomy X, vice versa other studies has shown lower FF. Higher FF in fetuses with T21 may be one of the reasons the test performance is better for T21 than for T18 and T13. In our study the cut-off for high T21 risk was 9.0% FF. We didn’t find any significant difference in FF for T13 and monosomy X, that is probably due to low incidence yet.

Pregnant women aged over 35 years are usually categorized as advanced maternal age [ 42 ]. It is reported that advanced maternal age is associated with various pregnancy complications, including infant chromosomal anomalies. It is known that such chromosomal abnormalities as T21, T18, T13, triple X syndrome, and XYY syndrome have a close association with maternal age [ 7 ]. However, pathogenic chromosomal deletions and duplications also occur de novo, and the risk of microdeletions and microduplications is the same for all pregnancies regardless of maternal age [ 45 ]. In our study, we detected a significantly higher risk of the genetic abnormalities in women aged 39 and older.

Some studies have also reported that even when the NIPT result was negative, many other chromosomal anomalies could be detected by other technical methods [ 46 ]. The major types of missed fetal abnormalities include structural (balanced or unbalanced) rearrangements, mosaic and triploidies [ 47 ]. Chena et al. declare that 12.4% of fetal chromosomal abnormalities will be missed if NIPT completely replaces IPD in advanced aged pregnant women [ 46 ]. In 2020 ACOG proposed prenatal screening for aneuploidy for all pregnant women, regardless of age or baseline risk factors [ 48 ], but NIPT cannot completely replace IPD in advanced maternal aged women.

NIPT as a second-line test in Moscow, Russia have shown its effectiveness. The major advantage of NIPT was safety, detection of additional chromosomal anomalies and reduction in false-positive rates. Moreover, our findings suggest that NIPT merits serious consideration as a primary screening method for fetal autosomal aneuploidy. NIPT should be recommended for all pregnant women in risk groups, but using it as a first-tier screening and diagnostic tool requires further study.

Limitations of the present study

Main limitations are lack of data due to women refused to undergo IPD and lack of information about pregnancies outcomes.

Availability of data and materials

The datasets generated during and analyzed during the current study are not publicly available due to prohibition of sending raw sequencing data to foreign repositories but are available from the corresponding author on reasonable request.

Abbreviations

Array-based comparative genomic hybridization

American College of Obstetricians and Gynecologists

Body mass index

Cell-free DNA

Copy umber variants

Chorionic villus sampling

Deoxyribonucleic acid

Fetal fraction

False negative

False positive

Glyceraldehyde-3-phosphate dehydrogenase

Human chorionic gonadotrophin

Invasive prenatal diagnosis

Non–invasive prenatal testing

Negative predictive value

Pregnancy-associated plasma protein A

Positive predictive value

Rare autosomal aneuploidies

True positive

True negative

Sex chromosomal aneuploidy

MacDorman MF. Race and ethnic disparities in fetal mortality, preterm birth, and infant mortality in the United States: an overview. Semin Perinatol. 2011;35(4):200–8.

Article   PubMed   Google Scholar  

Baranov AA, Namazova-Baranova LS, Belyaeva IA, Bombardirova EP, Smirnov IE. Medical and social problems of assisted reproductive technologies from the perspective of pediatrics. Vestn Ross Akad Med Nauk. 2015;3:307–14.

Article   Google Scholar  

Baranov AA, Namazova-Baranova LS, Albitskiy V, Terletskaya RN. Tendencies of infantile and child mortality in the conditions of implementation of the modern strategy of development of health care of the Russian Federation. Vestnic RAMN. 2017;72(5):375–82.

Google Scholar  

Sukhikh GT, Karetnikova NA, Baranova EE, Shubina ES, Korostin DO, Evdokimov AN, et al. Noninvasive prenatal diagnosis of aneuploidies by high-throughput sequencing (NGS) in a group of high-risk women. Obstet Gynecol (Moscow). 2016;6:129–57.

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–65.

Article   CAS   PubMed   Google Scholar  

Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):15–33.

Pös O, Budiš J, Szemes T. Recent trends in prenatal genetic screening and testing. F1000Res. 2019;8:F1000 Faculty Rev-764.

Article   PubMed   PubMed Central   Google Scholar  

Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.

Mackie FL, Hemming K, Allen S, Morris RK, Kilby MD. The accuracy of cell-free fetal DNA based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2017;124(1):32–46.

Neofytou M. Predicting fetoplacental mosaicism during cfDNA-based NIPT. Curr Opin Obstet Gynecol. 2020;32(2):152–8.

Pertile MD. Chapter 7: Genome-wide cell-free DNA-based prenatal testing for rare autosomal trisomies and subchromosomal abnormalities. In: PageChristiaens L, Klein H-G, editors. Noninvasive prenatal testing (NIPT) [Internet]. London, United Kingdom: Academic Press; 2018. p. 97–123.

Chapter   Google Scholar  

Noninvasive Prenatal Testing for Fetal Aneuploidy. Available from: http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Noninvasive-Prenatal-Testing-for-Fetal-Aneuploidy . Accessed July 28, 2014.

Porreco RP, Garite TJ, Maurel K, Marusiak B, Ehrich M, van den Boom D, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014;211(4):365.e1-12.

Article   CAS   Google Scholar  

Prikaz Minzdrava goroda Moscow № 199 ot 13.03.2020 «Ob organizatsii provedeniya neinvasivnogo prenatalnogo testa v gorode». https://www.mos.ru/dzdrav/documents/department-acts/view/237308220/ .

Olenev AS, Baranova EE, Sagaidak OV, Galaktionova AM, Kuznetsova ES, Kaplanova MT, et al. Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results. Rus Open Med J. 2021;10:e0110.

Yuan Y, Chai X, Liu N, Gu B, Li S, Gao Y, et al. FF-QuantSC: accurate quantification of fetal fraction by a neural network model. Mol Genet Genomic Med. 2020;8:e1232.

CAS   PubMed   PubMed Central   Google Scholar  

Lau TK, Chan MK, Lo PS, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience. J Matern Fetal Neonatal Med. 2012;25(10):1856–9.

Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn. 2013;33(6):521–31.

Chandrasekharan S, Minnear MA, Hung A, Allyse M. Noninvasive prenatal testing goes global. Sci Transl Med. 2014;6(231):231fs15.

Bianchi DW, Chiu RWK. Sequencing of circulating cell-free DNA during pregnancy. N Engl J Med. 2018;379:464–73.

Gil MM, Revello R, Poon LC, Akolekar R, et al. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol. 2016;47(1):45–52.

Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014;60(1):78–87.

van Schendel RV, van El CG, Pajkrt E, Henneman L, Cornel MC. Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions. BMC Health Serv Res. 2017;17(1):670.

Karuna RM, van der M, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, et al. TRIDENT-2: National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. AJHG. 2019;105:1091–101.

Neyt M, Hulstaert F, Gyselaers W. Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis. BMJ Open. 2014;4(11):e005922.

UK National Screening Committee non-invasive prenatal testing (NIPT) recommendation. January 2016; Department of Health and Social Care. The UK Strategy for Rare Diseases. 2020 update to the Implementation Plan for England. Published: 26 February 2020. https://www.gov.uk/government/publications/uk-strategy-for-rarediseases-2020-update-to-the-implementation-plan-for-england .

Hongtai L, Gao Y, Hu Z, Lin L, Yin X, Wang J, et al. Performance evaluation of NIPT in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma DNA. PLoS ONE. 2016;11(7):e0159233.

Liang D, Lin Y, Qiao F, Li H, Wang Y, Zhang J, et al. Perinatal outcomes following cell-free DNA screening in >32 000 women: clinical follow-up data from a single tertiary center and has relative lower sensitivities and specificities for T18, T13 and SCAs. Prenat Diagn. 2018;38(10):755–64.

Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, et al. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017;217(6):691.e1-691.e6.

Luo Y, Hu H, Jiang L, Ma Y, Zhang R, Xu J, et al. A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center. Eur J Med Genet. 2000;6(9):104001.

Ramdaney A, Hoskovec J, Harkenrider J, Soto E, Murphy L. Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making. Prenat Diagn. 2018;38(11):841–8.

Samura O, Okamoto A. Causes of aberrant non-invasive prenatal testing for aneuploidy: a systematic review. Taiwan J Obstet Gyn. 2020;59:16–20.

Wang Y, Li S, Wang W, Dong Y, Zhang M, Wang X, Yin C. Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma. Mol Cytogenet. 2020;13:10.

Article   PubMed   PubMed Central   CAS   Google Scholar  

Beaudet AL. Using fetal cells for prenatal diagnosis: History and recent progress. Am J Med Genet C Semin Med Genet. 2016;172(2):123–7.

Hui L, Tabor A, Walker SP, Kilby MD. How to safeguard competency and training in invasive prenatal diagnosis: ‘the elephant in the room.’ Ultrasound Obstet Gynecol. 2016;47(1):8–13.

Kinnings SL, Geis JA, Almasri E, Wang H, Guan X, McCullough RM, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing. Prenat Diagn. 2015;35(8):816–22.

Hui L, Bianchi DW. Fetal fraction and noninvasive prenatal testing: what clinicians need to know. Prenat Diagn. 2020;40(2):155–63.

Lau TK, Zhao L, Yi X, Yin Y, Wang W. Noninvasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45:530–8.

Livergood MC, LeChien KA, Trudell AS. Obesity and cell-free DNA “no calls”: is there an optimal gestational age at time of sampling? Am J Obstet Gynecol. 2017;216:413.

PubMed   Google Scholar  

Qiao L, Zhang Q, Liang Y, Gao A, Ding Y, Zhao N, et al. Sequencing of short cfDNA fragments in NIPT improves fetal fraction with higher maternal BMI and early gestational age. Am J Transl Res. 2019;11(7):4450–9 eCollection 2019.

Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41:26–32.

Ahkam GK, Abdurrahman Hİ, Emrah B, Suriye Ö, Adnan B. Effect of advanced maternal age on pregnancy outcomes: a single-centre data from a tertiary healthcare hospital. J Obstet Gynaecol. 2019;39(8):1104–11.

Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013;33:662–6.

Goldenberg P. An update on common chromosome microdeletion and microduplication syndromes. Pediatr Ann. 2018;47(5):e198–203.

Chena Y-P, Heb Z-Q, Shia Ye, Zhoua Q, Caia Z-M, Bin Yu, et al. Not all chromosome aberrations can be detected by NIPT in women at advanced maternal age: a multicenter retrospective study. Clin Chim Acta. 2018;486:232–6. https://doi.org/10.1016/j.cca.2018.08.018 .

Zhu Y, Shiming Lu, Bian X, Wang He, Zhu B, Wang H, et al. A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age. Taiwan J Obstet Gynecol. 2016;55(3):379–84. https://doi.org/10.1016/j.tjog.2016.01.002 .

Palomaki GE, Kloza EM. Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of down syndrome, and impact of repeat testing. Genet Med. 2018;20(11):1312–23.

Download references

Acknowledgements

The authors thank the members of Evogen genome sequencing team for help with sequencing.

This study is funded by grant № 01–04-410 from 06.02.2020.

Author information

Authors and affiliations.

LLC “Evogen”, Moscow, Russian Federation

Elena E. Baranova, Olesya V. Sagaydak, Alexandra M. Galaktionova, Ekaterina S. Kuznetsova, Madina T. Kaplanova, Maria V. Makarova & Maxim S. Belenikin

Federal State Budgetary Educational Institution of Further Professional Education “Russian Medical Academy of Continuous Professional Education” of the Ministry of Healthcare of the Russian Federation, Moscow, Russian Federation

Elena E. Baranova

Moscow City Health Department, City clinical hospital №24, Moscow, Russian Federation

Anton S. Olenev

Moscow City Health Department, City clinical hospital №67 named after L.A. Vorokhobova, Moscow, Russian Federation

Ekaterina N. Songolova

You can also search for this author in PubMed   Google Scholar

Contributions

EEB, OVS, ASO, ESK were involved in conception and design of the study. MSB, MTK and AMG performed the observations and the data collection. ESK and OVS performed a statistical data processing. ESK drafted the manuscript, MVM, OVS and EEB assisted with the manuscript and ASO and ENS revised the manuscript. All authors edited the manuscript and read and approved the final draft.

Corresponding author

Correspondence to Ekaterina S. Kuznetsova .

Ethics declarations

Ethics approval and consent to participate.

All participants signed informed written consent before a blood collection. The study received ethical approval from Moscow Independent Ethical Committee (MGEC). All methods were carried out in relevant regulations and guidelines.

Consent for publication

Not required.

Competing interests

The authors declare that they have no competing interests.

Additional information

Publisher’s note.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ . The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Reprints and permissions

About this article

Cite this article.

Baranova, E.E., Sagaydak, O.V., Galaktionova, A.M. et al. Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies. BMC Pregnancy Childbirth 22 , 633 (2022). https://doi.org/10.1186/s12884-022-04966-8

Download citation

Received : 10 March 2022

Accepted : 03 August 2022

Published : 09 August 2022

DOI : https://doi.org/10.1186/s12884-022-04966-8

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Non-invasive prenatal testing
• Prenatal screening
• Fetal aneuploidy
• Amniocentesis
• Rare autosomal trisomies

BMC Pregnancy and Childbirth

ISSN: 1471-2393

• Submission enquiries: [email protected]
• General enquiries: [email protected]