When can you take the nipt test

New guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend Non-Invasive Prenatal Testing (NIPT) be made available to all pregnant women, regardless of maternal age or baseline risk. Previously, only pregnant women at risk or over the age of 35 were offered NIPT to learn vital information about the health of their baby, as early as week 10 of their pregnancy.

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Types of prenatal testing
Types of screening tests
Questions to consider
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This is a huge win for parents-to-be.

Some of the country’s largest health care insurers look to the ACOG guidelines to determine their coverage. Many have not offered genetic testing benefits without restrictions, but this amended position could open doors for thousands of expecting parents.

Many NIPT tests leverage the power of next generation sequencing to analyze cell-free DNA from a maternal blood sample to screen for fetal aneuploidy, including common chromosomal conditions including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). NIPT is the most sensitive and specific screening test for chromosomal changes and could prevent the need for more invasive procedures, among others.

ACOG’s recommendations positively impact the quality of care for expectant mothers in more ways than one. Granting access to NIPT not only serves the main purpose of providing valuable insights about the health of a pregnancy, but it also streamlines and eases the testing procedure itself. It would also eliminate additional office visits for multiple screening tests—which is especially beneficial during the pandemic. Finally, the cfDNA test itself involves a single, simple blood draw.

“The cell-free DNA test is the best frontline aneuploidy screen for pregnant women,” said Jim Goldberg, Chief Medical Officer, Myriad Women’s Health. “It provides the most accurate, sensitive, and specific screening for the common aneuploidies—that is to say, it will give expectant families the most critical information possible today. It’s also the easiest and fastest noninvasive test available on the market. This is a huge win for parents-to-be.”

“We’re pleased to see ACOG’s new guidance that recognizes the superior performance of NIPT and the benefit it provides expectant families,” said Phil Febbo, M.D., Chief Medical Officer at Illumina. “Endorsing NIPT for all pregnant women will help expand insurance coverage and broaden access to the most accurate prenatal screening currently available.”

This kind of unprecedented access will empower more parents to prepare and make informed pregnancy decisions. Previously, that was not possible.

Endorsing NIPT for all pregnant women will help expand insurance coverage and broaden access to the most accurate prenatal screening currently available.

Ronald Wapner, MD, Vice Chair of Research in Obstetrics and Gynecology for Columbia University Irving Medical Center and Director of Reproductive Genetics, echoed the sentiments of Goldberg and Febbo and added, “The biggest advantage of NIPT in addition to its improved sensitivity is the incredibly small false positive rate which markedly reduces unnecessary anxiety for pregnant women.” This is especially true in the case of Erin Sanderson, a mother of two in Tyler, Minnesota.

“I asked for NIPT with both of my pregnancies but because I was under the age of 35 my insurance would not cover the cost,” said Sanderson. “A close family member had unexpected news of her baby’s development prior to birth and they were able to prepare. Knowing all the complexities of pregnancy and my anxious mind, I wanted to uncover any critical information so I could prepare emotionally and put medical specialists in place at delivery if necessary. As a family we wanted to know more so we could do more.”

Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's health. Understand the risks and benefits.

By Mayo Clinic Staff

Pregnancy is a time of great anticipation — and, sometimes, anxiety. You might worry that your baby will have health problems. While most babies are born healthy, it's important to understand your options for obtaining details about your baby's health.

Types of prenatal testing

The two main types of prenatal testing are:

Screening tests. Prenatal screening tests can identify whether your baby is more or less likely to have certain birth defects, many of which are genetic disorders. These tests include blood tests, a specific type of ultrasound and prenatal cell-free DNA screening. Prenatal screening tests are usually offered during the first or second trimester. Screening tests can't make a definitive diagnosis. If results indicate an increased risk for a genetic disorder, your health care provider will discuss your options for a diagnostic test to confirm the diagnosis.
Diagnostic tests. If a screening test indicates a possible problem — or your age, family history or medical history puts you at increased risk of having a baby with a genetic problem — you might consider an invasive prenatal diagnostic test. A diagnostic test is the only way to be sure of a diagnosis. Some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a slight risk of miscarriage.

Types of screening tests

Prenatal screening tests include:

First trimester screening tests. During your first trimester, your health care provider will offer a blood test and an ultrasound to measure the size of the clear space in the tissue at the back of a baby's neck (nuchal translucency). In Down syndrome and in certain other conditions, the nuchal translucency measurement is larger than usual.
Second trimester screening tests. During your second trimester, your health care provider will offer another blood test called the quad screen. This test measures levels of four substances in your blood. Results indicate your risk of carrying a baby who has certain chromosomal conditions, such as Down syndrome. The test can also help detect neural tube defects — serious abnormalities of the brain or spinal cord.
Prenatal cell-free DNA screening. This blood test examines fetal DNA in the maternal bloodstream to screen for the increased chance for specific chromosome problems, such as Down syndrome. This screening can also provide information about a baby's sex and Rh blood type.

Questions to consider

Prenatal screening tests for fetal abnormalities are optional. It's important to make an informed decision about prenatal testing, especially if you're screening for fetal conditions that can't be treated. Before going forward, consider these questions:

What will you do with the test results? Test results within the standard range can ease your anxiety. However, if prenatal testing indicates that your baby might have a birth defect, you could be faced with wrenching decisions — such as whether to continue the pregnancy. On the other hand, you might welcome the opportunity to plan for your baby's care in advance.
Will the information shape your prenatal care? Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal testing alerts your health care provider to a condition that requires immediate treatment after birth.
How accurate are the results? Prenatal screening isn't perfect. The rate of inaccurate results, known as false-negative or false-positive results, varies from test to test.
What are the risks? Weigh the risks of specific prenatal tests — such as anxiety, pain or possible miscarriage — against the value of knowing the results.

The decision to pursue prenatal testing is up to you. If you're concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for help choosing a test and understanding the results.

Taking the time to evaluate your options will help you make the best decision for you and your baby.

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Aug. 26, 2022

American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 693: Counseling about genetic testing and communication of genetic test results. Obstetrics & Gynecology. 2017;129:96.
American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins — Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. ACOG Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstetrics & Gynecology. 2016;127:108.
American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins — Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. ACOG Practice Bulletin No. 163: Screening for fetal aneuploidy. Obstetrics & Gynecology. 2016;127:979.
Frequently asked questions. Pregnancy FAQ165. Prenatal genetic screening tests. American College of Obstetricians and Gynecologists. https://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests. Accessed Aug. 20, 2018.

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