What is the most common genetic test done during pregnancy?

The most common genetic test is non-invasive prenatal testing (NIPT), also called cell-free DNA screening. It screens for trisomy 21, 18, and 13 and is done with a simple blood draw after 10 weeks.

Is NIPT covered by insurance in the US?

Many US insurance plans cover NIPT for pregnancies with certain risk factors (e.g., maternal age 35+, abnormal ultrasound). Coverage varies, so check with your provider. Self-pay options are often available for around a few hundred dollars.

Can carrier screening be done at the same time as NIPT?

Yes, many providers offer a combined panel that includes both NIPT and carrier screening from a single blood draw. This is efficient and gives a broader picture of potential genetic risks.

What is the most common genetic test done during pregnancy?

The most common genetic test is non-invasive prenatal testing (NIPT), also called cell-free DNA screening. It screens for trisomy 21, 18, and 13 and is done with a simple blood draw after 10 weeks.

Is NIPT covered by insurance in the US?

Many US insurance plans cover NIPT for pregnancies with certain risk factors (e.g., maternal age 35+, abnormal ultrasound). Coverage varies, so check with your provider. Self-pay options are often available for around a few hundred dollars.

Can carrier screening be done at the same time as NIPT?

Yes, many providers offer a combined panel that includes both NIPT and carrier screening from a single blood draw. This is efficient and gives a broader picture of potential genetic risks.

What Genetic Tests Are Done During Pregnancy?

Learn which genetic tests are done during pregnancy in 2026, including NIPT, carrier screening, and more. Understand your options for a healthy US pregnancy.

Genetic tests done during pregnancy help assess the risk of certain inherited conditions and chromosomal abnormalities in a developing baby. In 2026, standard options include non-invasive prenatal testing (NIPT), carrier screening, first-trimester screening, integrated screening, and diagnostic procedures like chorionic villus sampling or amniocentesis. For US families, understanding these tests allows informed decisions about prenatal care and follow-up steps.

Non-Invasive Prenatal Testing (NIPT) – Cell-Free DNA Screening

NIPT, also called non-invasive prenatal testing or cell-free DNA screening, analyzes small fragments of fetal DNA circulating in the mother’s blood. It is typically performed after 10 weeks of pregnancy. NIPT screens for common chromosomal conditions such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. It can also reveal the baby’s sex and, in some panels, screen for certain microdeletions. The test is highly accurate but remains a screening tool—not a diagnosis. A key metric is the fetal fraction, which must be above a certain threshold for reliable results.

Who Should Consider NIPT?

Pregnant individuals of any age who want early risk information
Those with a higher baseline risk (e.g., maternal age 35 or older)
Individuals with a previous pregnancy affected by a chromosomal condition
Anyone who prefers a blood-based test with no risk to the pregnancy

Carrier Screening

Carrier screening is a blood or saliva test that checks whether a parent carries a gene for certain recessive disorders, such as cystic fibrosis, spinal muscular atrophy, or fragile X syndrome. This test can be done before or during pregnancy. If both partners are carriers for the same condition, there is a 25% chance the baby will be affected. Results guide decisions about further testing, such as chorionic villus sampling or amniocentesis.

First-Trimester Screening and Integrated Screening

First-trimester screening combines a blood draw (measuring pregnancy-associated plasma protein A and human chorionic gonadotropin) with a nuchal translucency ultrasound (measuring fluid at the back of the baby’s neck). It is performed between 11 and 13 weeks. Integrated screening combines first-trimester results with a second-trimester quad screen (testing alpha-fetoprotein, estriol, hCG, and inhibin A) for a more comprehensive risk assessment. These tests screen for Down syndrome, trisomy 18, and neural tube defects.

Common Prenatal Genetic Screening Tests at a Glance
Test Type	Timing	What It Screens For
NIPT (cell-free DNA)	From 10 weeks	Trisomy 21, 18, 13; sex chromosomes; some microdeletions
Carrier Screening	Any time (preferably before pregnancy)	Recessive conditions (e.g., CF, SMA, fragile X)
First-Trimester Screening	11–13 weeks	Down syndrome, trisomy 18
Quad Screen	15–20 weeks	Down syndrome, trisomy 18, neural tube defects
Integrated Screening	First + second trimester	Combined risk for chromosome issues and NTDs

Diagnostic Tests: Chorionic Villus Sampling and Amniocentesis

If a screening test indicates increased risk, a genetic counselor may recommend a diagnostic test. Chorionic villus sampling (CVS) is performed at 10–13 weeks and analyzes placental tissue. Amniocentesis is done at 15–20 weeks and examines amniotic fluid. Both can confirm whether the baby has a chromosomal condition or certain genetic disorders. These tests carry a small risk of miscarriage, so they are reserved for cases where screening results warrant confirmation.

Why a Genetic Counselor Matters

A genetic counselor helps interpret screening results, explains the difference between screening and diagnosis, and guides decisions about follow-up options. They also discuss the possibility of a prenatal paternity test, which can be done via NIPT or CVS, if relevant.

Putting It All Together

Most US pregnancies today start with NIPT or first-trimester screening, followed by carrier screening if not done preconception. Based on results, a genetic counselor may suggest integrated screening or a diagnostic procedure. The goal is to give every family the information they need to make confident choices.

To simplify your journey, you can order a prenatal screening panel online that includes NIPT and carrier screening in one convenient kit. Results are typically available within 5–7 business days, giving you early peace of mind.