Prenatal Genetic Testing

Whether to pursue genetic testing – and what to do with the results – can be challenging decisions to make during pregnancy. Talk with your OB provider about testing so you can feel informed and supported.

Tests and Services Offered

Our services include:

  • Genetic counseling before, during and after testing
  • First-trimester screening, including nuchal translucency ultrasound
  • Non-invasive prenatal screening (NIPS/NIPT), aka cell free DNA screening
  • Carrier screening for inherited conditions
  • Diagnostic testing, including amniocentesis and chorionic villus sampling (CVS)
  • Targeted testing based on your family history or ultrasound findings

Your Genetic Testing Options

Our perinatal genetic counselors work closely with your obstetrician, midwife and maternal-fetal medicine team to coordinate your care and make sure you understand your results before you make any decisions.

Chromosome screening tests estimate the probability that a chromosome condition is present. They do not confirm a diagnosis. All pregnant patients are offered first-trimester screening for conditions such as Down syndrome, Trisomy 18 and Trisomy 13. The screening may include a nuchal translucency (NT) ultrasound, a blood draw or both. The most common blood test today is non-invasive prenatal screening (NIPT), which analyzes small fragments of placental DNA in a mother’s blood and can be done any time after 10 weeks.

Unlike screening tests, which estimate risk, diagnostic tests can confirm or rule out a chromosome or genetic condition with certainty. If you opt to pursue a diagnostic test, a sample is collected through one of two procedures: chorionic villus sampling (CVS), performed between 11 and 14 weeks, or amniocentesis, performed after 16 weeks. Both are done under ultrasound guidance and carry a small risk of pregnancy loss, which your counselor will discuss with you beforehand. The sample is then analyzed in a lab to look for extra or missing chromosomes, or smaller changes in DNA that a standard chromosome test might miss.

Carrier screening is a blood test that checks whether you or your partner carry genetic conditions such as cystic fibrosis, spinal muscular atrophy or sickle cell disease. Most carriers are healthy and have no family history of these conditions. If both partners are carriers for the same condition, there is a one-in-four chance with each pregnancy that a child could be affected. Carrier screening is available prior to or during pregnancy, and counseling is available for both partners throughout the process.

Every testing decision is yours to make – including the decision not to test. Our perinatal genetic counselors explain what each test does and doesn't determine, help you interpret your results and support you through whatever comes next. Before testing, they will walk you through your options and what each one means for your pregnancy. When results are available, they will help you understand your findings and what follow-up care, if any, is recommended. Counseling is available for individuals and couples.

Find Care That's Close to You

Additional Resources

Genetic testing is one part of a larger care picture. These resources are here when you need them.

Pregnant woman receiving an ultrasound
Maternal-Fetal Medicine Care

Expert co-management for high-risk pregnancies alongside your OB or midwife.
Ultrasound exam being performed in clinic
Pregnancy Care

Personalized prenatal care from your first visit through delivery.
Newborn baby receiving medical care
NICU Care

High-level NICU care for newborns who need specialized support after delivery.

Frequently Asked Questions

Coverage varies by plan and test. Out-of-pocket costs can be high for some tests, so it's worth checking with your insurance and the laboratory before you decide to proceed. Our team can help you navigate those conversations.

Turnaround time depends on the test. NIPT results are typically available within one to two weeks. Carrier screening typically takes 2–3 weeks. Diagnostic test results – including amniocentesis and CVS – may take one to four weeks, depending on what type of analysis is requested. Your perinatal genetic counselor will give you a specific timeline before your test and will contact you directly when results are ready, so you're not left waiting and wondering.

Genetic counseling is provided by certified genetic counselors who specialize in genetic conditions during pregnancy. They work closely with your OB, midwife and maternal-fetal medicine team and are involved at every point – before testing, when results arrive and throughout any follow-up care. Appointments are available for individuals and couples.

An abnormal screening result is not a diagnosis – it means the probability of a condition is higher than average, and that more information may be helpful. Your perinatal genetic counselor will contact you directly to explain what the result means, walk you through what additional testing options are available and make sure you understand what each option would and wouldn't tell you. No decisions need to be made immediately. Our team is here to support you through whatever comes next.

Yes, and many patients do exactly that. Genetic counseling is available to anyone who wants to understand their options, think through their personal risk factors or simply have a conversation before deciding whether testing makes sense for them.

You are not obligated to pursue any testing after a counseling appointment. Some patients decide to test after counseling, others decide not to. Our counselors are here to give you the information you need to make the decision that's right for your family.