Expert Advice: Genetic Testing for Fertility & Pregnancy

While I’m not a mom yet myself (give me a ring and like 5 more years!), I do have the words “pregnancy”, “babies”, and “fertility” at the top of mind just about every day. In Hoboken, you’ll most often find me teaching barre and HIIT classes at Work it Out, but from 9-5, I’m out in Livingston, NJ working as a marketing manager for the reproductive genetic testing company, CooperGenomics. CooperGenomics offers a variety of different genetic tests for every stage of the family planning process, partnering with physicians (mostly fertility specialists & OB/GYNs) to bring these tests to the community. Genetic testing may have been part of the conversation you had with your doctor before getting pregnant or while pregnant, but there’s so many tests available that it can be tough to know what is right for you. Here’s a breakdown of the most common genetic test types before and during pregnancy:

Carrier Screening

Carrier screening looks at your DNA and the DNA of your partner to assess your risk of having a child with a genetic disease. You can have a carrier screen for just a single condition, like cystic fibrosis, or you can have an “expanded” carrier screen which looks at your risk for many conditions (some can test for >300) at once.

Who: For women & men planning a family

When: Before pregnancy or early in pregnancy

How: Carrier screening can be done with just a blood or saliva sample. Some doctors test both partners at the same time, but others test only the woman first and decide whether or not to test the man based on the woman’s results.

Why: It is possible to have a child with a genetic disease, even if you have no personal or family history of this condition. Diseases like this are called “recessive”, and carrier screening is one way to find out if you might be at risk. If you are found to be at increased risk, there are options to help you still to have a healthy baby, such as PGD (scroll down for more on this one!).

Noninvasive Prenatal Screening (NIPS)

While not the best acronym they could have chosen, NIPS is a popular prenatal test that gives information about the health of a pregnancy, including the risk for Down syndrome.

Who: For pregnant women

When: NIPS can be performed as early as week 9 or 10 of pregnancy, depending on the specific test.

How: During pregnancy, pieces of the baby’s DNA float throughout mom’s blood. NIPS uses just a small sample of mom’s blood to screen the baby’s DNA for common abnormalities.

Why: Testing for Down syndrome and other chromosome abnormalities used to require an amniocentesis or CVS (chorionic villus sampling) procedure, which carry a risk of miscarriage. Now, NIPS can screen for these conditions much more safely. A bonus is that NIPS can determine the baby’s sex much earlier than an ultrasound can. (We actually have patients call us asking if we can send the results right to their baker to make a blue or pink cake for a gender reveal party!)

Preimplantation Genetic Screening & Diagnosis (PGS & PGD)

PGS & PGD are both genetic tests performed on IVF embryos, and it’s really easy to get these two confused. PGD is designed to avoid passing on a specific genetic condition, so it is only for those who know they are at high risk of having a child with a genetic disease. PGS is designed to help increase the chance of IVF success, and may be appropriate for anyone undergoing IVF, so that’s the one I’ve chosen to focus on here.

Who: For those undergoing IVF. Some doctors may only recommend PGS to those with previous failed IVF cycles or those over 35 years old, but others offer this testing to all of their patients.

When: PGS is performed after the egg retrieval and fertilization but before an embryo is transferred back into the womb.

How: After the eggs are fertilized, they’ll develop for about 5 days, and then embryologist will remove a small cell sample from the growing embryos. This sample will be sent to the laboratory for testing, identifying whether each embryo has the expected number of chromosomes.

Why: Embryos with the expected number of chromosomes have a much better chance of leading to a successful pregnancy and a healthy live birth than embryos with missing or extra chromosomes. PGS can give your IVF care team information to help them select the best embryo for transfer. PGS and PGD are the tests that I always nerd out over… a lot of people who I talk to about these have no idea that they even exist! I actually first learned about PGD from a page in my high school genetics textbook, which is what inspired me to go into the field, and I’m still in awe of what science is able to do today. Not every test is right for every person, but it never hurts to know what’s available to you and empower yourself with the knowledge to make an informed decision for you and your future little one.


Stephanie Sehnert is a marketing manager at CooperGenomics and a fitness instructor at Work It Out. She has a passion for helping people grow their families and is always captivated hearing stories of fertility struggles and successes. You can follow Stephanie on Instagram @stephsehnert and learn more about genetic testing for fertility and pregnancy here.