Prenatal genetic counseling is a consultation service that evaluates the chances of having a genetic condition in the child of individuals who are pregnant or thinking about becoming pregnant. We discuss options for genetic screening and testing before and during pregnancy and the benefits and limitations of these tests. Testing is then coordinated and interpreted by your genetic counselor. We also review family history, focusing on concerns like intellectual disability, birth defects, and genetic conditions.

All pregnant UConn Health OB patients are referred to prenatal genetic counseling. In a typical session, we will review your family history and options for chromosome screening, such as cell-free DNA testing and carrier screening. This session typically occurs in the timeframe of 10-12 weeks of pregnancy. Genetic testing is always your choice, and if you choose to do it, you can typically have your blood drawn on the same day as your genetic counseling appointment. You will speak with the genetic counselor and proceed to the lab for a blood draw.

We also welcome referrals and inquiries from outside physicians. Some reasons for referral may be high-risk prenatal screening, abnormalities seen on ultrasound, individuals considering diagnostic prenatal tests like CVS or amniocentesis, or family history concerns. We are happy to see patients before pregnancy or during pregnancy.

We can also counsel couples wishing to discuss preimplantation genetic testing (PGT) options or those considering transferring a mosaic embryo in IVF.

Some of the genetic testing that we routinely discuss or coordinate includes:

• Cell-free DNA testing. Cell-free DNA testing, or non-invasive prenatal testing, tests for chromosome conditions such as Down syndrome and are done during pregnancy.
• Carrier testing. This testing is done before or during pregnancy to see if someone is a carrier for certain genetic conditions, such as cystic fibrosis or sickle cell disease.
• This testing is done through diagnostic prenatal testing such as amniocentesis or CVS, often when there is a concern for a chromosome condition in pregnancy through a screening test or ultrasound.

We can also coordinate other types of genetic testing based on family history, patient concerns, or ultrasound findings.