Pregnancy & Genetic Testing: Do I Need It?

Genetic testing is available to anyone, particularly those considering pregnancy or already pregnant, who have questions about how genetic or inherited conditions in their family might impact their pregnancy. The process involves gathering medical and family history to guide individuals on appropriate genetic tests and provide answers for their health and their baby's health.

No single genetic test can tell everything; often, a combination of tests is used. Some tests can indicate a couple's higher chance of having a child with a specific genetic condition even before pregnancy. Other tests are performed during an ongoing pregnancy to determine if the fetus has a genetic condition. The stage of pregnancy or planning determines which tests are available.

Genetic testing can be done either before or during pregnancy, depending on when a couple wishes to gather information. Pre-pregnancy testing allows couples to make informed decisions about attempting pregnancy and what monitoring might be necessary. For those already pregnant, tests focus on answering questions about the current pregnancy and potential conditions.

Genetic testing can be performed at an OBGYN office or a Maternal Fetal Medicine office. Some tests, like Chorionic Villus Sampling (CVS) in the first trimester or amniocentesis after 15 weeks, require a procedural sample from the pregnancy and are typically performed by Maternal Fetal Medicine specialists. Other tests only require a blood sample from the mother and can be done through an OBGYN, though many prefer to refer to Maternal Fetal Medicine for genetic counseling and testing.

The time to receive test results varies, from a week to several weeks. Once results are available, the next step involves speaking with an OBGYN or genetic counselor to understand what normal or abnormal results mean. The genetic counselor can explain the impact on healthcare and guide individuals on any additional testing or evaluation needed for their pregnancy.

A crucial step before a genetic counseling consult is to know significant family medical history. Gather information about family members who have hereditary conditions, birth defects, or other conditions requiring special medical care. This information is vital for the genetic counselor to combine with the patient's medical history to determine the most informative genetic tests.