Prenatal genetic testing serves many purposes. Carrier screening can give couples planning a family a better idea of their risk of passing down certain inherited genetic conditions such as cystic fibrosis or spinal muscular atrophy. In some cases, genetic testing can help pinpoint the cause of repeated miscarriages that could help guide future options for conceiving such as in vitro fertilization (IVF) combined with preimplantation genetic screening. For those already pregnant, prenatal testing can identify the possibility of having a baby with a genetic disorder.
Recent advances in DNA-based technology such as cell-free fetal DNA screening and chromosomal microarray testing have greatly expanded our ability to efficiently screen and test for many more common prenatal conditions.
Prenatal genetic counseling is available through NorthShore’s Maternity Services located in Evanston Hospital. The Center for Medical Genetics focuses on adult genetic disorders and offers an adult clinical service that is the busiest and largest in the nation. We routinely refer patients who are pregnant or interested in preconception planning to our experienced prenatal genetics colleagues who work closely with our Centers for Maternal and Fetal Health experts. Additionally, if we identify risk factors in our adult patients that could affect a future pregnancy, we encourage preconception genetic counseling once they are ready to start a family.
NorthShore offers both prenatal and preconception counseling and genetic testing. Trained counselors discuss screening options, test results and prognosis as well as provide emotional support and assist in decision making.
Prenatal screening options available at NorthShore include:
- Down syndrome screening by first trimester screen (BUN) or cell-free fetal DNA testing (NIPS)
- Genetic diagnosis by amniocentesis or chorionic villus sampling
- Carrier screening for ethnicity-based disorders such as Tay-Sachs or sickle-cell anemia
For more information about perinatal genetic counseling, call the Prenatal Genetic Counseling office at Evanston Hospital at 847.570.2864.