Q: Why get genetic testing before we even know if we have a baby? What if there are problems?
A: A genetic carrier screening test can be done before or during pregnancy to identify if you carry a gene mutation (change) that could mean you’re at risk to have a child with a genetic disease.
While genetic diseases in children are rare, they are often debilitating or fatal. Knowing your risk prior to pregnancy may provide the opportunity, if needed, to prepare and make important decisions in planning your family at a time when the greatest number of options exists.
If you are identified as a carrier, then the next step would most likely be to test your partner, since many of the diseases screened only result in a childhood condition when both parents are carriers. If both you and your partner are found to be carriers for the same disorder, your physician as well as a certified genetic counselor can discuss your personal risks and options.
Randi Zinberg, MS, CGC is Director, Graduate Program in Genetic Counseling, and an Assistant Professor of Genetics and Genomic Sciences and Obstetrics, Gynecology and Reproductive Science at Mount Sinai School of Medicine in New York City. Manisha Balwani, MD, MS is Assistant Professor of Medicine and Genetics and Genomic Sciences.
Both authors serve on the Medical Advisory Board for the Genetic Disease Foundation, which raises money to support research, prevention and treatment of genetic diseases.