Genetic Carrier Screening

DNA testing technology has made huge advances in recent years. We can now test for many conditions and for less cost than ever thought possible. One set of conditions that we test for are recessive genetic traits, also called recessive mutations.

Recessive trait mutations are normally invisible, meaning that someone carrying one of these types of mutations feels normal and is not affected. The only way to know if you are carrying one of these recessive trait genetic conditions is to have a DNA blood test that looks for them.

Why is this important?

If both the mother and the father of an unborn baby test positive for the same recessive trait, there is a 1 in 4 chance that their child could be born with a genetic disease. This happens when the baby inherits the same recessive mutation from each parent. Some of the genetic diseases that are inherited in this manner include Cystic Fibrosis, Spinal Muscular Atrophy, Tay-Sachs disease and Sickle-Cell Anemia.

Many labs now offer a panel of DNA tests for many rare genetic conditions. For example, the HerediT® UNIVERSAL Carrier Screening test from Sequenom labs tests for over 250 genetic conditions. This panel includes the genetic tests recommended by the American College of Ob/Gyn (ACOG) and the genetic tests recommended for people with Ashkenazi Jewish ancestry. The Global Plus panel from Progenity labs tests for over 230 genetic conditions including all the ACOG and Ashkenazi ones (this panel is not on their web site yet but we offer it at Fair Oaks Women's Health). Counsyl Labs offers the Family Prep Screen that tests for over 100 of these recessive genetic conditions.

Statistics show that when we test for many rare conditions, there is a chance that a person will have at least one of these rare genetic mutations. In that case, we would test the partner (father of the baby) to make sure that he does not test positive for the same mutation. We can also test the patient and her partner (father of the baby) at the same time for a more complete genetic evaluation.

Please feel free to ask us any questions you may have about Genetic Carrier testing.