Carrier Screening - Prenatal Genetics

Carrier screening for recessive conditions and X-linked conditions, including cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, is available to anyone pregnant or planning to become pregnant. Carrier screening for a number of additional recessive conditions is available as well, all with varying detection rates and carrier frequencies, including those recommended by the American College of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG). 

Expanded carrier screening targets inherited conditions with significant health implications and early onset. While most carriers will not have associated findings, carriers of some conditions have been associated with related features. There is a wide range of conditions that can be included with expanded carrier screening and various panel options, with panels available that include up to approximately 550 conditions. 

A negative test significantly reduces risk to be a carrier but does not eliminate it. If a patient is a carrier for any of the screened conditions, we are able to arrange carrier screening for their partner. Couples in which both partners are carriers typically have a 25% risk for an affected pregnancy. Prenatal diagnosis through CVS or amniocentesis is available for pregnancies of known carriers. Carrier couples could also consider preimplantation genetic diagnosis with IVF for future pregnancies. 

Genetic counseling is available to discuss the option of carrier screening and implications of results.