The American College of Obstetricians and Gynecologists (ACOG) is recommending that all women, regardless of ethnic background, be offered genetic carrier screening prior to pregnancy. In a new Committee Opinion, ACOG states “Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options.”
Genetic carrier screening is testing that is performed on a person who does not overtly have a genetic disorder, but may carry a genetic mutation in their DNA that could cause the disease in a child. Traditionally, pre-pregnancy genetic carrier screening was recommended to specific populations, who were at increased risk of certain disorders, such as screening for Tay Sachs Disease in patients of Ashkenazi Jewish descent. Today, many of us are of mixed ethnicity and we may not even be aware of what our true mix is, as you can see in the Ancestry commercials on television for ethnicity testing. This makes identification of “high risk” populations more difficult.
Screening for other common genetic conditions, such as Cystic Fibrosis and Spinal Muscular Atrophy, have traditionally not performed until a patient was already pregnant unless they were considered to be at “high risk” for the disease. Delaying screening until pregnancy though does not allow couples to consider all of their reproductive options.
If a couple knows prior to pregnancy that they carry a genetic mutation that could lead to a significant disease in their child, they have the opportunity to learn about their risk and the disease prior to pregnancy. They also have the opportunity to discuss their reproductive options with their physician. These options include testing for the disease when already pregnant or testing embryos prior to pregnancy via IVF with preimplantation genetic diagnosis (PGD). IVF with PGD allows couples to test embryos for genetic diseases prior to becoming pregnant and to select only healthy embryos for implantation.
At Reproductive Partners, we have been offering genetic carrier screening to all of our patients for many years and we have helped numerous couples achieve healthy pregnancies with PGD. We agree with ACOG’s new recommendation for genetic screening and urge women who are considering pregnancy in the future to reach out to their physicians to discuss screening options.