Carrier screening is recommended by the American College of Obstetricians and Gynecologists
Carrier screening is a genetic test that looks to see if an individual is a carrier for pathogenic, or disease causing, genetic variants. This type of test is valuable for couples who want to know their risks for having a child with specific genetic conditions. Carrier screening can look for recessive and autosomal dominant conditions.
Recessive conditions can remain “hidden” in families for generations
For a recessive condition to manifest, a child must inherit two pathogenic variants, one from each parent. Many of these conditions are incredibly debilitating, requiring lifelong care or causing death early in infancy or childhood. By testing to see if one or both parents carry hidden recessive variants, a couple can make proactive choices in family planning.
Dominant conditions manifest with only one pathogenic variant
Only one copy of a dominant allele is needed for a person to be affected by an autosomal dominant disorder. Hereditary breast and ovarian cancer syndrome is a type of dominant disorder that can be passed down from either parent and affects both male and female children.
Carrier screening is most powerful when done before pregnancy
One major benefit of carrier screening is that it provides couples with time to consider a full range of reproductive options. This test should only be considered after a thorough evaluation of the benefits and risks associated with carrier screening. Because there may be difficult choices to consider after receiving test results, we strongly recommend potential parents speak with a genetic counselor or genetic specialist before making any changes in reproductive plans.