Preconception carrier screening is a genetic test conducted before pregnancy
Preconception carrier screening is a blood test that our Grapevine and Alliance obgyns can conduct before a woman gets pregnant. The test requires a blood or saliva sample that is sent to a reference lab for testing. The test determines if one or both partners are a carrier of a genetic disorder.
Carriers are people who have either no symptoms or only mild symptoms of a genetic disorder, but they carry the gene for the disorder. The only way to determine if one or both partners are a carrier prior to pregnancy is preconception carrier screening.
Reasons to consider preconception carrier screening
Anyone may choose to undergo preconception carrier screening, but our Grapevine and Alliance obgyns think it is particularly important for certain people to have the test to decrease their risk of passing on a genetic disorder.
- Women or men who have a genetic disorder
- People who have a family history of any genetic disorders
- Those who have already given birth to a child with a genetic disorder
In addition, women or men who belong to certain ethnic groups have a higher risk of developing specific genetic disorders and should give serious consideration to preconception carrier screening.
- Those of Eastern European Jewish descent, also known as Ashkenazi Jews, are at higher risk for several disorders, including Tay-Sachs, familial dysautonomia, Canavan disease and cystic fibrosis.
- Non-Hispanic white people have an increased risk for cystic fibrosis.
- Southeast Asian, African and Mediterranean descent puts people at higher risk for sickle cell disease and thalassemias.
What the test results tell us
Preconception carrier screening test results tell us if one or both partners is a carrier for an autosomal recessive genetic disorder. If one partner is a carrier, then his or her offspring will not inherit the disorder, but there is a 50% chance that the child will be an asymptomatic carrier. If both partners carry the gene, then their child has a 25% chance of receiving the gene from both parents and inheriting the genetic disorder. The child also has a 50% chance of being a carrier.
If one partner’s preconception carrier screening result is positive, our Grapevine and Alliance obgyns will urge the other partner to be tested, too, since both partners have to be carriers to pass on the genetic disorder to their offspring. If one or both partners test positive, we urge them to seek genetic counseling to discuss their options for pregnancy.
Preconception carrier screening is just one of the preconception and obstetrics services we offer. We’re conveniently located in nearby Grapevine for anyone looking for a Southlake obgyn. Both our Grapevine and Alliance obgyn offices are conveniently located for Metroplex residents. Contact us today for an appointment.