When should carrier screening for genetic conditions be performed?
February 12, 2020Articles
Carrier screening for genetic conditions and counseling ideally should be performed before pregnancy.
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. 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. A patient may decline any or all screening. When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation.
All reproductive patients should be encouraged to inform his or her relatives of the risk and the availability of carrier screening. If an individual is found to be a carrier for a specific condition, the patient’s reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population.
At a minimum, screening for the following conditions should be offered to all women who are considering pregnancy or are currently pregnant. A blood sample is taken to test for the conditions.
Spinal Muscular Atrophy
Fragile X Syndrome
This information is one piece of the data to help personalize your path to successfully conceive and carry. We ask all new patients about Genetic Carrier Screening. If you have had it previously we would like to obtain the medical records.
If you decline the testing, you will be asked to sign a Waiver declining the test. But remember, our goal is to eliminate any potential health factors that may be a cause of recurrent miscarriage or a diagnosis of unexplained infertility. My recommendation is always to get tested.
I hope this information is helpful to you in deciding to proceed with Carrier Screening