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Carrier Screening for Genetic Conditions

Obstet Gynecol; ePub 2017 Mar; ACOG Comm on Genetics

The American College of Obstetricians and Gynecologists’ Committee on Genetics has issued a committee opinion on carrier screening for genetic conditions. 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 1 variant allele within a gene(s) associated with a diagnosis. Among the general recommendations and conclusions:

  • Information about genetic carrier screening should be provided to every pregnant woman. After counseling, a patient may decline any or all screening.
  • Carrier screening and counseling ideally should be performed before pregnancy.
  • If an individual is found to be a carrier for a specific condition, the individual’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. Prenatal diagnosis and advanced reproductive technologies to decrease the risk of an affected offspring should be discussed.
  • When an individual is found to be a carrier for a genetic condition, the individual’s relatives are at risk of carrying the same mutation.
  • It is important to obtain the family history of the patient and, if possible, her partner as a screening tool for inherited risk.
  • Carrier screening for a particular condition generally should be performed only once in a person’s lifetime.
  • Prenatal carrier screening does not replace newborn screening, nor does newborn screening replace the potential value of prenatal carrier screening.

Citation:

Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2017;129:e41–55.