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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.


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