Carrier Screening for Genetic Conditions

Committee Opinion Number 691, March 2017

(Replaces Committee Opinion Number 318, October 2005;
Committee Opinion Number 432, May 2009;
Committee Opinion Number 442, October 2009;
Committee Opinion Number 469, October 2010;
Committee Opinion Number 486, April 2011)
(Reaffirmed 2019)

ABSTRACT: 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 ...