In more general terms, the ACOG guidelines state:

  • Information about genetic carrier screening should ideally be offered and performed during the preconception period. Regardless, information should be provided to every pregnant woman.
  • An individual may decline any or all screening.
  • If time constraints exist regarding prenatal diagnostic testing, both the patient and her partner should be concurrently screened. Otherwise, if an individual is found to be a carrier for a condition, her or his partner should be offered screening.
  • If the couple is determined to be a ‘carrier couple’, they should be offered genetic counseling to review all reproductive options.
  • Prenatal carrier screening does not replace newborn screening.
  • Family history, including ethnic background, for both the woman and her partner is important to determine the most appropriate testing.
  • As relatives are at-risk to carry the same condition of an identified individual, they should be encouraged to share this information.
  • Carrier screening should only occur once in a person’s lifetime and be documented in an individual’s chart. A re-screen should be undertaken only with the guidance of a genetics professional.
  • A patient may request and obtain genetic carrier screening for any particular condition with the appropriate risks, benefits, and limitations of screening reviewed.

Related Links:

Committee Opinion No. 693: Counseling About Genetic Testing and Communication of Genetic Test Results.

Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine

ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy.