Expanded carrier screening for recessive genetic disorders: a review

Olivia Yiu-Man CHAN; Tze-Kin LAU

doi:10.12809/hkjgom.20.1.08

Authors

Olivia Yiu-Man CHAN
Tze-Kin LAU

DOI:

https://doi.org/10.12809/hkjgom.20.1.08

Keywords:

Genetic carrier screening, Genetic counseling, Genetic diseases, X-linked

Abstract

The American College of Obstetricians and Gynecologists recommends carrier screening for couples planning for pregnancy or in early pregnancy. Expanded carrier screening is cost-effective to identify the carrier status of multiple debilitating recessive disorders. Knowledge of the reproductive risk enables carrier couples to decide the best reproductive options for their family. Nonetheless, proper pre-test and post-test genetic counselling is necessary to explain the limitation of testing methodologies and potential phenotypic variabilities.

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