Expanded carrier screening for recessive genetic disorders: a review Abstract

Olivia Yiu-Man CHAN
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong
Tze-Kin LAU
Fetal Medicine Centre, Paramount Medical Centre, Hong Kong
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.
Hong Kong J Gynaecol Obstet Midwifery 2020; 20(1):48–52
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