Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

ABSTRACT:

Background

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception.

Methods

Pregnant women to be offered amniotic fluid testing were recruited for the free voluntary carrier screening at a single center between August, 2017 and September, 2019. The number of CGG repeats in the 5' un-translated region of the fragile X mental retardation gene 1 (FMR1) was determined.

Results

4286 of 7000 (61.2%) pregnant women volunteered for the screening. Forty (0.93%), five (0.11%), and three (0.07%) carr

SUBMITTER: Xi H 

PROVIDER: S-EPMC8372084 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature