Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations
Journal
Journal of genetics and genomics = Yi chuan xue bao
Journal Volume
48
Journal Issue
12
Pages
1104
Date Issued
2021-12
Author(s)
Guo, Qiwei
Chang, Yih-Yuan
Huang, Chien-Hao
Hsiao, Yu-Shan
Hsiao, Yu-Chiao
Chiu, I-Fan
Zhou, Yulin
Zhang, Haixia
Abstract
Identification of carriers of fragile X syndrome (FXS) with the subsequent prenatal diagnosis and knowledge of FXS-associated genetic profiles are essential for intervention in specific populations. We report the results of carrier screening of 39,458 East Asian adult women and prenatal diagnosis from 87 FXS carriers. The prevalence of FXS carriers and full mutation fetuses was estimated to be 1/581 and 1/3124 in East Asian populations, respectively. We confirmed the validity of the current threshold of CGG trinucleotide repeats for FMR1 categorization; the integral risks of full mutation expansion were approximately 6.0%, 43.8%, and 100% for premutation alleles with 55-74, 75-89, and ≥ 90 CGG repeats, respectively. The protective effect of AGG (adenine-guanine-guanine nucleotides) interruption in East Asian populations was validated, which is important in protecting premutation alleles with 75-89 CGG repeats from full mutation expansion. Finally, family history was shown not an effective indicator for FXS carrier screening in East Asian populations, and population-based screening was more cost-effective. This study provides an insight into the largest carrier screening and prenatal diagnosis for FXS in East Asian populations to date. The FXS-associated genetic profiles of East Asian populations are delineated, and population-based carrier screening is shown to be promising for FXS intervention.
Subjects
AGG interruption; Cost-effectiveness analysis; East Asian population; Fragile X syndrome; Population-based carrier screening; Prenatal diagnosis
SDGs
Publisher
SCIENCE PRESS
Type
journal article