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European Journal of Medical Research
Published in: European Journal of Medical Research 1/2023

Open Access 01-12-2023 | Spinal Muscular Atrophy | Research

Clinical application value of expanded carrier screening in the population of childbearing age

Authors: Yuqin Fang, Jingran Li, Miaomiao Zhang, Yuan Cheng, Chaohong Wang, Jiansheng Zhu

Published in: European Journal of Medical Research | Issue 1/2023

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Abstract

Objective

The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age.

Materials and methods

Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed.

Results

In 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected.

Conclusions

It has certain clinical application value to implement ECS in the population of childbearing age in China.
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Metadata
Title
Clinical application value of expanded carrier screening in the population of childbearing age
Authors
Yuqin Fang
Jingran Li
Miaomiao Zhang
Yuan Cheng
Chaohong Wang
Jiansheng Zhu
Publication date
01-12-2023
Publisher
BioMed Central
Published in
European Journal of Medical Research / Issue 1/2023
Electronic ISSN: 2047-783X
DOI
https://doi.org/10.1186/s40001-023-01112-8

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