Carrier screening for survival motor neuron variants in 7709 pregnant women from Foshan, Guangdong Province

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2025-05-22 DOI:10.1016/j.cca.2025.120379

Xiao-wen Yuan , Guang-rong Feng , Zhan-tao Lu , Xin Zhang

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引用次数: 0

Abstract

Purpose

Spinal muscular atrophy (SMA), a severe autosomal-recessive disorder, is primarily caused by homozygous deletions of exon 7 survival motor neuron 1 (SMN1) gene. However, data on SMN1 variant carrier rates in the Foshan area of Guangdong Province are limited. This retrospective study aimed to determine SMN1 carrier rate among pregnant women in Foshan, evaluate screening uptake, and analyse regional variations to optimize genetic counselling strategies and public health interventions.

Methodology

Multiplex real-time quantitative polymerase chain reaction was used to determine the SMN1 variant in pregnant women from February 2023 to March 2025 in the Foshan area. If pregnant women screened positive, carrier testing was recommended for their husbands. Prenatal diagnoses were performed for high-risk couples.

Results

Among the 7709 pregnant women who underwent SMN1 variant carrier screening, 104 SMN1 variant carriers were identified, yielding a carrier rate of 1.35 %. Spousal testing (82.7 % compliance) revealed one high-risk couple, with prenatal diagnosis confirming a heterozygous deletion in the foetus. The carrier rate of Foshan was lower than that in Shenzhen and Maoming but higher than that in Hispanic populations.

Conclusions

Our study revealed a 1.35 % SMN1 carrier rate among Foshan pregnant women, supporting genetic counselling and prenatal diagnosis implementation. Systematic screening facilitates early detection of at-risk couples, enabling prenatal interventions to reduce SMA births.

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广东省佛山市7709例孕妇存活运动神经元变异携带者筛查

脊髓性肌萎缩症（SMA）是一种严重的常染色体隐性遗传病，主要由存活运动神经元1 （SMN1）基因7外显子纯合缺失引起。然而，广东省佛山地区SMN1变异携带率的数据有限。本回顾性研究旨在确定佛山市孕妇SMN1携带率，评估筛查情况，并分析地区差异，以优化遗传咨询策略和公共卫生干预措施。方法采用多重实时定量聚合酶链反应对2023年2月~ 2025年3月佛山地区孕妇进行SMN1变异检测。如果孕妇筛查呈阳性，建议对其丈夫进行携带者检测。对高危夫妇进行产前诊断。结果在7709例接受SMN1变异携带者筛查的孕妇中，鉴定出104例SMN1变异携带者，携带率为1.35%。配偶检测（82.7%的依从性）显示一对高危夫妇，产前诊断证实胎儿杂合缺失。佛山的带菌率低于深圳和茂名，但高于西班牙裔人群。结论本研究结果显示佛山市孕妇SMN1携带率为1.35%，为开展遗传咨询和产前诊断提供了依据。系统筛查有助于早期发现有风险的夫妇，使产前干预能够减少SMA分娩。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.