[Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17 926 women of reproductive age in Chongqing].

This study provides a comprehensive assessment of the carrier frequency of SMA among women of childbearing age in Chongqing, offering valuable data for the primary and secondary prevention of SMA-related birth defects in the region.

Authors

Xiaomin Luo (ORCID: https://orcid.org/0000-0001-8072-1964)
Wenhong Chen (ORCID: https://orcid.org/0000-0003-0920-2517)
Xia Chen (ORCID: https://orcid.org/0000-0003-2619-1039)
Yang Gao (ORCID: https://orcid.org/0000-0002-9281-5965)
Keya Tong

Institutions

Chongqing Maternal and Child Health Hospital (CN)
Children's Hospital of Chongqing Medical University (CN)
Chongqing Medical University (CN)

Publication Details

Journal: PubMed
Published: 2025-02-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240808-00431
Primary Topic: Neurogenetic and Muscular Disorders Research
Type: article

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article

[Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17 926 women of reproductive age in Chongqing].

Xiaomin Luo, Wenhong Chen, Xia Chen, Yang Gao et al.

Feb 10, 2025

PubMed

Neurogenetic and Muscular Disorders Research

article

[Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17 926 women of reproductive age in Chongqing].

Xiaomin Luo, Wenhong Chen, Xia Chen, Yang Gao, Keya Tong

February 10, 2025article en

Abstract

This study provides a comprehensive assessment of the carrier frequency of SMA among women of childbearing age in Chongqing, offering valuable data for the primary and secondary prevention of SMA-related birth defects in the region.

PubMedVol. 42(2)

Chongqing Maternal and Child Health Hospital (CN), Children's Hospital of Chongqing Medical University (CN), Chongqing Medical University (CN)

Good health and well-being

Neurogenetic and Muscular Disorders Research

DOI Source OpenAlex

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