Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.

doi:10.1080/07853890.2025.2610892

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Article

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.

Annals of medicine - 1 Dec 2026

Li Huanyun, Gao Shanshan, Li Shaojun, Zhao Zhenhua, Fu Xinyu, Zhu Jingqi, Feng Jun, Tang Weiqin, Wu Di, Kong Xiangdong

Abstract excerpt

BACKGROUND: To validate the clinical efficacy of non-invasive prenatal diagnosis (NIPD) for spinal muscular atrophy (SMA) in the first trimester and extend its applicability to families without probands. METHOD: From December 2020 to October 2024, 288 high-risk pregnancies were recruited prospectively, with 81 qualifying for NIPD after genetic counseling. Among the eligible cases, parent-based haplotypes were...

Read the complete abstract on PubMed

Topics

Humans
Female
Pregnancy
Muscular Atrophy, Spinal
Adult
Noninvasive Prenatal Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Haplotypes

Survival of Motor Neuron 1 Protein

Prospective Studies

Polymorphism, Single Nucleotide

Cell-Free Nucleic Acids

Pregnancy Trimester, First

Prenatal Diagnosis

Survival of Motor Neuron 2 Protein

Early Diagnosis

Gestational Age

Male

Genetic Counseling

Source

Open in PubMed Open full text

Identifiers

PMID: 41489856
DOI: 10.1080/07853890.2025.2610892
PMCID: PMC12777998

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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