Assessing the clinical application value of SNP-array in fetal central nervous system malformations.

ABSTRACT:

Background

Single nucleotide polymorphism array (SNP-array) has been introduced for prenatal diagnosis. This study aims to evaluate the clinical utility of SNP-array in the prenatal central nervous system (CNS) malformations.

Methods

A retrospective study was conducted on 437 prenatal cases involving CNS malformations and other structural abnormalities detected by ultrasound. Samples were categorized into three groups: Single CNS malformation, Multiple CNS malformations, and CNS malformations with multiple system malformations. SNP-array and karyotype analysis were simultaneously performed on the Fetal samples. Comparative analysis of data was conducted using SPSS (χ2).

Results

SNP-array analysis of 437 samples revealed an overall abnormality detection rate of 19.0%,

SUBMITTER: Li W 

PROVIDER: S-EPMC12628932 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature