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Published in: BMC Pregnancy and Childbirth 1/2024

Open Access 01-12-2024 | Chromosomal Abnormality | Research

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

Authors: Fenglei Ye, Xiayuan Xu, Yi Wang, Lifang Chen, Qunda Shan, Qijing Wang, Fan Jin

Published in: BMC Pregnancy and Childbirth | Issue 1/2024

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Abstract

Background

Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies.

Objective

This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities.

Methods

A total of 2092 pregnant women who underwent prenatal diagnosis from 2017 to 2022 were included in the study and divided into four groups based on the presence of ultrasound structural abnormalities and the specific type of abnormality. The results of the SNP-Array test conducted on amniotic fluid samples from these groups were analyzed.

Results

Findings from the study revealed that the non-isolated CHD group exhibited the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, demonstrating statistically significant differences from the other groups (p < 0.001). Regarding the distribution frequency of copy number variation (CNV) segment size, no statistically significant distinctions were observed between the isolated CHD group and the non-isolated CHD group (p > 0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated CHD group and the non-isolated congenital heart defect group (p > 0.05).

Conclusion

SNP-based CMA enhances the capacity to detect abnormal CNVs in CHD fetuses, offering valuable insights for diagnosing chromosomal etiology and facilitating genetic counseling. This research contributes to the broader understanding of the utility of SNP-based CMA in the context of fetal cardiac ultrasound abnormalities.
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Metadata
Title
The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities
Authors
Fenglei Ye
Xiayuan Xu
Yi Wang
Lifang Chen
Qunda Shan
Qijing Wang
Fan Jin
Publication date
01-12-2024
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2024
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-024-06428-9

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