The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

Fenglei Ye; Xiayuan Xu; Yi Wang; Lifang Chen; Qunda Shan; Qijing Wang; Fan Jin

doi:10.1186/s12884-024-06428-9

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

BMC Pregnancy Childbirth. 2024 Apr 5;24(1):244. doi: 10.1186/s12884-024-06428-9.

Authors

Fenglei Ye^#^{1

2}, Xiayuan Xu^#^{1

3}, Yi Wang², Lifang Chen^{1

2}, Qunda Shan^{1

4}, Qijing Wang^{5

6}, Fan Jin⁷

Affiliations

¹ Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics of National Ministry of Education, Women's Hospital, School of Medicine, Zhejiang University, 1 Xueshi Road, Hangzhou, 310000, China.
² Department of Obstetrics, Lishui Maternal and Child Health Hospital, Lishui, 323000, China.
³ Department of Laboratory, Jinhua Maternal and Child Health Hospital, Jinhua, 321000, China.
⁴ Department of Prenatal Diagnosis Center, Lishui Maternal and Child Health Hospital, Lishui, 323000, China.
⁵ Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics of National Ministry of Education, Women's Hospital, School of Medicine, Zhejiang University, 1 Xueshi Road, Hangzhou, 310000, China. qijingwang@zju.edu.cn.
⁶ Department of Gynecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, 310000, China. qijingwang@zju.edu.cn.
⁷ Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics of National Ministry of Education, Women's Hospital, School of Medicine, Zhejiang University, 1 Xueshi Road, Hangzhou, 310000, China. jinfan@zju.edu.cn.

^# Contributed equally.

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.

Keywords: Congenital heart disease; Copy number variation; Prenatal diagnosis; Single nucleotide polymorphism microarray.

MeSH terms

Chromosome Aberrations
DNA Copy Number Variations*
Female
Heart Defects, Congenital* / diagnostic imaging
Heart Defects, Congenital* / genetics
Humans
Microarray Analysis / methods
Pregnancy
Prenatal Diagnosis / methods
Ultrasonography / adverse effects

Abstract

MeSH terms

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