Affiliation:
1. Zhejiang University
2. Lishui Maternal and Child Health Hospital
Abstract
Abstract
Objective
This study aimed to evaluate the effectiveness of single nucleotide polymorphism microarray (SNP-Array) in the etiological diagnosis 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 type of abnormality. The results of the SNP-Array test in amniotic fluids in different groups were analyzed.
Results
The non-CHD had the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, showing significant statistical differences compared to the other groups(p<0.001). In terms of CNV segment size distribution frequency, there was no statistical difference between the isolated congenital heart defect group and the non-isolated congenital heart defect group (p>0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated congenital heart defect group and the non-isolated congenital heart defect group (p>0.05).
Conclusion
SNP-Array improves the ability to detect of abnormal CNVs in CHD fetuses, providing valuable assistance in diagnosing chromosomal etiology and genetic counseling.
Publisher
Research Square Platform LLC
Reference32 articles.
1. Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013;Study C;Lancet,2015
2. Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis;Wang H;Arch Gynecol Obstet,2023
3. Survival in children with congenital heart disease: have we reached a peak at 97%?;Mandalenakis Z;J Am Heart Association,2020
4. Genetic detection of congenital heart disease;Rachamadugu SI;Gynecol Obstet Clin Med,2022
5. Genetic Basis of Human Congenital Heart Disease;Nees SN;Cold Spring Harb Perspect Biol,2020