The yield of using single-nucleotide polymorphism-based chromosomal microarray analysis in diagnosis the genetic etiology of fetal growth restriction.

Abstract

Background and objects: Intrauterine growth restriction (IUGR) is a common and complex obstetricsc condition, especially when accompanied by congenital abnormalities. The aim of this research is to diagnose the genetic abnormalities in IUGR fetuses with malformation on ultrasound.

Subjects and methods.: Cross-sectional descriptive study performed from 2021 to 2023 at the Prenatal diagnosis center of National Hos-pital of Obstetric and Gynecology, collected total of 129 cases IUGR suitable for research.

Results: The average gestational age at which growth restriction was 25.40 ± 4.86 weeks, IUGR fetuses often accompanied malformations, most of them belong to the cardiovascular system, 75 cases undergoing amniocentesis for karyotyping and SNP Array testing to examine genetic abnormalities. There were 26 cases detected with genetic abnormalities, including 8 cases by both methods, 16 cases with positive Array but negative karyotype, Array SNP can detect twice the number of cases that could be missed, 16 pathogenic copy number variations (CNVs) including gains and deletions, related to some specific clinical syndromes.

Conclusion: CMA technology shows quite effective application value in determining genetic causes of IUGR and Array SNP should be recommended for use.