Abstract
Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. We attempted to explore the relationship between types of ultrasonically abnormal late pregnancy fetuses and CNVs. Fetuses (n = 713) with ultrasound-detected abnormalities in late pregnancy and normal karyotypes were analyzed. Of these, 237 showed fetal sonographic structural malformations and 476 showed fetal non-structural abnormalities. Single nucleotide polymorphism (SNP)-based chromosomal microarray (CMA) was performed on the Affymetrix CytoScan HD platform. Using the SNP array, abnormal CNVs were detected in 8.0% (57/713) of the cases, with pathogenic CNVs in 32 cases and variants of uncertain clinical significance (VUS) in 25 cases. The detection rate of abnormal CNVs in fetuses with sonographic structural malformations (12.7%, 30/237) was significantly higher (P = 0.001) than that in the fetuses with non-structural abnormalities (5.7%, 27/476). Overall, we observed that when fetal sonographic structural malformations or non-structural abnormalities occurred in the third trimester of pregnancy, the use of SNP analysis could improve the accuracy of prenatal diagnosis and reduce the rate of pregnancy termination.
Highlights
Many fetuses are found to have ultrasonic abnormalities in the late pregnancy
chromosomal microarray (CMA) is a high-resolution and genome-wide screening screening technology for the human genome. It is divided into two categories: Microarray based Comparative Genomic hybridization and single nucleotide polymorphism array (SNP), both of which can detect chromosomal microdeletions or microduplications
This study retrospectively analyzed the results of Single nucleotide polymorphism (SNP) analysis of 713 cases, from 2016 to 2019, and explored the relationship between types of ultrasonically abnormal late pregnancy fetuses and copy number variations (CNVs)
Summary
Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. CMA is a high-resolution and genome-wide screening screening technology for the human genome It is divided into two categories: Microarray based Comparative Genomic hybridization (aCGH) and single nucleotide polymorphism array (SNP), both of which can detect chromosomal microdeletions or microduplications. Because of the lack of technical expertise in hospitals, obstetric ultrasound examination is only carried out in the second and third trimesters of pregnancy and some structural abnormalities are found only later with fetal development, resulting in a missed examination time for chorionic villus sampling and amniocentesis (Typically, chorionic villus sampling is performed at 10–12 weeks’ gestation, and amniocentesis is performed at 15–18 weeks’ gestation) At these later points, it becomes necessary to employ cordocentesis for cytogenetic analysis and to further clarify the cause of abnormality. This study retrospectively analyzed the results of SNP analysis of 713 cases, from 2016 to 2019, and explored the relationship between types of ultrasonically abnormal late pregnancy fetuses and CNVs
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