Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Abstract Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of fetuses with is still unknown. This study aimed to evaluate genetic and clinical value chromosomal abnormalities copy number variations (CNVs) in markers. Methods Among 1131 fetuses, 729 had single marker, 322 two markers, 80 three or more All underwent conventional karyotyping, followed by nucleotide polymorphism (SNP) array analysis. Results 46 abnormalities. In addition consistent results karyotyping analysis, SNP identified additional 6.1% (69/1131) abnormal CNVs. The rate CNVs were 6.2%, 5.0%, respectively. No significant difference was among groups. Conclusions Genetic affect obstetrical outcomes. fully complement improve detection abnormalities, pregnancy