Chromosome abnormalities and copy number variations in fetuses with ultrasound soft markers: a retrospective study

Abstract

Purpose Although previous results revealed that genetic aberrations were associated with ultrasound soft markers, the detection rates of chromosomal aberrations and P/LP CNVs varied among different studies. Thus, the detection of chromosome abnormalities and copy number variations (CNVs) in fetuses with ultrasound soft markers were investigated in our study. Methods A total of 2422 fetuses, including 1005 fetuses with ultrasound soft markers and 1417 fetuses without ultrasound soft markers, were included in our study. CNV-seq, combined with karyotyping or QF-PCR, was performed to detect chromosome abnormalities and CNVs. Statistical analysis was performed using SPSS 19.0. Results Our study detected 28 and 22 chromosome abnormalities in fetuses with and without ultrasound soft markers, respectively. Meanwhile, 24 and 10 P/LP CNVs were detected in fetuses with and without ultrasound soft markers, respectively. These results revealed that the detection rates of chromosome abnormalities and P/LP CNVs were significantly increased in fetuses with ultrasound soft markers. Subsequent analysis unveiled that the detection rates of chromosome abnormalities and P/LP CNVs varied in fetuses with different ultrasound soft markers. The detection rates of chromosome abnormalities in fetuses with thickened NT elevated significantly, while P/LP CNVs were more likely detected in fetuses with renal abnormalities. Additionally, our results showed that the detection rates of chromosome abnormalities were positively correlated with NT thickness in fetuses with thickened NT. Conclusion Our results revealed that fetuses with ultrasound soft markers had a higher risk of chromosome abnormalities and P/LP CNVs.