Research Objects:
In this study, a retrospective study was conducted on 4158 pregnant
women whose age ranged from 15 to 52 years old and gestational weeks
ranged from 15+4 to 33+6. They
underwent amniocentesis and chromosome test by CNV-seq and karyotyping
simultaneously at the center of genetic and prenatal diagnosis of the
first affiliated hospital of Zhengzhou University from May 2018 to
December 2019. The indications for prenatal diagnosis included abnormal
results on Down’s Syndrome Screening(1889 cases), abnormal fetal
ultrasound(680 cases), abnormal result on noninvasive prenatal
screening(631 cases), advanced maternal age(480 cases), adverse
pregnancy history(241 cases), abnormal parental chromosomes(208 cases),
and voluntary testing(101 cases). This study was approved by the medical
ethics committee of the first affiliated hospital of Zhengzhou
University, and all patients signed the informed consent.