Analysis of fetal chromosome results of 1013 pregnant women with different prenatal diagnosis indications in Qinzhou area
Objective To explore the application value of different prenatal diagnosis indications in fetal chromoso-mal abnormalities in Qinzhou area.Methods A total of 1013 pregnant women with prenatal diagnosis indications in Qinzhou Maternal and Child Health Care Hospital from February 2021 to March 2023 were selected as the research objects.The dif-ferent prenatal diagnosis indications,fetal chromosome karyotype analysis and CNV-seq test results were retrospectively ana-lyzed.Results Among the 1013 samples,78 cases of fetal chromosomal abnormalities were detected,including 64 cases of chromosomal abnormalities,10 cases of pathogenicity and 4 cases of possibly pathogenic CNVs.An additional 93 cases of CNVs with unknown clinical significance were detected.The top three indications for prenatal diagnosis were:Ultrasound abnormalities(35.54％),advanced age(19.84％),and high risk of serological screening(13.52％).The top three indications of chromosomal abnormalities detected in fetuses were:One of the couples had chromosomal abnormalities(33.33％),NIPT abnormalities(25.00％),and high risk of serological screening(8.03％).The highest indication of CNVs with unknown clinical significance was NT thickening(22.00％),followed by ultrasound abnormalities(10.56％).Conclusion The detection of fetal chromosomal abnormalities in Qinzhou area is mainly related to one of the couples'chromosomal abnormalities,NIPT ab-normalities,and high-risk indications for serological screening.NT thickening and ultrasound abnormalities can detect more CNVs with unknown clinical significance.Genetic counseling and prenatal diagnosis should be done in combination with clinical information to improve the efficiency of prenatal diagnosis.
indicationsprenatal diagnosiskaryotype analysiscopy number variation
NETL
NSTL
万方数据
