The 2 860 cases of amniotic cell karyotype analysis on different indication of antenatal diagnosis

Abstract:

Objective To discuss the relationship between the chromosomal abnormal karyotype and the indication of antenatal diagnosis.Methods To perform amniocentesis under the B-ultrasonic guidance and then conduct the amniotic cell culture and karyotype analysis，from the 2 860 cases of pregnant women with different indication of antenatal diagnosis，who came to the Department of Obstetrics and Gynecology，Woman and Children's Hospital of Chongqing Medical University from January 2019 to December 2019.Results The success rates of amniotic cell culture were 96.2%. Total 119 chromosomal polymorphisms cases were detected with 4.33% ratio and 153 cases were abnormal karyotypes with detection rate of 5.56%，among which the ratio of numerical abnormality was 43.1%（66/153），the ratio of abnormal structure was 38.6%（59/153），and the ratio of chimera abnormality was 18.3%（28/153）. In the prenatal diagnosis indication，the detection rate of known family history of chromosome disorders was highest（32.93%），and secondly was that of NIPT（non invasive prenatal testing）（28.99%）. Chromosomal abnormal karyotype detection rate in very advanced maternal age（≥40） with other prenatal diagnosis indication was significantly higher than that of in advanced maternal age（35-39） with other prenatal diagnosis indication and in very advanced maternal age（≥40） without other prenatal diagnosis indication.Conclusion Chromosome karyotype analysis of amniotic cells in pregnant women can provide theoretical reference for prenatal diagnosis and prenatal consultation.