Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes——A single-center retrospective study

Abstract

Aims To detect abnormal chromosome karyotypes in amniotic fluid cells and to explore the relationship among various prenatal diagnostic indications, karyotypes, and pregnancy outcomes. Methods The data used in this study were obtained from 6,572 pregnant women at high risk for fetal chromosomal abnormalities who visited the Luzhou Prenatal Diagnostic Center for amniocentesis from January 2017 to February 2023. The data were accessed from May to October 2023. Upon admission to the hospital, all pregnant women underwent amniocentesis guided by B-mode ultrasound, followed by karyotyping. Results The culture success rate of amniotic fluid was 99.98% (6,571/6,572), with 216 cases of abnormal karyotypes detected (3.29%), including 3 rare cases. There were significant differences in the detection rates of abnormal karyotypes by indication (χ2 = 449.661, P < 0.001), with high-risk noninvasive prenatal testing having the highest rate (36.0%), followed by chromosomal abnormalities in one or both spouses (16.1%). A total of 6,065 cases were followed up (92.3%), and most pregnancy terminations were due to fetal chromosomal abnormalities, specifically numerical abnormalities (86.2%). Conclusions All pregnant women with prenatal diagnostic indications should be actively encouraged to undergo prenatal diagnosis and genetic counseling based on their individual circumstances to provide appropriate reproductive guidance, reduce the risk of abnormal births, and promote eugenics.