Analysis of chromosomal karyotypes of amniotic fluid from 883 prenatal fetuses in Huaibei Region,Anhui Province
Objective To investigate the prevalence of abnormal chromosomal karyotype in amniotic fluid cells from penatal fetuses in the Huaibei Region and to analyze the detection rates of abnormal chromosomal karyotype across different populations based on indications for prenatal diagnosis.Methods This study is a retrospective analysis.A total of 883 pregnant women who visited the Prenatal Diagnosis Center at Huaibei Maternal and Child Health Care Hospital between January 2018 and December 2022 were included in this study.All participants had indications for prenatal diagnosis and underwent sterile amniocentesis under ultrasound guidance.Amniotic fluid was collected for dual culture of amniotic fluid cells and chromosomal karyotype analysis.Results The success rate of amniotic fluid specimen culture was 99.55％(879/883).The detection rate of abnormal karyotypes was 9.22％(81/879),with numerical abnormalities accounting for 76.54％(62/81),structural abnormalities for 17.28％(14/81),and chimerism for 6.17％(5/81).The detection rates of abnormal karyotypes based on various prenatal diagnostic indications are summarized below:2.56％(8/313)in the high-risk group for Down syndrome screening,36.57％(49/134)in the high-risk group for non-invasive prenatal testing,4.23％(9/213)in the group with abnormal B-ultrasound findings,6.90％(10/145)in the advanced age group(≥ 35 years),25.00％(4/16)in the group with chromosomal abnormalities in either the mother or her partner,and 1.72％(1/58)in the group with adverse pregnancy outcomes.Conclusion Prenatal diagnosis is of great significance for detecting chromosomal abnormalities in fetuses.In the Huaibei Region,numerical abnormalities account for the highest proportion of detected prenatal fetal chromosomal abnormalities.The detection rates vary among different prenatal diagnostic indication groups,with non-invasive prenatal testing demonstrating the highest sensitivity.
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