A Study on the Efficacy of Amniotic Fluid Chromosome Karyotype Analysis in Prenatal Diagnosis
Objective To Explore the efficacy of analyzing abnormal karyotype characteristics of amniotic fluid chromosomes in prenatal diagnosis.Methods A total of 92 patients diagnosed with prenatal amniocentesis which were admitted to the Aksu Maternal and Child Health Hospital(District Health Service Center),Xinjiang Uygur Autonomous Region from March 2022 to January 2024 were selected as the research subjects.The specific distribution of abnormal karyotypes in amniotic fluid cell chromosomes were analyzed,and the detection of abnormal karyotypes in different prenatal indications and advanced age mothers were compared.Results From the distribution perspective,the main chromosomal abnormalities in amniotic fluid cells were trisomy syndrome,with 49 cases accounting for 53.26%,followed by balanced translocation pregnancy,with 25 cases accounting for 27.17%.One case of marker chromosome chimerism,accounting for 1.09%.In trisomy syndrome,the main type is trisomy 21 syndrome,with a total of 42 cases,accounting for 45.65%.From the detection of various prenatal diagnostic indicators,had the highest proportion of high-risk cases in serological screening was 28.26%(26/92);the proportion of an advanced age(≥35 years old)was 26.09%(24/92);noninvasive prenatal testing(NIPT)screening accounted for 23.91%(22/92).Among them,there were the lowest cases of chromosomal translocation carriers,accounting for 3.26%(3/92).From the detection situation of elderly parturients,as they aged,their detected abnormal karyotypes showed an upward trend.Among them,the detection rate of abnormal karyotype in women aged>41-45 years old was 42.86%(18/92),which was different from the detection rates of 11.11%(2/92)and 12.50%(4/92)in women aged 35-37 years old and>37-41 years old,with significant statistical differences(P<0.05).Conclusion In prenatal amniocentesis diagnosis,chromosomal abnormalities in amniotic fluid cells are mainly characterized by trisomy syndrome and balanced translocation.The risk of karyotype abnormalities is higher in advanced age(≥35 years old),high-risk serological screening,and high-risk NIPT screening.Therefore,it is necessary to strengthen prenatal diagnostic examinations for advanced age,high-risk serological screening,and high-risk NIPT screening mothers,and provide scientific guidance and intervention to effectively reduce the birth rate of defective infants.
amniotic fluid cellschromosomal abnormalitieskaryotypetrisomy syndromecopy number variationprenatal diagnosis
万方数据
维普
