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目的探讨孕中期羊膜腔穿刺产前诊断胎儿染色体异常的经验。方法收集、分析孕中期羊水培养核型分析结果资料。主要的产前诊断指征包括高龄、产前血清学筛查高风险、胎儿超声检查异常等。染色体异常包括常染色体非整倍体,性染色体非整倍体及染色体结构异常。结果成功培养羊水细胞2052例,其中指征为高龄孕妇的占16.0%,血清学筛查阳性占75.0%,胎儿超声检查异常占4.5%,其它原因占4.5%。检出率最高的指征为胎儿超声检查异常。共检出75例染色体异常胎儿,其中非整倍体为51例(68.0%),染色体结构异常24例(32.0%)。结论本研究证明了羊水细胞用于诊断染色体异常胎儿的作用,其结果可用于临床遗传咨询。
Objective To investigate the experience of prenatal diagnosis of fetal chromosomal abnormalities by second trimester amniocentesis. Methods The karyotype analysis results of amniotic fluid during the second trimester were collected and analyzed. The main indications for prenatal diagnosis include advanced age, high risk of prenatal serological screening, abnormal fetal ultrasound examination and so on. Chromosomal abnormalities include autosomal aneuploidy, sex chromosome aneuploidy and chromosomal abnormalities. Results A total of 2052 cases of amniotic fluid cells were successfully cultured, of which 16.0% were indications for advanced pregnant women, 75.0% were serological tests, 4.5% were fetal ultrasound examinations, 4.5% were other causes. The highest detection rate of indications for fetal ultrasound examination abnormalities. A total of 75 fetuses with chromosomal abnormalities were detected, including 51 aneuploidy (68.0%) and 24 chromosomal abnormalities (32.0%). Conclusion This study demonstrates the role of amniotic fluid cells in the diagnosis of fetal chromosomal abnormalities and the results can be used in clinical genetic counseling.