2003～2010年3790例孕妇产前诊断结果分析

Analysis on the results of prenatal diagnosis of 3 790 pregnant women from 2003 to 2010

目的:探讨妊娠中期不同指征孕妇行羊膜腔穿刺的临床意义。方法:对2003年～2010年间在无锡市妇幼保健院产前接受羊膜腔穿刺术的3 790例孕妇的资料进行回顾性分析。结果:3 790例孕妇均一次穿刺成功,羊水培养成功率99.23%(3 761/3 790);唐氏综合征筛查高风险接受羊膜腔穿刺者占73.64%(2 791/3 790);染色体核型异常检出率4.85%(184/3790),夫妇双方之一染色体异常时子代染色体异常检出率最高,达22.58%(7/31),孕妇高龄羊膜腔穿刺者阳性率5.99%(27/451);中孕血清学筛查21-三体及18-三体高风险病例穿刺阳性诊断率为4.37%(122/2 791)、9.09%(8/88);因羊膜腔穿刺者结果异常终止妊娠率55.43%(102/184)。结论:妊娠中期羊膜腔穿刺是安全可靠的侵入性产前诊断方法,详细收集孕妇病史信息、结合超声检测结果明确产前诊断指征可提高异常染色体核型的检出率。

Objective：To explore the clinical significance of amniocentesis for prenatal diagnosis of pregnant women with different indications during the second trimester of pregnancy.Methods：The clinical data of 3 790 pregnant women who had received amniocentesis in the hospital from 2003 to 2010 were analyzed retrospectively.Results：Amniocentesis was successfully performed on all cases,the success rate of amniotic fluid cells culture was 99.23%（3 761/3 790）.Among the pregnant women receiving amniocentesis,the proportion of pregnant women with high risk of Down＇s syndrome screening accounted for 73.64%（2 791/3 790）.The detection rate of abnormal chromosomal karyotype was 4.85%（184/3 790）,when one of the couple was found with abnormal chromosome,the detection rate of abnormal chromosome among their offsprings was the highest,up to 22.58%（7/31）;among the elderly pregnant women receiving amniocentesis,the positive rate was 5.99%（27/451）;among the pregnant women during the second trimester of pregnancy with high risk of serological screening of trisomy 21 and trisomy 18,the positive diagnostic rate of amniocentesis was 4.37%（122/2 791） and 9.09%（8/88）,respectively;55.43% of the pregnant women（102/184） terminated pregnancy because they were found with abnormal results of amniocentesis.Conclusion：Amniocentesis during the second trimester of pregnancy is a safe and effective invasive method for prenatal diagnosis,collecting detailed medical history data of pregnant women,confirming the indications of prenatal diagnosis combined with ultrasonography may increase the detection rate of abnormal chromosomal karyotype.