产前诊断染色体异常胎儿的临床分析及妊娠结局的 - 第三军医大学学报.doc

产前诊断染色体异常与妊娠结局的临床分析 姚 宏，徐聚春，胡 华，董艳玲，伍海霞，李俊男，胡 斌，龙 洋，梁志清，常 青（400038重庆，第三军医大学西南医院妇产科产前诊断中心） [摘要]目的 探讨中、晚孕期孕妇产前诊断指征与胎儿染色体异常核型发生的关系，分析不同产前诊断指征胎儿染色体异常的发生率，为孕妇选择妊娠结局提供科学依据。方法 选择我院2006 年8月至2011年4月经遗传咨询门诊明确的高危孕妇4808例，年龄19～42 岁，linical analysis and study of pregnancy outcome of fetus with chromosomal abnormality in prenatal diagnosis Yao Hong，Xu Juchun，Hu Hua，Dong Yanling，Wu Haixia，Li Junnan， Hu Bin，Long Yang，Liang Zhiqing，Chang Qing （Department ofrenatal Diagnosis Center，Department of Obstetrics and Gynecology，Southwest Hospital，Third Military Medical University，Chongqing 400038）relationship between prenatal diagnosis indicatio and abnormal karyotype in mid/late-duration of pregnancy. Discuss the necessity of invasive prenatal diagnosis for high risk gravida. Methods 4808 high risk pregnant women were recruited in our genetic consultant department between 2006 Auguest and 2011 April, mean age 30.5. Fetal umbilical vein blood or amniotic fluid were derived by amniocentesis and used for cell culture and karyotype analysis. FISH was conducted to evaluate the accuracy of the karyotype analysis. Fetal ultrasonic inspection and follow-up visit of pregnancy outcome were also conducted. Results Of the153 chromosomal abnormalities, there were 102 numerical abnormalities of autosome, 27 structural abnormalities of autosome, 15 numerical abnormalities of accessory chromosome and 9 chimeras. In the 102 autosomal numerical abnormalities, there were 73 trisomy 21 syndrome (2 trisomy 21 syndrome in one of the twins), 22 trisomy 18 syndrome, 4 trisomy 13 syndrome, 1 trisomy 9 syndrome and 1 triplont. Prenatal diagnosis indicatio included abnormal color-transonogram, advanced age, high risk for Down-syndrome, dys-pregnancy, high value of NT and balanced chromosome translocation carrier. Of all the chromosomal abnormalities cases above, 23 choose to continue pregnancy and 130 choose to terminate pregnancy. Conclusion In the prenatal diagnosis indicatio of mid/late-duration of pregnancy,