产前诊断染色体异常与妊娠结局的临床分析

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4 808例,年龄19～42岁,平均30.5岁。病例均进行了细胞培养染色体核型分析,培养成功率99.5%,诊断准确率100%;部分病例进行了FISH检查并经核型分析证实诊断准确;妊娠结局随访方式为电话、分娩医院病历采集等。结果 153例染色体异常核型中常染色体数目异常102例,其中21-三体73例(双胎之一21-三体2例)、18-三体22例、13-三体4例、9-三体及三倍体各1例;常染色体结构异常27例;性染色体数目异常15例;嵌合体9例。产前诊断指征依次为胎儿彩超异常、高龄、唐筛高风险、不良妊娠史、NT值增高、染色体平衡易位携带者。130例选择终止妊娠,23例选择继续妊娠。对已出生的20例新生儿随访仅发现1例源自母亲染色体平衡易位的婴儿表现为轻度智力障碍。结论胎儿系统超声及胎儿超声心动图异常、高龄、唐氏筛查高危与胎儿染色体异常发生率密切相关,是否继续妊娠应综合染色体畸变的类型、遗传学规律及夫妇双方的生育情况作决定。

Clinical analysis and pregnancy outcome of fetus with chromosomal abnormality in prenatal diagnosis

Objective To identify the relationship between prenatal diagnosis indications and abnormal karyotype in mid/late-duration of pregnancy,and investigate the necessity of invasive prenatal diagnosis for high risk gravida.Methods A total of 4 808 high-risk pregnant women at age from 19 to 42 with a mean age 30.5 were recruited in our genetic consultant department between August 2006 and April 2011.Fetal umbilical vein blood or amniotic fluid were derived by amniocentesis and then used for cell culture and karyotype analysis.Fluorescent in situ hybridization(FISH) was conducted to evaluate the accuracy of the karyotype analysis.Fetal ultrasonic inspection and follow-up visit of pregnancy outcome were also carried out.Results Of the153 chromosomal abnormalities,there were 102 with numerical abnormalities of autosome,including 73 cases of trisomy 21 syndrome(2 cases of the syndrome are one from twins),22 cases of trisomy 18 syndrome,4 cases of trisomy 13 syndrome,1 case of trisomy 18 syndrome and 1 case of triploid.There were 27 cases with structural abnormalities of autosome,15 cases with numerical abnormalities of sex chromosome and 9 cases of chimeras.Prenatal diagnosis indications included abnormal color-ultrasonogram,advanced age,high risk for Down syndrome,dys-pregnancy history,high value of NT and balanced chromosome translocation carrier.Of all the chromosomal abnormalities cases above,23 chose to continue pregnancy and 130 choose to terminate pregnancy.Conclusion In the prenatal diagnosis indications of mid/late-duration of pregnancy,abnormal color-ultrasonogram,advanced age and high risk for Down syndrome are closely related to the occurrence of fetus chromosomal abnormalities.In this group of high-risk pregnant women,there are 69.28% fetuses with chromosomal abnormalities.So for the couple who have fetus with chromosomal abnormality,they should make a decision according to the percentage of chromosomal abnormalities,genetic rules,and their breeding status if they want to keep the baby.