侵入性产前诊断指征与染色体核型检出结果的对比分析

The contrastive analysis about indication for invasive prenatal diagnosis and the result of chromosome karyotype detecting

目的探讨侵入性产前诊断指征选择对胎儿染色体异常核型检测的意义。方法对我院2004-07～2009-09间1 133例因妊娠中期孕母血清学筛查高危、孕母年龄≥35岁、超声筛查或检查异常、不良孕产史(包括自然流产史、死胎死产、胎儿畸形、出生缺陷)等不同指征的孕妇进行侵入性产前诊断,取材羊水或脐带血,经培养成功后进行染色体核型分析,指征分单一指征及复合指征。结果全部病例中共检出异常核型38例(3.35%)。在单一的指征中,超声测量胎儿NT值增高、母高龄、母血清学筛查高危的常染色体三体(包括21+三体、18-三体)检出率分别为5.0%、1.62%和0.49%;总的异常核型检出率最高为生育畸形儿或畸胎史11.76%,其次为胎儿B超异常6.9%,自然流产史5.9%。而复合指征中,高龄+NT值增高的常染色体三体检出率为14.29%;高龄+胎儿B超异常的常染色体三体检出率为5.88%;总异常核型检出率为17.65%。结论对高龄孕妇直接进行产前诊断,仍是一条检测出胎儿常染色体三体综合征的主要途径。关注超声检测胎儿NT值增高、胎儿异常以及有不良孕产史孕妇,尽可能地在孕期检出患有染色体疾病的胎儿,降低出生缺陷。

Objective To analyze the significance about detecting the fetal abnormal karyotype with the selection of indication for invasive prenatal diagnosis. Methods One thousand, one hundred and thirty-three pregnant women accepted invasive prenatal diagnosis （amniocentesis or percutaneous umbilical blood sampling）in our hospital from July 2004 to September 2009 base on the different indications such as high risk maternal serum screening in the second trimester pregnancy, the age of pregnant woman t〉35 years, the abnormal result by ultrasound measurement of fetal nuchal translucency or fetal ultrasound examination, bad pregnant or generational history（ include spontaneous abortion, stillbirth, fetal death, fetal anomaly, birth defect）, and these indications were classified into single or multiple. The fetal karyotype analysis would be taken after cell culture from amniotic fluid or cord blood. Results There were 38 cases with abnormal karyotype （3.35%） being detected in totally 1 133 cases. The different single indication with the detecting of abnormal karyotype were compared. The detecting rate of the autosome trisome in order was 5.0% （high NT）, 1.62% （the age of pregnant woman ≥35 years）, and 0. 49% （high risk in maternal serum screening）, the detecting rate of total abnormal karyotype from high to low was 11.76% （the history of fetal anomaly or birth defect）, 6.9% （fetal abnormal by ultrasound examination）, 5.9% （spontaneous abortion history）. In the multiple indication, the detecting rate of autosome trisome was 14. 29% （the age of pregnant woman ≥35 years ＆ high NT）, 5. 88% （the age of pregnant woman ≥35 years ＆ fetal abnormal by ultrasound examination）. The total detecting rate of abnormal kayotype was 17.56%. Conclusion It is still a major route for detecting the fetal autosome trisome that taking the prenatal diagnosis to the pregnant women who will be 35 years or older on their due date. We suggest to pay elose attention to the pregnant women who displayed fetal high NT or fetal abnormal in B ultrasound examination, having the bad pregnant ＆ generational history, then hope to potentially detect the fetal who has chromosomal disease, in order to decrease birth defect.