经腹胎盘穿刺诊断遗传性疾病

Prenatal Diagnosis of Chromosomal Disease by Placentacentesis

对1584例孕妇经腹胎盘穿刺和(或)羊膜腔穿刺,进行产前诊断遗传性疾病。612例经腹胎盘穿刺获得绒毛标本,822例羊膜腔穿刺羊水细胞进行培养,二种方法同时进行者206例,分别进行染色体检测。结果1584例孕妇(26例双胎)1610次穿刺中,1572例(97.64%)产前诊断一次成功,30例进行第2次穿刺(1.86%)。其中1524个胎儿(94.66%)染色体正常,78例(4.84%)染色体异常,另8例(0.50%)失败。胎儿自然丢失11例(0.68%)。无1例发生术后阴道出血和(或)胎盘后血肿。结论:胎盘穿刺及羊膜穿刺在遗传性疾病的产前诊断上具有准确、可靠、危险性小的优点,值得推广应用。

1610 times of centesis were taken to get samples from 1584 gravidas (26 cases were twins).612 chorial samples were obtained through placentacentesis to make chromosome;822 cases of cells in amniotic fluid were obtained by amniocentesis for culture and identification of chromosome; and 206 cases had centesis of both placenta and amnion.1572 prenatal diagnosis of 1584 gravidas were confirmed by 1610 times of centesis.The first trial success rate was 97.64 %.Second centesis were done in 30 cases(1.86%).The results revealed that 1524 fetus chromosomes were normal(94.66%);78 cases were abnormal(4.84%);and the rest 8 cases failed.The total fetus lost rate was 0.68%(11 cases) including abortion,pretermbirth,stillbirth and neonatorum death.No vaginal bleeding and retroplacental hematoma happened.The placentacentesis has the merits of reliability,accuracy and lower risk,and is now available for further application.