论文部分内容阅读
目的了解产前诊断中,高龄孕妇所怀胎儿发生染色体新发变异的类型,及与年龄的相关性。方法回顾性分析2004年到2012年间到本产前诊断中心就诊的8595例患者,其中35岁及以上的高龄孕妇共3037例(35.33%),进行羊水或脐血染色体核型分析,根据其异常种类加做父母外周血染色体检查以明确为遗传性变异或是新发变异。结果在高龄孕妇中胎儿染色体异常99例(3.26%,99/3037),新发的染色体异常共53例(53.54%,53/99,占总高龄人数中1.75%,53/3037),新发常染色体变异37例(21-三体21例(56.76%,21/37),18-三体9例(24.32%,9/37),其它的各种异常7例(18.92%,7/37),新发性染色变异16例(47,XXX及嵌合体5例,47,XXY及嵌合体5例,45,X及嵌合体4例,47,XYY/46,XY嵌合体2例)。结论产前诊断中高龄孕妇新发染色体异常比例约1.75%,常染色体新发变异以21-三体为主。
Objective To understand the types of new chromosome aberrations in prenatal diagnosis of pregnant fetus and its correlation with age. Methods A retrospective analysis of 8595 patients who visited the prenatal diagnosis center from 2004 to 2012 was conducted. Among them, 3037 (35.33%) pregnant women aged 35 and over received chromosomal karyotype analysis of amniotic fluid or cord blood. According to their abnormalities Species plus parents of peripheral blood chromosomes to clear the genetic variation or new mutation. Results There were 99 (3.26%, 99/3037) cases of fetal chromosomal abnormality in pregnant women of advanced age, 53 cases of new chromosomal abnormalities (53.54%, 53/99, 1.75%, 53/307% of total senior citizens) There were 37 cases of autosomal variation (21 cases of trisomy 21, 21 cases of trisomy 21, 37 cases of trisomy 18, 9 cases of trisomy 18, 7 cases of other abnormalities 7 cases ), 16 cases of new hair dyeing variation (47, XXX and 5 cases of chimerism, 47 cases of XXY and 5 cases of chimerism, 45 cases of X, 4 cases of chimerism, 47 cases of XYY / 46 and 2 cases of XY chimera). Conclusions The proportion of newly diagnosed chromosomal abnormalities in prenatal diagnosis is about 1.75% in pregnant women, and 21- trisomy is the main new mutation of autosomal.