论文部分内容阅读
目的:探讨唐氏筛查高风险羊水产前诊断胎儿核型。方法:对341例唐氏筛查高风险羊水产前诊断胎儿核型进行统计分析。结果:唐氏筛查总例数7 162例,唐氏综合征高风险419例,筛查阳性率5.85%,其中,341例接受羊水产前诊断胎儿核型,诊断胎儿染色体异常核型9例,检出率为2.64%,其中,4例47,--,+21;1例47,XX,+10〔3〕/46XX〔57〕;1例45,XX,der(14;21)(q10;q10),1例69,XXX;1例45,XO;1例46,X,inv(Y)(p11q11)。结论:唐氏筛查高风险羊水产前胎儿异常核型以47,--,+21为主要核型。对唐氏综合征高风险的孕妇羊水染色体检查能降低新生儿缺陷活产。
Objective: To investigate the Down’s screening of high-risk amniotic fluid prenatal diagnosis of fetal karyotype. Methods: 341 cases of Down’s screening of high-risk amniotic fluid prenatal diagnosis of fetal karyotype statistical analysis. Results: There were 7 162 cases of Down’s screening, 419 cases of Down’s syndrome, and the positive rate of screening was 5.85%. Among them, 341 cases were diagnosed as fetal karyotype by amniocentesis and 9 cases were diagnosed as fetal karyotype , The detection rate was 2.64%, of which 4 cases 47, -, +21; 1 case 47, XX, +10 〔3〕 / 46XX 〔57〕; 1 case 45, XX, der (14; 21) ( q10; q10), 1 case 69, XXX; 1 case 45, XO; 1 case 46, X, inv (Y) (p11q11). Conclusion: Down’s screening of high-risk amniotic fluid prenatal abnormal karyotype 47, -, + 21 as the main karyotype. Chromosome examination of amniotic fluid in pregnant women with high risk of Down Syndrome can reduce neonatal defective live births.