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目的探讨进行羊膜腔穿刺取羊水细胞培养染色体检查的临床意义。方法对妊娠中期符合产前诊断指征的孕妇取羊水进行羊水细胞培养和染色体核型分析。结果具有产前诊断指征的孕妇2476例,发现染色体异常核型129例,异常率5.21%;其中21-三体占34.1%(44/129),18-三体占9.30%(12/129),性染色体的数目异常占10.1%(13/129);染色体的结构异常35.7%(46/129)。其中发现8例世界首报核型。结论通过对具有产前诊断指征的孕妇如:唐氏筛查高风险、高龄、夫妻染色体异常、不良孕史及B超软指标异常者进行产前诊断,可以有效降低孕妇的自然流产、减少出生缺陷患儿的发生,达到优生优育以提高人口素质。
Objective To investigate the clinical significance of amniocentesis by amniocentesis in chromosomal examination of amniotic fluid cells. Methods In the third trimester of pregnancy, amniotic fluid was collected for amniotic fluid cell culture and karyotype analysis in pregnant women who were consistent with prenatal diagnosis. Results There were 2476 pregnant women with prenatal diagnosis indications. There were 129 cases of chromosomal aberration karyotype with abnormal rate of 5.21%. Among them, 21 cases accounted for 34.1% (44/129), and 18 cases accounted for 9.30% (12/129) ), The number of sex chromosome abnormalities accounted for 10.1% (13/129); chromosomal structural abnormalities 35.7% (46/129). Eight of the world’s first reported karyotypes were found. Conclusion Prenatal diagnosis of pregnant women with indications for prenatal diagnosis such as Down’s screening of high-risk, advanced age, couple chromosomal abnormalities, poor pregnancy history and abnormalities of B-ultrasound can effectively reduce the spontaneous abortion of pregnant women and reduce The birth of children with birth defects, to prenatal and postnatal care to improve the quality of the population.