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目的探讨妊娠中期唐氏综合征产前筛查对胎儿染色体异常核型检出的实用价值。方法对5057例孕中期孕妇血清进行甲胎蛋白(AFP)、β绒毛膜促性腺激素(β-HCG)及游离雌三醇(uE3)的测定,利用分析软件进行风险评估,高风险孕妇进行羊膜穿刺羊水细胞染色体核型分析。结果 5057例孕妇中唐氏综合征高风险孕妇263例,筛查阳性率为5.20%,其中247例孕妇进行了羊水细胞培养,异常检出率为6.48%。检出21-三体6例,纯合型5例和嵌合型1例;染色体结构异常4例,46,XX,t(2;17)、45,X,der(14;21)各1例,46,XY,inv(9)2例;非整数倍核型2例,克氏综合症(KS)47,XXY和超Y综合征47,XXY各1例。染色体多态3例,46,XY,1qh+、46,XX,22p+、46,XY,Yp+各1例。结论应用孕妇血清三联生化指标进行产前筛查,是预测21-三体胎儿和其他异常核型胎儿的有效指标,结合羊水细胞培养指导孕妇妊娠,对减少缺陷儿出生具有重要临床价值。
Objective To investigate the practical value of prenatal screening for Down’s syndrome during the second trimester in detection of fetal karyotype abnormalities. Methods The serum levels of AFP, β-HCG and uE3 in 5057 pregnant women of the second trimester were measured. The software was used to assess the risk. The high-risk pregnant women were treated with amniotic membrane Chromosome karyotype analysis of amniotic fluid. Results Among 5057 pregnant women, 263 were pregnant women with high risk of Down’s syndrome. The positive rate of screening was 5.20%. Among them, 247 pregnant women were cultured with amniotic fluid. The abnormal detection rate was 6.48%. There were 6 cases of 21-trisomy, 5 cases of homozygous and 1 case of chimerism. The chromosomal abnormalities were detected in 4 cases (1 case), 46 cases (XX), t Cases of 46, XY, inv (9) 2 cases; non-integer multiple karyotype in 2 cases, Kirschner’s disease (KS) 47, XXY and super Y syndrome 47 cases, XXY each in 1 case. Chromosome polymorphism in 3 cases, 46, XY, 1qh +, 46, XX, 22p +, 46, XY, Yp + in 1 case. Conclusion Prenatal screening with triple biochemical markers of serum in pregnant women is an effective indicator for predicting 21-trisomy and other abnormal karyotype fetuses. Combined with amniotic fluid cell culture to guide pregnant women’s pregnancy, it has important clinical value in reducing the birth of defective fetus.