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目的探讨采用PAPP-A、β-hCG和超声等联合筛查法在孕早期筛查Down’s综合征及其他胚胎染色体异常的可行性及诊断方案。方法酶联免疫法(ELISA)对孕7-13w的30例超声发现胚胎异常或自然流产孕妇(病例组)血清中的β-hCG、PAPP-A 2种血清标记物进行检测,同步行人工流产或清宫术取绒毛组织,对绒毛细胞染色体进行核型分析以证实孕早期筛查染色体异常的可行性,同时对病例组30例超声检查显示胚胎异常儿与对照组(要求人工流产终止妊娠孕妇)35例超声未发现胚胎异常儿染色体异常率的比较。比较分析病例组有不同孕产史的30例孕妇胚胎异常儿染色体异常率。结果β-hCG、PAPP-A两项指标及超声联合筛查,以1/250作为风险截断值,病例组胚胎染色体异常的阳性检出率为60%,假阳性率为8%;染色体核型分析病例组胚胎确诊染色体异常共5例,21三体1例,18三体1例,三倍体3例,对照组胚胎未发现染色体异常。病例组胚胎染色体异常率明显比对照组高,差异有统计学意义。病例组有不良孕产史的孕妇胚胎染色体异常率比无既往史的孕妇胚胎染色体异常率高,差异有统计学意义。结论 PAPP-A、β-hCG和超声等联合筛查法在产前筛查唐氏综合征的同时,也可查出其它染色体异常,这对孕早期胚胎异常的病因、诊断和及优生指导有重要的临床意义。
Objective To investigate the feasibility and diagnostic scheme of screen screening Down’s Syndrome and other chromosomal abnormalities in embryos by PAPP-A, β-hCG and ultrasound screening. Methods The serum levels of β-hCG and PAPP-A in 30 pregnant women (case group) with abnormal fetus or spontaneous abortion were detected by enzyme-linked immunosorbent assay (ELISA) in 30 pregnant women of 7-13 weeks. Or curettage to take villus tissue, karyotype analysis of chorionic cell chromosomes to verify the feasibility of screening for chromosomal abnormalities in early pregnancy, while the case group 30 cases of ultrasound showed abnormal embryos and control group (abortion termination of pregnant women) Comparison of 35 Cases with Abnormal Abnormal Chromosome Abnormalities Found by Ultrasound. Thirty cases of abnormal fetal chromosomal abnormalities in pregnant women with different pregnancy history were analyzed. Results The β-hCG and PAPP-A combined with ultrasound screened with 1/250 as risk cut-off value showed that the positive rate of chromosomal abnormality in case group was 60% and the false positive rate was 8%. Chromosomal karyotype There were 5 cases of chromosomal abnormalities diagnosed in case group, 1 case of trisomy 21, 1 case of trisomy 18 and 3 cases of trisomy. There were no chromosomal abnormalities in control group. Case group embryos chromosomal abnormalities significantly higher than the control group, the difference was statistically significant. In the case group, the rate of fetal chromosomal abnormalities in pregnant women with a history of adverse pregnancy was higher than that in pregnant women without previous history, the difference was statistically significant. Conclusions PAPP-A, β-hCG and ultrasound combined with screening screening for Down’s syndrome in the prenatal period can also be found in other chromosomal abnormalities, which in the first trimester embryo abnormalities etiology, diagnosis and guidance of eugenics Important clinical significance.