论文部分内容阅读
目的通过分析徐州地区孕中期孕妇的羊水细胞异常染色体核型的病因,探讨产前筛查与产前诊断的临床价值。方法对我院符合产前诊断指征的1626例孕妇进行羊水细胞培养及染色体核型分析,发现112例异常核型,并分析这些异常核型的病因。结果高龄(≥35岁)37例,占33.03%;唐氏征高风险33例,占29.46%;18-三体风险3例,占2.68%;单纯Free-βHCG MOM>2.52例,占1.79%;单纯Free-βHCG MOM<0.515例,占13.39%;单纯hAFP MOM<0.73例,占2.68%;hAFP MOM<0.7且Free-βHCG MOM<0.53例,占2.68%;夫妇一方染色体异常4例,占3.57%;曾生育染色体异常儿6例,占5.36%;不良孕产史6例,占5.36%。异常核型中唐氏综合征13例,占异常核型11.60%;18-三体1例,占0.89%;13-三体2例,占1.78%;超雌3例,占2.68%;特纳氏综合征2例,占1.79%;平衡异位5例,占4.46%;大Y35例,占31.25%;小Y26例,占23.21%。结论高龄、唐氏综合征高风险、夫妇一方染色体异常、Free-βHCG MOM偏低,是产前诊断最主要的指征;三体综合征、性染色体异常是孕期的主要异常核型。
Objective To analyze the etiology of abnormal karyotype of amniotic fluid cells in pregnant women of second trimester in Xuzhou area and to explore the clinical value of prenatal screening and prenatal diagnosis. Methods 1626 pregnant women with prenatal diagnosis indications in our hospital were collected for amniotic fluid cell culture and karyotype analysis. 112 cases of abnormal karyotype were found and the etiology of these abnormal karyotypes were analyzed. Results 37 cases (33.03%) were elderly (≥35 years old), 33 cases were Down’s syndrome (29.46%), 3 cases were risk of trisomy (2.68%), 2.52 cases were Free-βHCG MOM ; Pure Free-βHCG MOM <0.515 cases, accounting for 13.39%; simple hAFP MOM <0.73 cases, accounting for 2.68%; hAFP MOM <0.7 and Free-βHCG MOM <0.53 cases, accounting for 2.68%; couple chromosomal abnormalities in 4 cases, accounting for 3.57%; 6 had chromosomal abnormalities in children, accounting for 5.36%; 6 cases of poor pregnancy history, accounting for 5.36%. In the abnormal karyotype, 13 cases of Down Syndrome, accounting for 11.60% of the abnormal karyotype, 1 case of 18-trisomy, accounting for 0.89%, 2 cases of 13-trisomy, accounting for 1.78%, 3 cases of super-estrus, accounting for 2.68% Nay’s syndrome in 2 cases, accounting for 1.79%; 5 cases of ectopic balance, accounting for 4.46%; large Y35 cases, accounting for 31.25%; small Y26 cases, accounting for 23.21%. Conclusion The high incidence of Down syndrome, high risk of Down syndrome, chromosome abnormalities on one side and low Free-βHCG MOM are the most important indications for prenatal diagnosis. Trisomy syndrome and sex chromosome abnormalities are the main abnormal karyotype during pregnancy.