产前胎儿染色体倒位的临床诊断分析

发布时间：2018-04-10 19:46

本文选题：染色体 + 染色体倒位　；参考：《实用医学杂志》2017年13期

【摘要】：目的探讨孕中期胎儿染色体倒位的产前诊断指征分布及临床效应。方法选取2011年2月至2016年12月在我院进行羊水染色体核型分析检出的96例胎儿染色体倒位病例进行回顾性分析。结果 96例病例中产前诊断指征为高龄妊娠者32例、唐氏筛查高风险者26例、倒位携带者20例、不良孕产史者10例及B超结果异常者8例。新发突变倒位9(9.4%,9/96)例,遗传自双亲87例(90.6%,87/96)。新发突变病例中超声异常检出6例(66.7%,6/9),遗传型超声异常检出1例(1.1%,1/87)。96例病例中除5例伴随超声结果异常及2例伴随非整倍体异常选择终止妊娠外,其余均选择了继续妊娠。结论产前诊断中检出染色体倒位应进一步明确倒位是新发突变还是遗传自双亲之一。新发突变者应建议定期超声观察,并结合基因芯片等分子检测手段是确定胎儿是否存在遗传物质的改变,为孕妇提供准确妊娠指导。
[Abstract]:Objective to investigate the distribution and clinical effect of prenatal diagnosis of fetal chromosome inversion in the second trimester of pregnancy.Methods from February 2011 to December 2016, 96 cases of fetal chromosome inversion were analyzed retrospectively.Results among 96 cases, 32 cases were diagnosed by prenatal diagnosis, 26 cases were high-risk by Down's screening, 20 cases were inverted carrier, 10 cases had bad pregnancy history and 8 cases had abnormal results of B-mode ultrasound.There were 9 / 96 / 9 / 96 cases of new mutation inversion, which were inherited from 87 parents (90.6%) and 87 / 96% (n = 96).Among the new mutation cases, 6 cases were found to have abnormal ultrasound, 6 cases were diagnosed as 66.770 / 9%, and 1 case was detected by genetic mode ultrasound abnormality, except 5 cases with abnormal results of ultrasound and 2 cases with abnormal aneuploidy to terminate pregnancy, the rest of them chose to continue pregnancy except for 5 cases with abnormal results of ultrasound and 2 cases with abnormal aneuploidy.Conclusion the detection of chromosome inversion in prenatal diagnosis should further clarify whether the inversion is a new mutation or one of the genetic parents.New mutagens should suggest regular ultrasound observation and molecular detection such as gene chip to determine whether the fetus has genetic material changes and to provide accurate pregnancy guidance for pregnant women.
【作者单位】：广东省深圳市龙岗区妇幼保健院;
【分类号】：R714.5

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