孕中期染色体非平衡易位胎儿的产前诊断分析

发布时间：2018-04-28 11:29

本文选题：产前诊断 + 染色体异常　；参考：《实用医学杂志》2016年15期

【摘要】：目的:探讨产前诊断中非平衡易位胎儿的产前指征分布、临床特征及妊娠结局,为孕中期孕妇妊娠选择提供科学依据。方法:对2011年5月至2016年3月,在我院行羊水染色体核型分析并诊断为非平衡相互易位胎儿进行回顾研究分析。结果:35例非平衡相互易位胎儿中,29例(82.86%,29/35)具有胎儿超声异常特征,6例(17.14%,6/35)未检出胎儿超声异常。35例中,8例为新发突变易位,27例为父母系遗传易位,主要产前指征为超声异常17例、夫妇易位携带者8例、不良生育史5例、唐氏筛查高风险3例及高龄2例,其中2例易位携带者夫妇连续两次孕相同非平衡易位核型胎儿。35例均选择了终止妊娠。结论:孕中期产前诊断中超声异常指征与非平衡易位紧密相关,异常的易位核型通常来源于双亲之一平衡易位携带者。非平衡易位胎儿涉及大片段基因增加或丢失,易导致胎儿多发畸形,通常需及时终止妊娠。
[Abstract]:Objective: to investigate the distribution, clinical features and pregnancy outcome of prenatal diagnosis of non-balanced translocation fetuses, and to provide scientific basis for the selection of pregnant women in the second trimester. Methods: the chromosomal karyotype analysis of amniotic fluid was performed in our hospital from May 2011 to March 2016. Results among 35 cases of non-equilibrium reciprocal translocation, 29 cases (82.86% 29 / 35) showed abnormal fetal ultrasound in 6 cases and 17.14% of 35 cases. Of the 35 cases, 8 cases were new mutation translocation, 27 cases were parental genetic translocation, 17 cases were the main prenatal indications. There were 8 cases of couple translocation carrier, 5 cases of abnormal birth history, 3 cases of high risk screening and 2 cases of old age. Among them, 2 cases of translocation carrier couple selected termination of pregnancy. Conclusion: the abnormal indication of ultrasound in the second trimester prenatal diagnosis is closely related to the unbalanced translocation. The abnormal translocation karyotype usually comes from one of the parents, the balanced translocation carrier. Non-balanced translocation fetus is involved in the increase or loss of large fragments of genes, which can lead to multiple malformations of the fetus, so the pregnancy usually needs to be terminated in time.
【作者单位】：广东省深圳市龙岗区妇幼保健院;江西省吉安桐坪医院;
【基金】：深圳市龙岗区重点科技计划项目(编号:YLWS20140610155624914)
【分类号】：R714.5;R440

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