76例羊水胎儿染色体结构异常临床分析

发布时间：2018-06-19 03:08

本文选题：羊水穿刺 + 染色体　；参考：《中国妇产科临床杂志》2015年06期

【摘要】：目的通过对妊娠中期孕妇羊水染色体结构异常产前诊断指征分布、发病率及妊娠结局的分析,探讨妊娠中期胎儿染色体结构异常的妊娠结局。方法对2011年2月至2015年3月2 562例羊水染色体检查中76例染色体结构异常孕妇的临床资料进行回顾性分析。结果 2 562例羊水标本中,检出76例(2.97%)染色体结构异常,其中染色体倒位29例,相互易位25例,不平衡易位11例,复杂重排5例,其他结构异常6例。76例患者中,55例患者选择继续妊娠,其中29例染色体倒位,23例相互易位,3例复杂重排;21例患者选择终止妊娠,其中染色体不平衡易位11例,复杂重排2例,其他结构异常6例,X与常染色体新发突变易位1例,遗传型易位伴Turner综合征1例。结论产前诊断中羊水染色体结构异常主要为染色体倒位、相互易位、不平衡易位及复杂重排。绝大部分相互易位及倒位的结构异常可以选择继续妊娠。不平衡易位及复杂重排由于涉及基因片段的增加或丢失,大部份选择终止妊娠。
[Abstract]:Objective to study the pregnancy outcome of fetal chromosomal structure abnormality in the second trimester of pregnancy by analyzing the distribution, incidence and outcome of prenatal diagnosis of amniotic fluid chromosomal structural abnormality in the second trimester of pregnancy. Methods from February 2011 to March 2015, the clinical data of 76 pregnant women with abnormal chromosomal structure in amniotic fluid from February 2011 to March 2015 were retrospectively analyzed. Results among the 2 562 amniotic fluid samples, 76 cases were found to have abnormal chromosomal structure, including 29 cases of chromosome inversion, 25 cases of mutual translocation, 11 cases of unbalanced translocation and 5 cases of complex rearrangement. Among the 6 patients with other structural abnormalities, 55 patients chose to continue pregnancy. Among them, 29 patients with chromosome inversion 23 patients with reciprocal translocation and 3 patients with complicated rearrangement chose to terminate pregnancy, including 11 patients with chromosomal imbalance translocation and 2 patients with complex rearrangement. Other structural abnormalities were found in 6 cases with autosomal new mutation translocation in 1 case and genetic translocation with Turner syndrome in 1 case. Conclusion in prenatal diagnosis, chromosomal abnormalities in amniotic fluid are mainly chromosomal inversion, mutual translocation, unbalanced translocation and complex rearrangement. Most of the structural abnormalities of mutual translocation and inversion can choose to continue pregnancy. Unbalanced translocation and complex rearrangement involve the increase or loss of gene fragments, most of them choose to terminate pregnancy.
【作者单位】：深圳市龙岗区妇幼保健院产前诊断中心;
【基金】：深圳市龙岗区重点科技计划项目(YLWS2014 0610155624914)
【分类号】：R714.5

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