产前诊断中羊水染色体多态性的细胞与分子遗传学分析
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摘要
目的探讨产前诊断中染色体多态性的细胞与分子遗传学特征,为产前孕妇的科学妊娠提供理论依据。方法对2011年2月至2018年10月,在我院进行羊水染色体检查诊断为多态性核型308例病例进行回顾分析。结果 308例多态性核型中,1号、9号、16号及Y染色体异染色质增加或减少155例,9号和Y染色体臂间倒位87例,D组和G组随体及随体柄的增加或减少66例。7例为新发突变,301例遗传自临床表型正常的双亲之一。除1例新发15ps+基因芯片检出为11号染色体部分片断三体,1例新发21pstk+基因芯片检出为18号染色体部分片断三体选择终止妊娠外,其余306例均选择继续妊娠。结论胎儿染色体多态通常遗传自临床表型的双亲之一。新发突变的染色体多态性核型需进一步结合基因芯片或其他分子检测技术明确是否存在遗传物质增减,为孕妇科学妊娠提供理论依据。
Objective:To explore the morbidity and the influence of pregnant outcome of polymorphism on prenatal diagnosis,aimed to provide scientific guidelines for pregnant women. Methods:Reviewed and analyzed the chromosomal polymorphism at prenatal diagnosis from February 2011 to October 2018,fetal parent were proceed blood chromosomal karyotyping. Results:Among 308 cases of Polymorphism,of which 301 case were inherited from parents,of which 7 cases were de novo. 306 cases were choose to continue pregnancy except with two cases determined with pathogenic variation. Conclusion:Fetal polymorphism are often inherit from parents,de novo should offer CMA or other molecular tests to diagnosis whether genetic material increase or decrease,provide a safety and accuracy way of prenatal diagnosis for pregnant women.
Objective:To explore the morbidity and the influence of pregnant outcome of polymorphism on prenatal diagnosis,aimed to provide scientific guidelines for pregnant women. Methods:Reviewed and analyzed the chromosomal polymorphism at prenatal diagnosis from February 2011 to October 2018,fetal parent were proceed blood chromosomal karyotyping. Results:Among 308 cases of Polymorphism,of which 301 case were inherited from parents,of which 7 cases were de novo. 306 cases were choose to continue pregnancy except with two cases determined with pathogenic variation. Conclusion:Fetal polymorphism are often inherit from parents,de novo should offer CMA or other molecular tests to diagnosis whether genetic material increase or decrease,provide a safety and accuracy way of prenatal diagnosis for pregnant women.
引文
[1]尚秋杰,王亚男.染色体多态性与生殖异常的关系探讨[J].中国优生与遗传杂志,2018,26(1):45-46.
[2]付莉,等.男性不育患者Y染色体无精子因子基因微缺失的研究[J].中华医学遗传学杂志,2015,32(1):85-88.
[3]罗小金,胡亮,李高驰,等.不良孕产史夫妇异常及染色体多态性核型的临床表现和细胞遗传学分析[J].中国优生与遗传杂志,2015,12(6):42-44.
[4]Hsu LY,Kaffe S,Jenkins EC,et al.Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies[J].Prenat Diagn,1992,12(7):555-573.
[5]李丽莎,任洪进,宁郁玲,等.138例染色体多态的遗传学分析及临床表现[J].中华医学遗传学杂志,2007,24(3):362-364.
[6]Massart A,Lissens W,Tournaye H,et al.Genetic causes of sperm atogenic failure[J].Asian J Androl,2012,14(1):40-48.
[7]Ling Sun,Zhi-Heng Chen,Li Yang,et al.Chromosomal polymorphisms are independently associated with multinucleated embryo formation[J].J Assist Reprod Genet,2018,35:149-156.
[8]罗小金,胡亮,杨艳,等.615例产前诊断羊水染色体异常与多态性核型分析[J].中国优生与遗传杂志,2015,23(5):37-39.
[9]Hui Wang,Jiong Mao,Yu Xia,et al.Genetic polymorphisms of 17 Y-chromosomal STRs in the Chengdu Han population of China[J].Int Legal Med,2017,131:967-969.
[2]付莉,等.男性不育患者Y染色体无精子因子基因微缺失的研究[J].中华医学遗传学杂志,2015,32(1):85-88.
[3]罗小金,胡亮,李高驰,等.不良孕产史夫妇异常及染色体多态性核型的临床表现和细胞遗传学分析[J].中国优生与遗传杂志,2015,12(6):42-44.
[4]Hsu LY,Kaffe S,Jenkins EC,et al.Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies[J].Prenat Diagn,1992,12(7):555-573.
[5]李丽莎,任洪进,宁郁玲,等.138例染色体多态的遗传学分析及临床表现[J].中华医学遗传学杂志,2007,24(3):362-364.
[6]Massart A,Lissens W,Tournaye H,et al.Genetic causes of sperm atogenic failure[J].Asian J Androl,2012,14(1):40-48.
[7]Ling Sun,Zhi-Heng Chen,Li Yang,et al.Chromosomal polymorphisms are independently associated with multinucleated embryo formation[J].J Assist Reprod Genet,2018,35:149-156.
[8]罗小金,胡亮,杨艳,等.615例产前诊断羊水染色体异常与多态性核型分析[J].中国优生与遗传杂志,2015,23(5):37-39.
[9]Hui Wang,Jiong Mao,Yu Xia,et al.Genetic polymorphisms of 17 Y-chromosomal STRs in the Chengdu Han population of China[J].Int Legal Med,2017,131:967-969.