羊水细胞染色体多态和结构异常的遗传学分析  

Genetic analysis of amniotic fluid chromosomal polymorphism and chromosomal structural abnormalities

作　　者：李茜[1] 胡苏玮 徐贵江[1] 张坡[1] 刘明艳 韦文莉 童鸣 LI Qian;HU Su-wei;XU Gui-jiang;ZHANG Po;LIU Ming-yan;WEI Wen-li;TONG Ming(Medical Genetic Center,Yangzhou Maternal and Child Health Care Service Centre,The Affiliated Hospital of Yangzhou University Medical College,Yangzhou 225002 Jiangsu,China)

机构地区：[1]扬州市妇幼保健院医学遗传中心

出　　处：《中国优生与遗传杂志》2019年第8期941-943,共3页Chinese Journal of Birth Health & Heredity

基　　金：江苏省妇幼健康科研项目(F201672);扬州市科技计划项目(YZ2016064)

摘　　要：目的分析胎儿羊水细胞染色体多态和结构异常的亲代来源,为临床遗传咨询提供科学依据。方法对4123例高危孕妇行羊膜腔穿刺,共4097例羊水细胞培养成功并进行染色体核型分析。对于分析结果为染色体多态或染色体结构异常的病例,召回胎儿父母进行外周血染色体核型分析。结果 4097例羊水共检出染色体多态核型40例,35例召回胎儿父母进行染色体检查,结果显示胎儿的染色体多态均遗传自亲代一方,随访33例婴儿发育正常,2例失访;检出染色体结构异常核型20例,召回20对父母进行染色体检查,发现15例遗传自亲代一方,5例为新发染色体突变。随访15例核型与亲代一方一致的婴儿均发育正常,3例发生染色体新发突变胎儿因胎儿超声或染色体微阵列结果异常而选择引产,另有2例失访。结论羊水细胞染色体核型分析结果为染色体多态性或结构异常时应召回父母做染色体检查以明确亲代来源。胎儿染色体多态及染色体平衡型结构重排源自亲代一方,且父母无异常临床表型时可建议继续妊娠,染色体结构异常为新发突变时应结合其他检查结果谨慎咨询,预防不良妊娠结局。Objective:To explore the parental origin of amniotic fluid chromosomal polymorphism and structural abnormalities as well as to provide scientific guidelines for genetic counseling. Methods:The amniotic fluid cells from 4123 cases of high risk pregnant women by amniocentesis were prepared,and 4097 cases were successfully cultured and analyzed conventionally. The peripheral blood was detected in the parents when the fetus was diagnosed with chromosome polymorphism or structural abnormalities. Results:In 4097 cases,40 cases were found to be chromosomal polymorphism among which 35 cases were analyzed to determine the origin of abnormal karyotype,and all the polymorphism karyotype cases came from one of their parents. In the follow-up visiting,we found that 33 cases were born with no obvious abnormal growth and development,but 2 cases were lost to follow-up. Twenty cases were found to be chromosomal structural abnormalities. All of them were analyzed to determine the origin of abnormal karyotype,15 familial and 5 de novo mutations were found.In the follow-up visiting,15 familial cases were born with no obvious abnormal growth and development. Three cases of unbalanced structural rearrangements were detected with abnormalities by the ultrasound or chromosome microarray,the rest 2 cases were lost to follow-up. Conclusion:Pregnancy outcomes of chromosomal polymorphism and balanced structural rearrangements which have clear genetic source can be judged according to the normal phenotype of their parents. New chromosomal mutations should be judged carefully combining with the result of other examinations.

关 键 词：产前诊断 染色体多态 染色体结构异常 

分 类 号：R714.55[医药卫生—妇产科学]