39例染色体易位胎儿的遗传咨询及预后分析  

The genetic counseling and prognostic analysis on 39 cases of chromosomal translocation fetuses

作　　者：董媛[1] 齐科研[1] 李维[1] 杨洁[1] 任建宇[1] 王一鹏[1] DONG Yuan QI Ke-yan LI Wei YANG Jie REN Jian-yu WANG Yi-peng(Department of Clinical Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, Chin)

机构地区：[1]首都医科大学附属北京妇产医院,北京妇幼保健院检验科,北京100026

出　　处：《中国优生与遗传杂志》2017年第4期58-61,共4页Chinese Journal of Birth Health & Heredity

基　　金：首都医科大学附属北京妇产医院中青年学科骨干培养专项(fcyy201534);首都医科大学基础-临床合作基金(15JL76)

摘　　要：目的分析不同种类染色体易位对胎儿的临床效应,为遗传咨询提供更准确的依据。方法通过羊水染色体核型分析选取39例胎儿染色体易位病例,并召回胎儿父母行外周血溯源分析,并对出生后胎儿情况进行电话随访。结果 39例胎儿染色体易位病例中,包括不平衡易位5例;平衡易位34例,其中罗氏易位13例,相互易位21例。父母染色体核型溯源分析发现5例不平衡易位中4例为遗传而来,1例为新发突变;34例平衡易位胎儿核型中,遗传型有28例(父源14例,母源14例),新发突变6例。电话随访39例染色体易位胎儿出生后情况:3例失访;5例不平衡易位胎儿中1例出生且发育异常,余4例均因超声检查发现多发畸形引产;31例平衡易位胎儿出生后除1例检查出心脏卵圆孔未闭,其余均生长发育良好。结论平衡易位胎儿生长发育情况均较好,不平衡易位胎儿建议结合超声结果进行合理的遗传咨询,避免出生缺陷的发生。产前诊断中发现胎儿染色体易位时,父母染色体溯源分析可为胎儿的遗传咨询提供更准确依据。Objective：To analyze the clinical effect on fetuses with different kinds of chromosomal translocation,and to provide the accurate basis for genetic counseling. Methods：39 cases of chromosomal translocation fetuses were selected by amniotic fluid karyotype analysis,and their parents were recalled with peripheral blood karyotype analysis.Birth outcomes were collected by telephone after birth. Results：39 cases of chromosomal translocation fetuses were including 5 cases of unbalanced translocation and 34 cases of balanced translocation.Balanced translocation contained 13 cases of Robertsonian translocation and 21 cases of reciprocal translocation.Traceability analysis of the parents′ karyotype found that in 4 of 5 cases of unbalanced translocation was inherited,1 case of de novo.Of the 34 cases of balanced translocation fetuses′ karyotypes,28 cases were inherited（14 paternal and 14maternal）and 6 cases of novel mutations.Telephone follow-up the 39 cases of chromosome translocation after birth：3 cases were lost;1 of 5 cases of unbalanced translocation was born with dysplasia,other four cases were forced to abortion because of multiple malformations by ultrasound examination. The growth and development of 31 cases of balanced translocation fetuses were good,except 1 case with foramen ovale（PFO）in a heart. Conclusion：Balanced translocation fetuses usually had well growth and development.However,reasonable genetic counseling should be given to unbalanced translocation fetuses combining with ultrasound results to avoid the occurrence of birth defects. The parents′ chromosome karyotype analysis was suggested to be done when fetal chromosomal translocation found.It was important to provide provide more accurate basis for genetic counseling.

关 键 词：染色体易位 生育结局 产前诊断 易位携带者 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]