羊水染色体多态性与妊娠结局的关系分析  

The Relationship between Amniotic Fluid Chromosomal Polymorphism and Pregnancy Outcome

作　　者：龙洋[1] 徐聚春[1] 胡斌[1] 董艳玲[1] 胡华梅[1] 章容[1] 姚宏[1] 

机构地区：[1]第三军医大学附属西南医院,重庆400038

出　　处：《实用妇产科杂志》2016年第8期615-617,共3页Journal of Practical Obstetrics and Gynecology

摘　　要：目的:探讨羊水染色体多态性与妊娠结局的关系,为产前诊断染色体多态性的临床处置提供理论依据。方法:对3960例高危孕妇行羊膜腔穿刺术,抽取羊水经培养后制备染色体核型并进行分析,诊断为染色体多态性的胎儿,其父母接受外周血染色体检查,并对1岁龄婴儿期生长发育情况进行跟踪随访。结果:3960例羊水染色体核型共检出多态性核型116例,其中114例多态性核型来自于父母其中一方,仅1例9qh-和1例22ps+为新生变异。随访发现110例胎儿孕中晚期及出生后1岁以内,未见明显生长发育异常;1例inv(9)于孕29+2周不明原因胎死宫内;1例新生9qh-胎儿,孕晚期B超发现胎儿头围、腹围较实际孕周小2周,出生8个月后随访身高、体重及运动协调能力发育较同龄儿稍低;另一例新生变异22ps+,孕期及出生后随访未见明显异常;4例失访,妊娠结局未知。结论:具有明确遗传来源的染色体多态性变异可参照其父辈的身体智力发育情况予以判断其妊娠结局,新发生的胎儿多态性变异对其妊娠结局及今后的生长发育情况可能造成一定的负面影响,但其影响的具体机制及对应关系还有待进一步研究。Objective：To explore the relationship between amniotic fluid chromosomal polymorphism and preg- nancy outcome and to provide the theory basis for clinical treatment of chromosome polymorphism in prenatal di- agnosis. Methods：The chromosome sample of fetal amniotic fluid cells from 3960 cases of high risk pregnant women by amniocentesis were prepared and analyzed conventionally. And the peripheral blood chromosome was examed in the parents when the fetus was diagnosed with chromosome polymorphism. We also followed up the first year of the neonatal period growth situation of these fetuses. Results：116 cases were found to be chromo- somal polymorphism from 3960 fetal amniotic fluid cells, among which 114 cases of polymorphism karyotype came from one of their parents,only 1 case of 9 qh -and 1 case of 22ps ＋were new variation. In the follow up visiting we found that 110 fetuses with no obvious abnormal growth and development during the middle-late pregnancy and the first year after birth;1 case of inv（9） in 29 ＋2 weeks gestation was found unexplained intrauterine fetal death ;1 case of 9 qh - fetus was found to be 2 weeks smaller than actual gestational age in head circumference and abdominal circle during late pregnancy ,and this fetus also with lower height,weight and movement coordina- tion ablity after the birth of eight months;another new variation case of 22ps ＋, In the follow up visiting no found obvious abnormal growth and development,4 cases were lost to follow-up and the pregnancy outcome is un- known. Conclusions： Pregnancy outcomes of chromosome polymorphism variation which have clear genetic source can be judged according to the body developmental situation of their parents. And new occurrence of poly- morphism variation may cause certain negative influence on the pregnancy outcome,the future growth and development. However,the specific mechanism of chromosomal polymorphism on pregnancy outcome remains to be further researched.

关 键 词：产前诊断 羊水 染色体多态性 妊娠结局 

分 类 号：R714.55[医药卫生—妇产科学]