胎儿染色体异常与先天畸形类型关系的研究

摘要

目的:通过对产前诊断中确诊的染色体异常并伴有先天器官畸形的相关资料分析,总结胎儿染色体异常与畸形部位和畸形比例的关系,为提高产前诊断率提供理论依据.方法:回顾性分析2006年1月至2011年12月在北京大学人民医院产前诊断中心诊断并随访证实的染色体异常伴先天畸形的99例患者的临床资料,综合分析不同畸形分类和染色体异常的关系及比率.结果:99例患儿中,常染色体异常76例(76.77％),其中常染色体三体征64例(21-三体38例,18-三体12例,13-三体8例,14-三体1例,16-三体3例,8-三体1例,22-三体1例),常染色体结构异常12例(染色体部分缺失4例,染色体部分三体征8例)；性染色体数目或结构异常21例(男性性染色体异常12例,女性性染色体异常9例)；三倍体2例.99例患儿中75.76％ (75/99)存在1个或多个畸形,64.65％(64/99)同时存在2个或2个以上畸形,19.19％(19/99)同时存在5个或5个以上畸形；65.66％ (65/99)伴有不同程度心脏畸形,61.62％ (61/99)存在心外脏器畸形.结论:染色体异常可伴有众多基因的增加或减少,可同时伴有多种脏器畸形,不同染色体异常伴发脏器畸形的类型及比率也各不同.建议在产前检查中可疑胎儿脏器畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常的患儿.%Objective:To analyse the clinical data of cases with congenital malformations and chromosome abnormalities,and to investigate the association between congenital malformations and chromosome abnormalities prenatal cases,and to provide base for improving prenatal diagnosis. Methods:The clinical data of cases with congenital malformations and chromosome abnormalities during Jan 2006 to Dec 2011 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were analyzed retrospectively. The associations between the chromosomal karyotypes and the types of congenital malformations were comprehensively analyzed. Results:Among 99 cases with congenital malformations,abnormal autosomes were 76 cases (76.77%), in which autosomes trisomies were 64 cases( including trisomy 21 in 38 cases,trisomy 18 in 12 cases,trisomy 13 in 8 cases,trisomy 14 in 1 cases,trisomy 16 in 3 cases,trisomy 8 in 1 cases,trisomy 22 in 1 cases),autosomes structure abnormalities were 12 cases(including partial deletion of chromosome in 4 cases, partial trisomy of chromosome in 8 cases) ,sex chromosomal abnormalities in 21 cases (including male sex chromosomal abnormalities in 12 cases,female sex chromosomal abnormalities in 9 cases ) and triploid in 2 cases. Among 99 cases ,75 cases (75. 76%) were with one or more congenital malformations ,64 cases (64.65%) were with two or more malformations, 19 cases(19.19%) were with five or more malformations,65(65.66%)cases were with different degrees of heart malformations,61 (61.62%) cases were with other malformations. Conclusions: There are close relationships between chromosome abnormalities and congenital malformations,and different abnormal karyotypes could have different types of congenital malformations. Chromosome examinations should be undertaken in those patients with congenital malformations to avoid the birth of malformed infants.