摘要
Abstract
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.关键词
先天畸形/染色体异常/产前诊断/羊水穿刺/脐带血穿刺Key words
Congenital malformations/Chromosome karyotype/Prenatal diagnosis/Amniocentesis/Umbilical cord blood collection分类
医药卫生
