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目的了解近年来北京市西城区医院监测染色体畸形发生情况。方法对2005年10月1日~2010年9月30日间北京市西城区产科医院孕13周一产后7d的胎儿及新生儿进行出生缺陷监测,并对监测结果进行率及顺位等分析。结果 (1)监测到染色体畸形118例,发生率为30.39/万;(2)监测到24种染色体畸形,发生率前三位依次是唐氏综合征(17.25/万)、18-三体(3.09/万)、特纳征(5.08/万);(3)染色体畸形患儿产前诊断率为75.42%,活产率为21.19%,其母亲高龄构成比为54.24%。结论西城区具有较高的染色体畸形产前诊断率;监测到染色体畸形种类较多。
Objective To understand the incidence of chromosomal abnormalities monitored by Xicheng District Hospital in Beijing in recent years. Methods From October 1, 2005 to September 30, 2010, birth defects were detected in fetus and newborn fetus of 7 weeks postpartum at 13 weeks of pregnancy in Xicheng District of Beijing from January 1, 2005 to September 30, 2010, and the monitoring results were analyzed. Results (1) Chromosome aberration was detected in 118 cases, the incidence was 30.39 / million; (2) 24 chromosomal abnormalities were detected, the first three were followed by Down Syndrome (17.25%), 18- trisomy 3.09 / million) and Turner syndrome (5.08 / million). (3) The prenatal diagnosis rate of children with chromosomal abnormalities was 75.42%, the live birth rate was 21.19%, and the age-specific ratio of their mothers was 54.24%. Conclusion Xicheng District had a higher rate of prenatal diagnosis of chromosomal abnormalities and more types of chromosomal abnormalities were detected.