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目的:了解近年北京市西城区医院出生缺陷产前筛查及产前诊断情况,为加强二级预防,提高人口素质提供有效措施。方法:对2007年10月～2008年9月北京市西城区产科医院上报的“出生缺陷登记卡-产前筛查与产前诊断情况”进行统计,并对统计结果进行分析。结果:①2007年10月～2008年9月西城区围产期出生缺陷儿475例,163例由产前筛查发现异常,137例进行了产前诊断,98例于妊娠28周前引产。②21-三体共12例,其中8例通过产前筛查发现,1例唐氏假阴性漏诊,1例超声筛查发现异常,2例未进行产前筛查。③475例出生缺陷儿中,未能通过产前筛查发现的共279例,其中前5位依次为:先天性心脏畸形、外耳畸形、隐睾、多指(趾)、马蹄内翻足。结论:①西城区21-三体的产前检出率高,与其具有较高的筛查诊断水平有关。②高度重视超声软指标。超声筛查对于弥补血生化筛查有重要意义,提高技术、规范操作非常必要。
Objective: To understand the prenatal screening and prenatal diagnosis of birth defects in Xicheng District Hospital in Beijing in recent years, and to provide effective measures to strengthen secondary prevention and improve population quality. Methods: The “Birth Defects Registration Card - Prenatal Screening and Prenatal Diagnosis” reported by the obstetric hospital of Xicheng District, Beijing from October 2007 to September 2008 were statistically analyzed and the statistical results were analyzed. Results: ① From October 2007 to September 2008, there were 475 cases of perinatal birth defects in Xicheng District. 163 cases were found abnormal by prenatal screening, 137 cases were diagnosed by prenatal diagnosis and 98 cases were induced by pregnancy 28 weeks ago. ②21- trisomy in 12 cases, of which 8 cases were detected by prenatal screening, 1 case of false negative Negative Down’s syndrome, 1 case of ultrasound found abnormalities, 2 cases did not conduct prenatal screening. Among the 475 cases of birth defects, 279 cases were not found by prenatal screening. Among them, the top five were congenital heart malformation, outer ear deformity, cryptorchidism, multiple fingers and clubfoot. Conclusion: ① The prenatal detection rate of 21-trisomy in Xicheng District is high, which is related to its high screening diagnostic level. ② attaches great importance to ultrasound soft index. Ultrasound screening for making blood biochemical screening make sense, to improve technology, standardize the operation is necessary.