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目的:探讨出生缺陷的诊断方法,提高产前诊断率。方法:对2007年1～12月在该院住院分娩的孕13周～产后7天的152例出生缺陷儿的产前诊断情况进行回顾性分析。结果:在不同孕周发现的前5位出生缺陷分别是:<28周为:多发重大畸形、染色体异常、胎儿肿瘤、神经系统畸形和腹裂内脏外翻;28周～为:先天性心脏病(先心病)、多发重大畸形、唇腭裂、神经系统畸形、骨骼以及泌尿系统畸形;≥37周为:先心病、唇腭裂、泌尿系统畸形、骨骼系统畸形、腹裂内脏外翻;平均产前诊断率是38.82%;20例做尸体解剖的出生缺陷儿的诊断完全符合8例,部分符合10例,漏诊2例。结论:提高产前诊断率是降低围产儿死亡率及出生缺陷儿出生的关键。
Objective: To explore the diagnosis of birth defects and improve the rate of prenatal diagnosis. Methods: A retrospective analysis was made on the prenatal diagnosis of 152 cases of birth defects from 13 weeks after birth to 7 days after delivery in the hospital from January to December in 2007. Results: The first 5 birth defects found in different gestational weeks were: <28 weeks were: multiple major deformities, chromosomal abnormalities, fetal tumors, nervous system deformities and visceral eversion of the splenic rupture; 28 weeks to: congenital heart disease (Congenital heart disease), multiple major deformities, cleft lip and palate, nervous system deformities, bone and urinary system deformities; ≥ 37 weeks: congenital heart disease, cleft lip and palate, urinary system deformities, skeletal system deformities, The diagnosis rate was 38.82%. The diagnosis of 20 cases of birth defects in autopsy was totally consistent with 8 cases, partly in 10 cases and 2 cases of missed diagnosis. Conclusions: Increasing the rate of prenatal diagnosis is the key to reducing perinatal mortality and birth defects.