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【目的】通过调查分析湖南省围产儿出生缺陷发生现状及诊断情况，探讨相关有效可行的预防措施。【方法】回顾性分析湖南省52家出生缺陷监测医院2012年10月至2013年9月出生的妊娠满28周至出生后7d的围产儿出生缺陷监测结果，统计分析出生缺陷发生率、出生缺陷分娩前后诊断情况及主要出生缺陷发生情况。【结果】湖南省出生缺陷发生率189．6／万；出生缺陷发生率高的前五位为先天性心脏病、多指（趾）、外耳其他畸形、肾脏畸形、马蹄内翻足；出生缺陷的产前诊断率为38．19％，不同出生缺陷产前及产后诊断率不同。【结论】应不断加强产前诊断技术服务，提高出生缺陷诊断和筛查能力，加强婚前、孕前、孕期保健，努力提高出生缺陷的诊断及筛查水平。“,”[Objective] To explore the perinatal birth defects and diagnostic status in Hunan Province .[Methods] Retrospective analysis was conducted for the clinical data of perinatal infants from 28‐week preg‐nancy to 7 days post‐delivery at 52 hospitals in Hunan .[Results] The incidence rate of birth defects was 189 . 61/10 ,000 .The top five birth defects were congenital heart disease ,finger/toe polydactyly ,other auricular deformities ,clubfoot foot ,cleft lip and cleft palate .The prenatal diagnostic rate of birth defects was 38 .19% . Different birth defects had different rates of prenatal diagnosis .[Conclusion] The services of prenatal diagnos‐tic technology services should be further strengthened so as to improve the capacities of diagnosing and screen‐ing birth defects through pre‐marital health ,pregnancy and prenatal cares .