Bidondo Maria Paz, Groisman Boris, Duarte Santiago, Tardivo Agostina, Liascovich Rosa, Barbero Pablo
National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health and Social Development, Av. Las Heras 2670, C1425ASP, Buenos Aires, Argentina.
Department of Cellular Biology, Histology, Embryology and Genetics, Medicine College, University of Buenos Aires (UBA), Buenos Aires, Argentina.
J Community Genet. 2020 Jul;11(3):313-320. doi: 10.1007/s12687-019-00451-6. Epub 2020 Jan 3.
Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Sources were reports of RENAC from the 2013-2016 period. Congenital anomalies included were those detectable by ultrasound or by a prenatal karyotype. PDR was calculated by region, health subsector, clinical presentation, maternal age, sex, and twining. Using multiple logistic regression analysis, we evaluated predictors of prenatal detection. In total, 9976 cases were defined as prenatal detectable; 5021 were detected (PDR = 50.3%). Multiple presentation increased the chances of prenatal detection (Adj. OR = 1.6; 95%CI 1.4-1.9). Prenatal detection was lower in the public subsector (Adj. OR = 0.8; 95%CI 0.7-0.9) and in the northern regions of the country. PDR was higher than 75% in isolated cases of urinary malformation, anencephaly, and gastroschisis. Prenatal detection increased the chance of birth in higher complexity-level hospitals (Adj. OR = 2.5; 95%CI 2.3-2.8). PDR was within the range previously reported. Heterogeneity between regions and health subsector suggests the need for training to achieve equity in detection.
先天性异常(CAs)是新生儿死亡的主要原因。许多先天性异常可在产前诊断。为了估计参与阿根廷先天性异常国家网络(RENAC)的医院中先天性异常的产前检测率(PDR),并根据不同因素分析产前检测率。资料来源为RENAC 2013 - 2016年期间的报告。纳入的先天性异常包括可通过超声或产前核型检测到的异常。产前检测率按地区、卫生子部门、临床表现、产妇年龄、性别和双胎情况进行计算。我们使用多元逻辑回归分析评估产前检测的预测因素。总共9976例病例被定义为可产前检测;5021例被检测到(产前检测率 = 50.3%)。多种临床表现增加了产前检测的机会(调整后比值比 = 1.6;95%置信区间1.4 - 1.9)。公共卫生子部门(调整后比值比 = 0.8;95%置信区间0.7 - 0.9)和该国北部地区的产前检测率较低。孤立性泌尿系统畸形、无脑儿和腹裂的产前检测率高于75%。产前检测增加了在复杂性更高的医院出生的机会(调整后比值比 = 2.5;95%置信区间2.3 - 2.8)。产前检测率在先前报告的范围内。地区和卫生子部门之间的异质性表明需要进行培训以实现检测的公平性。