Laboratorio de Epidemiología Genética, Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas y Técnicas (CEMIC-CONICET), Ciudad Autónoma de Buenos Aires, Argentina.
Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas y Técnicas (CEMIC-CONICET), Ciudad Autónoma de Buenos Aires, Argentina.
Am J Perinatol. 2023 Oct;40(13):1406-1412. doi: 10.1055/s-0041-1735867. Epub 2021 Oct 11.
This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity.
Live born infants ( = 16,452) with isolated BDs classified by severity, and 42,511 healthy controls were assigned to categories: adequate growth, preterm, or small for gestational age (SGA). Proportion of cases and BDs' lethality rates were obtained by category and compared with controls.
Overall fewer malformed than nonmalformed infants were of adequate growth, while the opposite occurred in the preterm and SGA categories where gastroschisis and esophageal atresia were among the most outstanding defects. For most severe BDs, the early neonatal death rate was higher than control values in all categories; for mild defects, except cleft lip in the preterm category, they did not differ. Diaphragmatic hernia showed the highest lethality values, while those of spina bifida were among the lowest. Talipes, hypospadias, and septal heart defects were mild defects significantly associated with prematurity.
Although reasons, such as induced preterm delivery of fetuses with certain anomalies, could partially account for their high prematurity rates, susceptibility to preterm birth might exist through underlying mechanisms related with the defects. The identification of BDs associated with prematurity should serve to improve measures that prevent preterm birth especially of fetuses at risk.
· Some BDs predispose to prematurity.. · Prematurity is an additional risk factor for mortality in infants with mild defects.. · Lethality values should be adjusted by gestational age and birth weight..
本研究旨在描述按胎龄和出生体重分类的新生儿出生缺陷（BDs）的致死率，并确定与早产相关的 BDs。
将 16452 例患有孤立性 BDs 的活产婴儿（ = ）按严重程度分类，并将 42511 名健康对照分配到以下类别：生长良好、早产或小于胎龄（SGA）。通过类别获得病例比例和 BDs 的致死率，并与对照组进行比较。
总体而言，与非畸形儿相比，生长良好的畸形儿较少，而在早产和 SGA 类别中则相反，其中腹裂和食管闭锁是最突出的缺陷。对于大多数严重的 BDs，所有类别中的早期新生儿死亡率均高于对照值；对于轻度缺陷，除了早产类别中的唇裂外，差异不显著。膈疝的致死率最高，而脊柱裂的致死率最低。马蹄内翻足、尿道下裂和室间隔缺损是与早产显著相关的轻度缺陷。
尽管某些异常胎儿的诱导性早产等原因可能部分解释了它们的早产率较高，但可能存在与缺陷相关的潜在机制导致早产易感性。识别与早产相关的 BDs 应有助于改善预防尤其是高危胎儿早产的措施。
· 一些 BDs 易导致早产。· 对于轻度缺陷的婴儿，早产是死亡的另一个危险因素。· 致死率应按胎龄和出生体重调整。
