Oliveira Camila Ive Ferreira, Richieri-Costa Antonio, Carvalho Ferrarese Valéria Cristina, Móz Vaz Denise Cristina, Fett-Conte Agnes Cristina
Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brasil.
BMC Res Notes. 2011 Sep 9;4:343. doi: 10.1186/1756-0500-4-343.
This study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects.
For all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases.
The incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death.
The current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments.
本研究是对巴西一所医学院附属医院一年内收治的所有患有出生缺陷的新生儿和死产儿进行的临床和遗传学研究。本研究的目的是估计出生缺陷的发生率、病因及后果。
除了对特定病例进行核型分析或分子检测外，我们还对所有婴儿进行了体格检查、拍照记录、病历分析以及与家属收集额外信息。
出生缺陷的发生率为2.8%。其中，73.6%（95%置信区间：64.4 - 81.6%）的病例病因得以明确。涉及单一遗传因素或与环境因素相关的病因（94.5%，95%置信区间：88.5 - 98.0%）比仅由环境因素（酒精中毒和妊娠期糖尿病）导致的病因更为常见。85%的病例能够做出确定性或推测性诊断。其中，孤立性先天性心脏病（9.5%）和唐氏综合征（9.5%）最为常见，其次是腹裂（8.4%）、神经管缺陷（7.4%）和马蹄内翻足（5.3%）。产妇年龄、父母近亲结婚、接触致畸剂和家族易感性是一些已确定的危险因素。最常见的后果是住院时间延长和死亡。
我们人群中新生儿和死产儿的出生缺陷发生率与巴西和其他欠发达国家的其他研究结果相似。出生缺陷是导致潜在生命年损失的主要原因之一。欠发达国家对出生缺陷的研究应继续进行。确定发生率、危险因素和后果对于规划预防措施和有效治疗至关重要。
