Birth defects in Brazil: Outcomes of a population-based study

Abstract

Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1 st , 2011 and February 29 th , 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%; 95%CI: 4.0-12.0%). The majority of mothers with Down syndrome babies had advanced age. Family members with the same BD, maternal alcohol consumption, gestational diabetes, and previous miscarriages were the most frequent risk factors. The results were similar to published data from other countries except for the incidence of Down syndrome, which was twice as high as reported by other authors and is probably due to the high sociocultural level of the region where the current study was performed, leading to pregnancies at older maternal age.

Prevalência e fatores associados às malformações congênitas em nascidos vivos

“…(1,3) Em muitos países de baixa e média renda, as malformações congênitas não são consideradas uma prioridade de saúde pública e são percebidas pela comunidade médica como eventos raros e não evitáveis. (4) Definem-se malformações congênitas como alterações funcionais e estruturais no desenvolvimento embrionário ou fetal, resultantes de causas genéticas, ambientais ou desconhecidas, que podem ser identificadas no pré-natal, no nascimento, ou, às vezes, mais tarde na infância. (1,5,6) Em sua etiologia, encontram-se as infecções (citomegalovirose, rubéola e toxoplasmose), os fatores genéticos (hereditários), os ambientais (condições médicas maternas, abuso de substâncias, infecção, medicamentos, radiação, hipertermia, exposição a produtos químicos, poluição do ar, solventes, pesticidas, metais pesados e anormalidades uterinas).…”

“…(5,(8)(9)(10)(11) Recente estudo de caso-controle realizado no país, identificou uma incidência de 3,2% e apontou como principais fatores de risco a ocorrência de familiares com a mesma malformação congênita, consumo materno de álcool, diabetes gestacional e abortos prévios. (4) Igualmente, ao que foi observado em outros países, a pesquisa conduzida localmente, tem apontado a associação das malformações com a utilização de agrotóxicos. (12) Em adição aos fatores citados, a emergência nacional causada pelo Zika vírus associado à microcefalia aumentou a ocorrência de malformações no Brasil, (13) sendo Pernambuco considerado como o estado epicentro da epidemia, devido ao elevado número de casos.…”

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve

“…As the most prevalent type of human birth defect, congenital heart defect (CHD) occurs in about 1% of all live neonates, accounting for nearly a third of all forms of developmental abnormalities (Benjamin et al, 2019;Oliveira-Brancati et al, 2020). Although minor CHD may resolve spontaneously (Benjamin et al, 2019), serious CHD may lead to poor health-related quality of life (Amedro et al, 2018(Amedro et al, , 2019Boukovala et al, 2019), reduced exercise capacity (Müller et al, 2018;Abassi et al, 2019;Smith et al, 2019), abnormal nervous develop ment or brain injury (Peyvandi et al, 2018(Peyvandi et al, , 2019Khanna et al, 2019), hemorrhagic or ischemic stroke (Bokma et al, 2018;Giang et al, 2018;Pedersen et al, 2019), pulmonary hypertension (Brida and Gatzoulis, 2018;Dimopoulos et al, 2018;Kaemmerer et al, 2018;Pascall and Tulloh, 2018), acute kidney injury or renal dysfunction (Lui et al, 2017;Gist et al, 2018), infective endocarditis (Jortveit et al, 2018;Tutarel et al, 2018;Cahill et al, 2019), cardiac dysfunction or congestive heart failure (Gilbert et al, 2018;Lal et al, 2018;Sabanayagam et al, 2018;Chan et al, 2019), ventricular or supraventricular dysrhythmia (Labombarda et al, 2017;Barry et al, 2018;Hernández-Madrid et al, 2018;Fuchs et al, 2019), and death (Lynge et al, 2018;Yu C et al, 2018).…”

Analysis of Birth Defect Monitoring Data and Comparison of Prediction Models in Lanzhou, China

“…For those who survive early childhood with BDs, they can experience lifelong mental, physical, auditory, and visual disabilities that exact harsh human and economic tolls on them, their families, and their communities. Up to 70% of BDs could either be prevented, or with proper care, cured or ameliorated [23,24]. As the largest developing country in the world, a hospital-based surveillance system for monitoring BDs was established in China in 1986 [25].…”