Birth defects in newborns and stillborns: an example of the Brazilian reality

Abstract

BackgroundThis 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.MethodsFor 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.ResultThe 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.ConclusionsThe 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.

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

“…Although the incidence of BDs around the world is variable, most studies report 3-5% in different populations (Oliveira et al, 2011). The incidence in this study (3.2%) corroborates previously described data despite the differences in diagnostic levels, sample sizes, and methodologies of other studies performed both in Brazil (1.4-5%) and other countries (Oliveira et al, 2011;Gill et al, 2012;Naim et al, 2013). The incidence of BDs was slightly higher in males than in females as has previously been reported (Asindi et al, 1997).…”

“…They contribute to 50% of neonatal deaths, besides being a leading cause of infant mortality and lifelong disabilities (Gill et al, 2012;Arioglu Aydin et al, 2015). About eight million babies worldwide are born each year with significant BDs (Reece, 2012); the overall incidence is approximately 3-5% (Oliveira et al, 2011;Gill et al, 2012). Although there are well-established risk factors, the causes of most BDs remain unknown (Miller et al, 2011;Kong et al, 2012;Wiener-Megnazi et al, 2012;Ooki, 2013).…”

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study

“…Birth defects are defined as structural, functional, behavioral, and metabolic defects that develop during the organogenesis period and present at birth or detected later in life [ 2 ]. Birth defects (BDs) can be caused by genetic, chromosomal, environmental, and multifactoral effects, as well as micronutrient deficiencies or unknown etiological agents [ 6 , 7 ].…”

Analysis of frequency of congenital fetal anomalies diagnosed on antenatal ultrasound in a tertiary care hospital of Balochistan

“…13 Another study that was done in Saudi Arabia showed that the CNS anomalies are the most occurring anomaly followed by musculoskeletal and then renal system anomalies. 14 One study that was done in Brazil showed that the congenital anomalies are more prevalent in male as compared to female (59% male newborn and 41% in female newborn). 15 Fetal wellbeing monitoring is necessary to assess the status of fetus.…”