Three large and comparable series of births were used to test the working hypothesis that if there is a real seasonal variation in the frequency of a given congenital malformation; it would have to be shown by adequate analysis; to be more overt in non-tropical areas; and to be six months out of phase in northern and southern hemispheres. The data set were hospital births from tropical (287,165 births) and non-tropical (582,585 births) South America, and from Italy (508,536 births). Sixteen well-defined malformation types were tested: anencephaly, spina bifida, cephalocoele, hydrocephaly, microtia, cleft palate, cleft lip, oesophageal atresia, anal atresia, hypospadias, pes equino-varus, pes talovalgus, postaxial polydactylyl, pre-axial polydactylyl, diaphragmatic hernia, and Down's syndrome. No seasonal variation was proven (p less than 0.01) for any malformation type in any of the three series of data by means of Walter and Elwood's test, or Hewitt et al's non-parametric test2 applied to seven instances with sample sizes smaller than 50 cases. Variations of borderline significance (p less than 0.05) included oesophageal atresia in tropical South America, none in non-tropical South America, and anencephaly in Italy. It is concluded that seasonal variation in the occurrence of congenital malformations is a rare phenomenon when tests are strictly used within their recommended limitations.

BackgroundThe contribution of birth defects, including cleft lip and palate, to neonatal and infant mortality and morbidity is substantial. As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally.Methods/DesignWe are using cleft lip and palate as a sentinel birth defect to evaluate its burden on neonatal and infant health and to assess the effectiveness of systematic pediatric care during the first month and first two years of life in decreasing this burden. The neonatal intervention, consisting of weekly pediatric evaluation and referral to appropriate care, is delivered to about 696 infants born with cleft lip and/or palate in 47 hospitals in South America. Neonatal mortality in this group will be compared to that in a retrospective control group of about 464 infants born with cleft lip and/or palate in the same hospitals. The subgroup of infants with isolated clefts of both the lip and palate (about 264) is also randomized into two groups, intervened and non-intervened, and further followed up over 2 years. Intervened cases are evaluated by pediatricians every three months and referred for appropriate care. The intervened and non-intervened cases will be compared over study outcomes to evaluate the intervention effectiveness. Non-intervened cases are matched and compared to healthy controls to assess the burden of cleft lip and palate. Outcomes include child's neurological and physical development and family social and economic conditions.DiscussionLarge-scale clinical trials to improve infant health in developing countries are commonly suggested, making it important to share the methods used in ongoing studies with other investigators implementing similar research. We describe here the content of our ongoing pediatric care study in South America. We hope that this may help researchers targeting this area to plan their studies more effectively and encourage the development of similar research efforts to target other birth defects or infant outcomes such as prematurity and low birth weight.

BackgroundCleft lip and/or palate (CL/P) increase mortality and morbidity risks for affected infants especially in less developed countries. This study aimed at assessing the effects of systematic pediatric care on neonatal mortality and hospitalizations of infants with cleft lip and/or palate (CL/P) in South America.MethodsThe intervention group included live-born infants with isolated or associated CL/P in 47 hospitals between 2003 and 2005. The control group included live-born infants with CL/P between 2001 and 2002 in the same hospitals. The intervention group received systematic pediatric care between the 7th and 28th day of life. The primary outcomes were mortality between the 7th and 28th day of life and hospitalization days in this period among survivors adjusted for relevant baseline covariates.ResultsThere were no significant mortality differences between the intervention and control groups. However, surviving infants with associated CL/P in the intervention group had fewer hospitalization days by about six days compared to the associated control group.ConclusionsEarly systematic pediatric care may significantly reduce neonatal hospitalizations of infants with CL/P and additional birth defects in South America. Given the large healthcare and financial burden of CL/P on affected families and the relatively low cost of systematic pediatric care, improving access to such care may be a cost-effective public policy intervention.Trial RegistrationClinicalTrials.gov: NCT00097149

We present descriptive epidemiologic data on ambiguous genitalia (AG), obtained in the period 1967-1982 by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) through 70 participating hospitals located in 34 cities of 9 South American countries. The observed prevalence rate for isolated AG was about 1/20,000 births, with at least 1/4 and probably as much as 1/2 due to congenital adrenal hyperplasia. When AG cases associated with other congenital anomalies were also considered, the overall frequency of AG was 1/6,900 total births (1/10,000 for live and 1/350 for stillbirths). The prevalence rates were homogeneously distributed among the different countries, and there was a stable secular trend. AG was more frequent in nontropical than in tropical areas of South America, and there was a significant seasonal variation with its acrophase in August (winter). A case-control analysis of 14 risk factors showed an association of AG with a prenatal history of acute maternal illnesses. These data do not support an etiological relationship between AG and hypospadias.

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