Links between heat exposure and congenital anomalies have not been explored in detail despite animal data and other strands of evidence that indicate such links are likely. We reviewed articles on heat and congenital anomalies from PubMed and Web of Science, screening 14,880 titles and abstracts in duplicate for articles on environmental heat exposure during pregnancy and congenital anomalies. Thirteen studies were included. Most studies were in North America (8) or the Middle East (3). Methodological diversity was considerable, including in temperature measurement, gestational windows of exposure, and range of defects studied. Associations were detected between heat exposure and congenital cardiac anomalies in three of six studies, with point estimates highest for atrial septal defects. Two studies with null findings used self-reported temperature exposures. Hypospadias, congenital cataracts, renal agenesis/hypoplasia, spina bifida, and craniofacial defects were also linked with heat exposure. Effects generally increased with duration and intensity of heat exposure. However, some neural tube defects, gastroschisis, anopthalmia/microphthalmia and congenital hypothyroidism were less frequent at higher temperatures. While findings are heterogenous, the evidence raises important concerns about heat exposure and birth defects. Some heterogeneity may be explained by biases in reproductive epidemiology. Pooled analyses of heat impacts using registers of congenital anomalies are a high priority.

Background: In 2013, a pregnancy exposure registry and birth defects surveillance (PER/BDS) system was initiated in eThekwini District, KwaZulu-Natal (KZN), to assess the impact of antiretroviral treatment (ART) on birth outcomes.Objectives: At the end of the first year, we assessed the risk of major congenital malformations (CM) and other adverse birth outcomes (ABOs) detected at birth, in children born to women exposed to ART during pregnancy.Method: Data were collected from women who delivered at Prince Mshiyeni Memorial Hospital, Durban, from 07 October 2013 to 06 October 2014, using medicine exposure histories and birth outcomes from maternal interviews, clinical records and neonatal surface examination. Singleton births exposed to only one ART regimen were included in bivariable analysis for CM risk and multivariate risk analysis for ABO risk.Results: Data were collected from 10 417 women with 10 517 birth outcomes (4013 [38.5%] HIV-infected). Congenital malformations rates in births exposed to Efavirenz during the first trimester (T1) (RR 0.87 [95% CI 0.12–6.4; p = 0.895]) were similar to births not exposed to ART during T1. However, T1 exposure to Nevirapine was associated with the increased risk of CM (RR 9.28 [95% CI 2.3–37.9; p = 0.002]) when compared to the same group. Other ABOs were more frequent in the combination of HIV/ART-exposed births compared to HIV-unexposed births (29.9% vs. 26.0%, adjusted RR 1.23 [1.14–1.31; p 0.001]).Conclusion: No association between T1 use of EFV-based ART regimens and CM was observed. Associations between T1 NVP-based ART regimen and CM need further investigation. HIV- and ART-exposed infants had more ABOs compared to HIV-unexposed infants.

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Introduction In 2011, the American Academy of Paediatrics (AAP) published revised health supervision guidelines for children with Down syndrome (DS). In the absence of South African guidelines, we described the health supervision received by children with DS at a rural regional hospital in the Western Cape, South Africa compared with the AAP guidelines. Methods This was a 5-year retrospective description of the implementation of the 2011 AAP guidelines at the DS clinic at Worcester Provincial Hospital (WPH), specifically related to screening for and management of cardiac, thyroid, hearing and haematological disorders. Results Sixty-two children received care at WPH DS clinic during the study period. Thirty-six (58%) children lived in Worcester while 26 (42%) children were referred from peripheral hospitals. The median age at first clinic visit was 0.5 years [inter-quartile range (IQR) 0.2–1.2], a total of 177 person-years of follow-up with a median duration of 1.8 years (IQR 0.3–4.8). Two deaths occurred during the study period. Forty-nine (79%) children had a screening echocardiogram performed, the median age at first echocardiogram was 0.8 years (IQR 0.2–1.4). Five (14%) children from WPH compared with no children from the peripheral hospitals received the echocardiogram within the first month of life in keeping with AAP guidance (p = 0.06). Those requiring cardiac surgery were operated on at a median age of 2 years (IQR 0.9–2.3). Compared with the AAP guidelines, within the first month of life 17 (27%) children had a thyroid screen, 20 (32%) children had a full blood count and 7 (11%) children had a hearing assessment. Conclusion AAP guidelines for health supervision in DS are challenging to achieve within our local health system. The development and advocacy for a South African DS health supervision guideline that can be applied not only in specialist clinics might improve the care of children with DS.