Prevalences at birth are around 80% of total diagnosed prevalences, with the exception of the subgroup of nervous system anomalies, for which the prevalence at birth (0.9‰) is one-third of the total diagnosed one.
However, studies with sufficient statistical power should also focus on other anomalies for which there may be an environmental etiology (e.g., neural tube defects, limb defects, gastroschisis) (EUROCAT 2004).
Regarding the outcomes, the focus of future studies should be on subcategories of congenital anomalies, rather than on the whole group, and should focus on anomalies for which the ascertainment is reasonably complete and consistent if registry-based designs are used.
The review also calls for studies that focus on specific congenital anomalies for which there is likely to be complete case diagnosis and reporting, in addition to case control studies that follow up on possible associations with ventricular septal defects, which are particularly prone to under‐reporting in registry‐based studies.
Using array comparative genomic hybridization (aCGH) to study large kindreds with autosomal dominant forms of brachydactyly (digital anomalies) for which the causative gene, BMP2, is already known, Dr Klopocki was able to identify duplications that affect regulatory elements located outside the affected gene.
We conducted meta-analyses for 18 combinations of pollutants and cardiac anomaly groups for which four or more studies published results [for summary results, see Table 2; for full results, see Supplemental Material, Table 2 (doi:10.1289/ehp.1002946)].
Indications for CMA testing included developmental delay/intellectual disability and congenital anomalies; only cases for which clinical follow-up occurred at SickKids were included.
Then, genetic analysis of patients, who were diagnosed as CSA and MDS without chromosomal anomaly, was performed in cases for which genome sample was available (third investigation).
Disease risk was predicted using the WSSTA (weekly SST anomaly) metric, which counted the number of weeks during the previous one-year period for which the temperature anomaly was at or above +1°C.
