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Abstract Background There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. Methods We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). Results The frequency of congential anomalies were compared between index cases and controls. No significant differences were found. Conclusions Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

We thank Compute Canada for the Research Allocation Competitions allocation, which facilitated our analysis of the IMAG INE and EGA genomes, and Julia Handra for coordinating the STR molecular testing of the clinical samples. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions. [Extracted from the article]