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Upper and lower neural tube defects: an alternate hypothesis
1Centre for Human Genetics, McGill University, Montreal, Quebec, Canada.
Journal of Medical Genetics
|October 1, 1993
Summary
This study investigated if upper and lower neural tube defects (NTDs) have different causes. Findings suggest they share similar pathogenesis, with embryos being more vulnerable during early neural tube formation.
Area of Science:
- Medical Genetics
- Developmental Biology
- Public Health
Background:
- Neural tube defects (NTDs) are congenital abnormalities with varying types, including upper (anencephaly, encephalocele, thoracic spina bifida) and lower (lumbosacral spina bifida).
- Previous hypotheses suggested distinct pathogenetic mechanisms for upper and lower NTDs based on concordance, recurrence, and associated malformations.
Purpose of the Study:
- To test the hypothesis of different pathogenetic mechanisms for upper versus lower NTDs.
- To analyze concordance, recurrence rates, spontaneous abortion, additional malformations, and sex distribution in upper and lower NTD cases.
Main Methods:
- Retrospective analysis of NTD cases in a Quebec sample.
- Comparison of NTD type concordance in sib pairs.
- Evaluation of recurrence rates, spontaneous abortion, and malformation data between upper and lower NTD groups.
Main Results:
- Observed less than full concordance (50%) for NTD type in sib pairs.
- Found no significant difference in recurrence rates between lower (5.6%) and upper (5.8%) NTD groups.
- Results generally aligned with prior studies, with variations possibly due to differing population incidences.
Conclusions:
- The findings support a shared pathogenesis for upper and lower NTDs.
- Embryonic susceptibility during early neural tube formation may explain observed differences.
- This suggests a unified approach to understanding and potentially preventing NTDs.