Genetic epidemiology of neural tube defects.
Philip J Lupo, A J Agopian, Heidi Castillo and 9 others
PMID 29125517WHAT IT FOUND
Family history raises risk of spina bifida and anencephaly, and folic acid fortification reduces births with these defects, but few causative genes have been identified.
Large modern genetic studies are still lacking.
Key findings
01Having a family history of spina bifida or anencephaly is one of the strongest risk factors for these outcomes.
02Folic acid fortification in the United States led to a 28% reduction in the birth of infants with anencephaly and spina bifida since mandatory fortification began in 1998.
03At the time of this review, no published genome-wide association study of neural tube defects had been reported.
STILL TO COME
How it was doneWhat they found
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What it does not show
This is a narrative review, not a new study, so it does not test a treatment or measure patient outcomes. It focuses on genetic epidemiology, so it does not report therapy techniques or functional outcomes for spina bifida care. It describes literature available when the review was written, so newer genetic findings are not included.
The easy way to misread this
Do not conclude that specific genes can explain most neural tube defects. The review states that few causative genes have been identified and that genome-wide and sequencing studies were not yet available.