neural tube defect
Congenital malformation resulting from incomplete closure of the neural tube during early embryonic development.
Full Definition
A group of birth defects affecting the brain, spine, or spinal cord that occur when the neural tube fails to close properly between days 21-28 of embryonic development. Common types include spina bifida (affecting the spine), anencephaly (absence of brain tissue), and encephalocele (brain tissue protrusion). Risk factors include inadequate maternal folic acid, family history, certain medications, and maternal diabetes. Prevention involves preconceptional folic acid supplementation, and screening includes maternal serum alpha-fetoprotein testing and detailed ultrasound examination. Severity ranges from minor spinal defects to conditions incompatible with life.
Usage
Usage note: Specify the type and severity when documenting these defects.
In Context
- "Detailed ultrasound revealed a neural tube defect requiring pediatric neurosurgery consultation." — Maternal-fetal medicine consultation
- "Elevated MSAFP prompted further evaluation for possible neural tube defect." — Genetic screening follow-up