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Encephalocele is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development.
An elevated MSAFP measured at 16–18 weeks gestation is a good predictor of open neural tube defects, however the test has a very high false positive rate, (2% of all women tested in Ontario, Canada between 1993 and 2000 tested positive without having an open neural tube defect, although 5% is the commonly quoted result worldwide) and only a ...
Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication, should take a higher dose of 4–5 mg/day. [69] However, the daily requirement of folate and the recommended folate blood levels to prevent neural tube defects are not well established. [59]
0.15%: −13.4 Maternal and neonatal disorders ... Neural tube defects: 0.9: 0.12%: −16.5 ... Injuries and violence are "the leading causes of death among children ...
Many individuals remain at a 3–5 month developmental level. Life expectancy is short and many children with lissencephaly will die before the age of 10. Some children with lissencephaly will be able to roll over, sit, reach for objects, and smile socially. Aspiration and respiratory disease are the most common causes of illness or death. [27]
The exact cause(s) of HPE are yet to be determined. Mutations in the gene encoding the SHH protein, which is involved in the development of the central nervous system (CNS), can cause holoprosencephaly. [8] [9] [10] In other cases, it often seems that there is no specific cause at all. [11]
The defect can be located anywhere from the cervical region to the sacrum, or through the entire length of the spine. Typical defects are clefts or splits that open the spine to the exterior environment. Rachischisis occurs around 3–4 weeks after conception when the posterior neuropore of the neural tube does not close completely. It is a ...
A woman who has had one child with a neural tube defect such as anencephaly has about a 3% risk of having another child with a neural tube defect, [12] as opposed to the background rate of 0.1% occurrence in the population at large. [13] Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect ...