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Neural tube defects (NTD) are a type of birth defect involving openings along the brain and spine. They develop in the early embryonic period when the neural tube fails to completely close. NTD can vary widely in severity. Anencephaly represents the most severe end of the spectrum and occurs when the cranial end fails to form, resulting in an absence of the forebrain, the area of the skull that covers the brain, and the skin. Most infants with anencephaly are stillborn or die shortly after birth. NTD along the spine are referred to as spina bifida. Individuals with spina bifida may experience hydrocephalus, urinary and bowel dysfunction, club foot, lower body weakness, and loss of feeling or paralysis. Severity varies depending upon whether the NTD is covered by skin, whether herniation of the meninges and spinal cord are present, and the location of the lesion. NTD not covered by skin are referred to as open NTD and are typically more severe than closed NTD. Likewise those presenting with herniation and higher on the spinal column are typically more severe.
Most NTD occur as isolated birth defects with an incidence of approximately 1 in 1,000 to 2 in 1,000 live births in the United States. Rates vary by geographic region with lower rates being observed in the North and West than the South and East. A fetus is at higher risk when the pregnancy is complicated by maternal diabetes, exposed to certain anticonvulsants, or there is a family history of NTD. Studies have shown a dramatic decrease in risk as a result of maternal dietary supplementation with folic acid. The March of Dimes currently recommends that all women of childbearing age take 400 micrograms of folic acid daily, increasing the amount to 600 mg/day during pregnancy. For women who have had a prior pregnancy affected by an NTD, the recommended dose is at least 4,000 mg/day starting at least 1 month preconception and continuing through the first trimester.
When an NTD is suspected based upon maternal serum alpha-fetoprotein (AFP) screening results or diagnosed via ultrasound, analysis of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) in amniotic fluid are useful diagnostic tools. AChE is primarily active in the central nervous system with small amounts of enzyme found in erythrocytes, skeletal muscle, and fetal serum. Normal amniotic fluid does not contain AChE, unless contributed by the fetus as a result of an open NTD.
Diagnosing open neural tube defects, and to a lesser degree, ventral wall defects
The presence of acetylcholinesterase in amniotic fluid is consistent with open neural tube defects and, to a lesser degree, ventral wall defects.
False-positive acetylcholinesterase (AChE) results may occur when blood is present in the amniotic fluid specimen.
Negative (reported as negative [normal] or positive [abnormal] for inhibitable acetylcholinesterase)
Reference values were established in conjunction with alpha-fetoprotein testing and include only amniotic fluids from pregnancies between 14 and 21 weeks gestation.
Wilson RD, Audibert F, Brock JA, et al: Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can 2014 Oct;36(10):927-939