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Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube.
Research has shown the lack of folic acid (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of these defects when they occur.
Failure of the rostral end of the neural tube to close results in anencephaly, or lack of brain development, and is most often fatal. [43] Failure of the caudal end of the neural tube to close causes a condition known as spina bifida, in which the spinal cord fails to close. [44]
Neurulation exposure to developmental toxicity is caused by the increased rate of cell proliferation and the ventral to dorsal migration of neuroepithelial cells. Epigenetic factors disrupt the normal process of the formation of the neural tube causing Neural Tube Defects (NTD). This leads to spina bifida, a common human defect. [10]
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. [2]
For a short time, the neural tube is open both cranially and caudally. These openings, called neuropores, close during the fourth week in humans. Improper closure of the neuropores can result in neural tube defects such as anencephaly or spina bifida. The dorsal part of the neural tube contains the alar plate, which is associated primarily with ...
Rachischisis is a neural tube defect characterised by a complete or severe defect in the spine. 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.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...