4. What is the embryological basis for most NTDs? Can they be diagnosed prenatally? Are there...

4. What is the embryological basis for most NTDs? Can they be diagnosed prenatally? Are there any means of prevention?

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Expert Solution

Neural tube defects are the defects in the neural tube that takes place during embryonic development due to the failure of the closure of the tube.

The common neural tube defects includes

Anencephaly
Encephaloceles
Hydranencephaly
Iniencephaly
Spina bifida

The neural tube defects occurs due to the defect in the neurulation process of embryogenesis.These occurs between the third and fourth week of embryologic development.The failure in the closure of the posterior neuropore results in spina bifida.

This can be due to.

folate deficiency
Multifactorial inheritance
Single-gene (autosomal recessive) disorders
Chromosomal aneuploidy
Teratogens like Valproic acid,Thalidomide etc
Sacrococcygeal teratoma
Maternal insulin-dependent diabetes mellitus

These NTD can be diagnosed by ultrasound and MSAFP screening

using USG can visualize the lesion of the neural tube.
The elevated MSAFP levels,indicates the higher risk.

The prevention of the NTD can be done by

Folic acid supplementation beginning from the first 4 weeks of pregnancy.The folate promotes the proper neurulation process and prevents the defects.

Sydney Mullin answered 8 months ago

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