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Neural Tube and Ventral Wall Defects

Introduction

Trisomy 21 - Down Syndrome

Trisomy 18, Edward Syndrome

Trisomy 13, Patau Syndrome

Neural Tube and Ventral Wall Defects

William's Syndrome

Turner's Syndrome

Cri Du Chat Syndrome

Neural Tube Defects  occur about 1 in every 1500 pregnancies.  There are three main forms of neural tube defect; anencephaly, hydrocephaly and spina bifida. This anomaly can be detected in the Triple Test

• Anencephaly is the incomplete formation of the brain and skull.  This can be partial or complete (meaning that the entire head and brain can be missing).  This defect always results in death during pregnancy, or just after the birth.

• Hydrocephaly is when too much spinal fluid is in the brain.  This can sometimes be treated depending on the severity and is often associated with mental retardation.

• Spina bifida is the incomplete formation of the back bone and/or spinal cord.  Again, the severity is the key to how much this problem affects the child.  If there is a problem with the bone formation but the underlying spinal cord and skin is intact, then a relatively normal life can be achieved.  If there is an underlying abnormality in the spinal cord, then many varying problems with paralysis, bladder/bowl control, and sometime mental retardation can occur.

The actual cause of neural tube defects is still unproven, however many studies show that it may be linked to mineral and vitamin deficiencies in the mother.  It has been shown that the incidences of NTDs are greatly reduced by the mother taking extra 'Folic Acid' vitamin supplements and minerals before conception and during the first eight weeks of pregnancy.  Some countries do not recognise these studies yet but the evidence is becoming overwhelming.

See this article for further information on Folic Acid.

Ventral Wall Defects (or Abdominal Wall Defects) come in two main forms, Omphalocele and gastroschisis.  This again can be detected (about 75%) by use of the Triple Test.

• Omphalocele is when the intestines and sometimes other vital organs develop outside of the body.  50% of these cases have other organ defects also.

• Gastroschisis is when the intestines and sometimes other organs only partially protrude through a defect in the abdomen wall.  Depending on the severity, this can sometimes be successfully operated on after birth. 

The following sites may be useful:

http://www.asbah.org/

http://www.sbaa.org/

http://www.spinabifida.net/

Introduction

Trisomy 21 - Down Syndrome

Trisomy 18, Edward Syndrome

Trisomy 13, Patau Syndrome

Neural Tube and Ventral Wall Defects

William's Syndrome

Turner's Syndrome

Cri Du Chat Syndrome

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