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Diagnosis of Myelomeningocele

Medically Reviewed by Dr. Sunil Shroff, MBBS, MS, FRCS (UK), D. Urol (Lond) on Feb 12, 2016


Diagnosis

Diagnosis of myelomeningocele can be done by routine prenatal screening of the would be mother. by doing fetal ultrasonography. It can be detected by an experienced Ultra-Sonologist at 20-22 weeks of gestation.


It can be also be suspected if the mother's serum levels of protein called �-fetoprotein (AFP) is high. This can be measured in the second trimester at 15-18 weeks of gestation.

Amniocentesis is done by withdrawing some amniotic fluid from the womb and studyjng the foetal tissue.

A blood test called the quadruple screen may be done during the second trimester of pregnancy.

Myelomeningocele is visible after birth. Neurological examination of the child may reveal deficits. Imaging modalities like x-rays, ultrasound, CT, or MRI of the spinal area are also employed.

References:

  1. Nelson Textbook of Pediatrics. 18th ed.
  2. The Merck Manual
  3. Cohen AR, Robinson S: Myelomeningocele and myelocystocele. In Youmans Neurological surgery. Volume 2. 5th edition. Edited by Winn HR. Philadelphia: Saunders; 2003:3215-3228.
  4. Aubry MC, Aubry JP, Dommergues M: Sonographic prenatal diagnosis of central nervous system abnormalities.
  5. Child Nerv Syst 2003, 19:391-402. Publisher Full Text
  6. Boyd PA, Wellesley DG, De Walle HEK, Tenconi R, Garcia-Minaur S, Zandwijken GR, Stoll C, Clementi M: Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centers across Europe. J of Medical Screening 2000, 7:169-174. Publisher Full Text

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