1970’s Smithhells noted erythrocyte folate and low a. acid in WBC in first trimester pregnancies with NTD. This work led to two important randomize studies on the use of periconception folate by British and Hungarians.
British study was terminated early due to the protection noted in the folic acid group. Multivitamins has no protective effect. Preconception Folic Acid prevented 72% of recurrent NTD.
Ingestion of preconception F. Acid is not easy (less than 50% of pregnancies are planned).
Folic Acid is not protective unless ingested in periconception period.
NTD occurs 26 days post-fertilization – when many woman don’t know they are pregnant.
The precise mechanism of F. Acid protection is unclear.
Normal Folate Adequate Folate – Healthy Cells Deficient Folate – Unhealthy Cells Perspective on Folate Deficiency Megaloblastic Anemia
50% of U.S. pregnancies are unplanned Folic acid is needed before conception NTDs occur very early in pregnancy Importance of timing in getting folic acid
Median serum and red blood cell folate levels, before and after folic acid fortification, U.S. women, aged 15-44 years, NHANES SOURCE: CDC/NCHS, National Health and Nutrition Examination Surveys, 1988-94 and 1999-2000 4.8 0 5 10 15 20 ng/mL Serum folate 13.0 Before After ng/mL 159.9 263.6 0 50 100 150 200 250 300 350 Red blood cell folate Before After
Diagnostic Detection and Associated Neurological Lesions.
Alpha-Feto-Protein _ Amniotic Fluid or maternal blood stream. *Major serum protein in early embryonic life and is 90% of serum globulin. It’s believe to prevent fetal immune rejection.
Can leak from NTD in to a. fluid.
Prenatal screen 15-20 weeks (at 20 weeks higher than 1000 ng/ml is indicative of NTD.
Ultrasound in 98% reliable in skill hands. (Close defects can be undetected).
Lypomyelomeningocele The left child is a dorsal lipoma – pedunculated. The right child lypomatous mass beneath the skin. Both passed through the dura to the intradural space.
Spinal cord (close up) location of spina bifida Occulta Outer part of vertebrae not completely joined. Spinal cord and covering (meninges) usually undamaged. Hair often at site of defect. Meningocele Outer part of vertebrae split. Spinal cord usually normal. Meninges damaged and displaced through opening. Myelomeningocele Outer part of vertebrae split. Spinal cord and meninges damaged and displaced through opening. Usually hydrocephalus.
Anomalies Associated with Myelomeningocele Approximate Percent of Patients Chiari II malformation 90%+ Hydrocephalus 90%+ Syringomyelia 88% Brainstem malformations (cranial nerve) 75% Cerebral ventricle abnormalities 90%+ Cerebellar heterotopias 40% Cerebral heterotopias 40% Agenesis of the corpus callosum 12% Polymicrogyria 15-30%
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