Spina Bifida An Overview Dr Margo Whiteford CBE
Spina Bifida – An Overview Dr Margo Whiteford CBE Consultant Clinical Geneticist Queen Elizabeth University Hospital, Glasgow
Spina Bifida – An Overview Dr Margo Whiteford CBE Consultant Clinical Geneticist (Retired!) Queen Elizabeth University Hospital, Glasgow
• Chairperson – Spina Bifida Hydrocephalus Scotland • Person with Spina Bifida
Spina Bifida • Failure of closure of neural tube • 4 -6 weeks of pregnancy • Any part of neural tube may be involved
Types of neural tube defects • Anencephaly • Meningocoele • Myelomeningocoele • Spina bifida occulta
Alpha-fetoprotein 15 -16 weeks
Ultrasound Scan 18 -20 weeks
Impact on Family Life • Parental Anxiety – Health – Education – Recurrence • • Siblings Mobility Housing Adaptations Financial Implications
• General Population 1: 1000 • Parent of child with spina bifida 1: 25 • Adult with spina bifida 1: 25 • Two first degree relatives 1: 10
Genetic Factors
Nongenetic Factors
The Folic Acid Story • Dietary factors recognised 1970’s • Folate (vitamin B 9) required for new cell formation • MRC Trial 1991
The Folic Acid Story • • • Dietary factors recognised 1970’s Folate (vitamin B 9) required for new cell formation MRC Trial 1991 Must be taken pre-conception Now recommended for the general population (0. 4 mg) 4 mg if : - previously affected child/pregnancy affected by spina bifida
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