Talipes And Spina Bifida Flashcards
What is the incidence of talipes?
1:1000
What is the USS appearance of talipes?
Sole of foot is not perpendicular to the lower leg bones?
What can talipes be associated with?
Aneuploidy - T18, T13
Oligohydramnios
NTD
Skeletal and neuromuscular abnormalities
50% is isolated
What is the prognosis of talipes?
90% good long-term function by manipulation and serial application of casts
10% need surgery
3% need more than one surgery
What is the recurrence rate of talipes?
One sibling affected = 3%
Parent and one sibling affected = 25%
What is the incidence of spina bifida?
1:1000
Taking folic acid reduces incidence of spina bifida by what %
70%
What are risk factors for NTD
Personal / family history
Reduced folate absorption - insulin, anticonvulsants, infertility treatment, Vitamin A
Diabetes
Obesity
Increased body temperature in first few weeks of pregnancy - fever, hot tub
What are the three types of spina bifida?
Spina bifida occulta
Spina bifida meningocoele
Spina bifida myelomeningocoele
What is a Chairi malformation?
Brain stem is elongated and positioned lower than usual
Can cause problems with breathing and swallowing
What is the management of spina bifida myelomeningocoele
Antenatal
- referral to MFM, review and detailed USS
- karyotype testing
- offer TOP or continuation of pregnancy
- counselling with NICU
- USS every 4 weeks to assess for ventriculomegaly, kyphoscoliosis, talipes
Intrapartum
- El LSCS to minimise damage to spinal cord (not required for spina bifida occulta)
Postpartum
- Keep sac outside the body moist
- antibiotics to reduce risk of meningitis
- cranial USS, CT, MRI, kidney function tests
- if hydrocephalus, VP shunt
- surgery to close defect within 24-48 hours
- physiotherapist
- may need urinary catheter
What are USS findings of spina bifida
Myelomeningocoele Arnold Chiari malformation Hydrocephalus Lemon sign: frontal bone scalloping Banana sign: obliteration of cisterns Magna with either absent cerebellum or abnormal anterior curvature of the cerebellar hemispheres
Talipes
What is the prognosis of spina bifida?
25% stillborn
5 year mortality rate 35%
20% die in first year of life
What is the recurrence rate of NTD
Affected parent OR one sibling: 4%
Two affected siblings: 10%
What maternal blood test can help detect spina bifida?
What is the sensitivity?
Maternal serum alpha fetoprotein taken 16-18 weeks.
Abnormal >2 MoM.
Detects 80% of open NTDs and 90% of anencephaly.