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
The foot appears medially rotated/deviated
What can talipes be associated with?
Aneuploidy - T18 Oligohydramnios NTD Connective tissue disorders - ehlers danlos and marfans 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?
Where there is a small posterior fossa and the brainstem, cerebellar vermis and tonsils herniate through the foramen magnum.
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.