Congenital Anomalies

Question 1

What is the most common CNS Malformation

Answer 1

NTD

Question 2

Incidence of NTD

Answer 2

4/1000

Question 3

Risk of NTD in subsequent pregnancy increase by

Answer 3

2x

Question 4

Risk factors for NTD

Answer 4

Folic acid deficiency of mother
Maternal drugs- anticonvulsants(valproate, carbamazepine)
Uncontrolled maternal diabetes

Question 5

Pathology of Cranial NTD

Answer 5

Failure of closure of Anterior neuropore

Question 6

Pathology of caudal NTD

Answer 6

Posterior neuropores fail to close

Question 7

Normal closure of Cranial and caudal NT

Answer 7

24, 26 days

Question 8

Caudal NTD
Mnemonic- Arnold Managing
My
Spine

Answer 8

Meningomyelocele- most severe, CSF filled cavity has spinal roots, has risk of infection on rupture, results in flaccidity or decreased tone in Lower limbs and incontinence of bowel and bladder. Ass. with:
Arnold Chiari type 2 malformations in 80% leading to Hydrocephalus

Meningocele- CSF filled cavity with Transillumination test positive

Spinal bifida occulta- asymptomatic, may have swelling or tuft of hairs over defect

Question 9

Cranial NTDs-
Mnemonic- AEI

Answer 9

Anencephaly - most severe: death, skull absent - complete: holoanencephaly, partial: meroanencephaly
Encephalocele- skull defect, brain herniation, mc in occiput
Iniencephaly- occiput defect, cervical vertebrae fused, Stargazer Posture in antenatal USG.