Abnormal Development

Question 1

What does malformation, deformation, disruption and dysplasia mean?

Answer 1

Malformation - An abnormality of structure resulting from an intrinsic defect

Deformation - Variation in structure resulting from the response of normal tissue to mechanical forces

Disruption - Breakdown of tissues that were at one time normal due to extrinsic factors

Dysplasia – abnormal cellular organisation or function within a specific tissue type throughout the
body, resulting in apparent structural changes

Question 2

Causes of birth Defects?

Answer 2

Question 3

trisomay rescue

Answer 3

Question 4

genome microarray methodology

Answer 4

Question 5

aniteplieptics

Answer 5

Antiepileptics in pregnancy: overall 2-3 fold increased risk
of a congenital anomaly compared to general population
Fetal Valproate Embryopathy
Maj malform: Prevalence 10.7% VPA v. 2.9% all other
antiepileptics and 1.6% in general population (Wyszynski
et al 2005)
Features: hypertelorism, infra-orbital creases, CHD (VSD),
radial ray anomalies, polydactyly, neural tube defect,
developmental delay, learning difficulties
Valproate: dose dependent effect(>1000mg/day high risk)

Question 6

meternal infections?

Answer 6

Rubella
Varicella zoster
( <13wks – fetal death/abortion; 13-20 wks – ocular and
limb anomalies, microcephaly)
Cytomegalovirus
Toxoplasmosis
(effects throughout pregnancy; ID, chorioretinitis, cerebral
calcification, seizures, hepatosplenomegaly)