Genetic Problems In Obstetrics

Question 1

Malformation is

Answer 1

Intrinsic abnormality “programmed” in development
E.g. spina bifida, omphalocele

Question 2

Deformation is

Answer 2

Extrinsic mechanical forces imposed by the uterine environment e.g. limb contractures due to anhydramnios

Question 3

Disruption is

Answer 3

More severe change in form or function that occurs when genetically normal tissue is modified as the result of a specific insult e.g. amniotic bands

Question 4

Syndrome is

Answer 4

All abnormalities have the same cause e.g. Down Syndrome

Question 5

Sequence is

Answer 5

All abnormalities occur sequentially as the result
of one initial insult e.g. Potter sequence

Question 6

Association is

Answer 6

Anomalies occur together frequently, but do not
seem to be linked etiologically e.g. VACTERL association
Vertebral defects
Anorectal
Cardiac defects
TE fistula
Renal anomalies
Limb defects

Question 7

Aneuploidy