L7: Congenital defects and their scientific basis

Question 1

congenital=

Answer 1

present at birth

Question 2

anomaly=

Answer 2

structural deviation from the norm

Question 3

malformation=

Answer 3

primary deviation of embryogenesis

Question 4

disruption=

Answer 4

secondary disturbance due to early influence of external factors (starts okay then goes wrong)

Question 5

deformation=

Answer 5

late changes in previously normal structures (was okay got squashed)

Question 6

teratogen congenital infections

Answer 6

TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes)

Question 7

effect in weeks 2-4=

Answer 7

polytopic field defect

Question 8

effect in weeks 2-8=

Answer 8

monotropic field defect

Question 9

organs affected=

Answer 9

organogenesis

Question 10

when are organs affected

Answer 10

> 9wks

Question 11

2 polytopic field defects

Answer 11

di george

VACTERAL

Question 12

what does di george effect

Answer 12

heart

thymus

Question 13

VACTERAL=

Answer 13

vertebral anomalies 
anal atresia 
cardiac abnormalities 
tracheo-esophageal fistula
renal anomalies 
limb anomalies

Question 14

2 e.g monotopic field defect=

Answer 14

cleft lip

tracheo-oesophageal fistula

Question 15

eg of organogenesis defect

Answer 15

neural tube defect (spina bifida)

Question 16

2 e.g of a disruption

Answer 16

amniotic bands

poland anomaly

Question 17

what is poland anomaly

Answer 17

interruption of subclavian artery vascular supply can lead to lack of breast in half of body

Question 18

what causes poland anomaly

Answer 18

mother using cocaine

Question 19

e.g of a sequence

Answer 19

potters sequence

Question 20

what is potters sequence

Answer 20

kidneys don’t form –> no urine –> no amniotic fluid –> loss of lung fluid –> pulmonary hypoplasia –> squashed baby

Question 21

what genes are often involved in gene defects

Answer 21

transcription factor

Question 22

trisomy 21=

Answer 22

downs

Question 23

trisomy 18=

Answer 23

edwards syndrome

Question 24

trisomy 13=

Answer 24

patau syndrome

Question 25

congenital rubella causes

Answer 25

yellow skin
spotty
eye and brain abnormalities
hearing affected later

Question 26

foetal alcohol syndrome causes (4)

Answer 26

IUGR
Learning difficulties
dysmorphic features
behavioural problems