Paediatrics seminar: Programming by In Utero Environment - How Early Life Experiences May Affect Future Health

Question 1

What is the incidence of down syndrome?
What is life expetancy?
What is associated diseases?

Answer 1

Incidence - 1:600-800
CHD in 40%, 70% AVSD
Life expentancy without CHD-60
Death caused by infections, CHD and malignancy
25-50 IQ for older patients 25

Associated diseases
* Dementia in 40-100%
* Short stature
* Hypothyroidism
* 15-20 fold increase in the incidence of leukemia
* Male infertility

Question 2

What is the incidence of edwards syndrome? Which gender affected?
What is associated diseases?
What are signs?
Prognosis

Answer 2

Incidence- 1:3000 liveborn, 80% females
Cardiac abnormalities in 100%: most common are VSD and myxomatous changes of the valves

Signs:
* Microcephaly but with prominent occiput
* Micrognathia
* Clenched hands
* Rocker bottom feet

• Prenatal death in 75%
• Only 5% of the liveborn reach 1 year of life

Question 3

What is the incidence of trisomy 13 Patau syndrome?
What is associated diseases?
What are signs?
Prognosis

Answer 3

Incidence: 1:8000 liveborn, due to non disjunction

Associated diseases
Most common CHD: ASD, TOF, TGA

Signs:
* Microcephaly, microphthalmos, clefts, post-axial polydactyly, cryptorchidism

Prognosis: prenatal death (50%), only 5% of hte liveborn make it to 1 year