Down syndrome

Question 1

What is involved in the combined 1st trimester screening

Answer 1

Blood test

Ultrasound

Question 2

What is involved in the NIPT?

Answer 2

Testing free DNA in maternal blood

>99% sensitivity and specificity

Question 3

What increases the rate of false negatives in NIPT?

Answer 3

Gestation <10 weeks

Maternal obesity

Question 4

When is NIPT done?

Answer 4

> 10 weeks gestations

Question 5

What can cause a false positive or false negative result in NIPT?

Answer 5

Mosaicism in the foetus

Question 6

By what gestational age does beta-HCG drop off?

Answer 6

By 16 weeks

Question 7

What is involved in the second trimester screening?

Answer 7

Morphology scan

Blood test

Question 8

What are the childhood complications of DS?

Answer 8

AVSD, tetrology of Fallot, hypoplastic leaft heart
Duodenal stenosis
Hirschsprung's disease 
Hypoplastic thyroid
Coeliac disease 
Intelectual disability (varies)
Conductive hearing loss
AML, ALL
Early onset Alzheimer's

Question 9

What are the clinical features of Hirschsprung’s disease in neonates?

Answer 9

Bilious vomiting
Abdominal distension
Failure to pass meconium

Question 10

What are the clinical features of Hirschsprung’s disease in infants?

Answer 10

Constant constipations
Putrescent diarrhoea
Malnutrition

Question 11

What is Hirschsprung’s disease diagnosied?

Answer 11

Full-thickness rectal biopsy

Question 12

What is the management for Hisrschprung’s disease?

Answer 12

Bowel irrigation and washout

Ressection of aganglionic segment - pull-through procedure