Newborn exam

Question 1

Newborn metabolic screening screens for which conditions?

Answer 1

• cystic fibrosis
• congenital hypothyroidism
• immunodeficiency disease
• biotinidase deficiency
• congenital adrenal hypoplasia

Question 2

Embryology and cell separation of monozygotic twins

Answer 2

• dichorionic diamniotic = separation during morula stage (days 1-3)
• monochorionic diamniotic = separation during blastocyst stage (days 4-7)
• monochorionic monoamniotic = separation after implantation (days 7-17)

Question 3

what is the miscarriage risk for CVS and amniocentesis

Answer 3

CVS = 0.5-1%
Amnio = 0.25-0.5%

Question 4

factors that increase the risk of vitamin K deficiency bleeding (VKDB)

Answer 4

• traumatic / instrumental birth
• prematurity
• birth asphyxia
• cephalhaematoma
• known hepatic disease

Question 5

signs and symptoms of vitamin k deficiency bleeding

Answer 5

• spontaneous bruising
• bleeding from the umbilicus or nose
• blood in stools or vomit
• prolonged jaundice
• impaired neurological response
• less responsive

Question 6

causes of pathological jaundice

Answer 6

ABO incompatibility
intestinal obstruction
congenital hypothyroidism
infection / sepsis - cytokines
exaggerated haemolysis