PH: Antenatal Screening

Question 1

How may maternal infection with hepatitis B virus affect the foetus?

Answer 1

Can lead to stillbirth or miscarriage

Question 2

What tests are conducted as part of baby screening?

Answer 2

> Physical inspection: eyes, heart, hips and testes
Skin prick test
Hearing test
Infectious disease screen (mum)

Question 3

What conditions are tested for in a baby heel prick test?

Answer 3

Sickle cell, CF, hypothyroidism and inherited metabolic diseases (PKU, MCADD, MSUD, IVA, GA1, HCU)

Question 4

How can Down’s syndrome be diagnosed antenatally?

Answer 4

• First trimester – nuchal translucency (NT), free -hCG, PAPP-A (pregnancy associated plasma protein A)
• Second trimester – AFP uE3 (unconjugated oestriol), free -hCG, total hCG, inhibin-A

An elevated inhibin A (with an increased beta-hCG, decreased AFP, and a decreased estriol) is suggestive of the presence of a fetus with Down syndrome