Antenatal screening

Question 1

Outline how antenatal screening is performed for detecting haemoglobinopathies

Answer 1

• Screening can be selective or universal
• Selection for screening is based on a number of factors: Such as ethinic origin, FBC indices, Sickle solubility test, Family history
• Lab tests such as FBC, Sickle solubility, HPLC, Hb electrophoresis and alpha gene analysis are taken for the mother.
• If a carrier is detected, the partner is then tested in the same way
• If both parents are shown to be carriers for the same defect, a pre-natal diagnosis is offered.

Question 2

Outline how neonatal screening is performed for detecting haemoglobinopathies

Answer 2

A blood spot card is used to detect an array of genetic conditions, including haemoglobinopathies