A 29-year-old primigravida at 16 weeks of gestation attends the GP. She is a known carrier of beta-thalassaemia trait. Her partner has just been teste...

Question

A 29-year-old primigravida at 16 weeks of gestation attends the GP. She is a known carrier of beta-thalassaemia trait. Her partner has just been tested and is also a beta-thalassaemia carrier. Which is the single most appropriate next step?

Accepted Answer

Offer urgent referral to a specialist haemoglobinopathy counsellor to discuss the 1 in 4 risk of beta-thalassaemia major in the baby and prenatal diagnostic testing

Answer

Reassure that thalassaemia trait is harmless and no further action is needed

Answer

Arrange a fetal MRI at 20 weeks

Answer

Defer discussion until after delivery and test the baby

Answer

Offer non-invasive prenatal testing for thalassaemia at the anomaly scan

uk-drcog MCQ (SBA): Both Parents Thalassaemia Carriers

A 29-year-old primigravida at 16 weeks of gestation attends the GP. She is a known carrier of beta-thalassaemia trait. Her partner has just been tested and is also a beta-thalassaemia carrier. Which is the single most appropriate next step?