Guidance

Sickle cell and thalassaemia screening pathway

Updated 29 March 2021

This flowchart (text description and illustration below) describes the sickle cell and thalassaemia (SCT) screening programme pathway.

1. Provide information and offer screening

Known ‘at risk’ women or couples should be fast-tracked for timely counselling and prenatal diagnosis (PND).

2. Is screening accepted?

Yes: Take sample and send with the completed family origin questionnaire (FOQ) to the laboratory for testing.

No: Record decline on the FOQ and send to the laboratory. End of pathway.

3. Is the result screen negative?

Yes: Continue pregnancy. End of pathway.

No (woman is a carrier, or has condition or inconclusive result): Provide counselling and offer screening to the baby’s biological father. If a woman has an inconclusive result, further maternal testing may be required depending on the variant suspected.

4. Biological father accepts screening?

Yes: Take sample and send to the laboratory for testing.

No (at risk woman): Offer information, counselling and PND. Go straight to step 6.

5. Is the result screen negative?

Yes: Continue pregnancy. End of pathway.

No (at risk couple): Offer information, counselling and PND.

6. Is PND accepted?

Yes: Take sample and send to DNA laboratory for testing.

No: Send at risk pregnancy form to newborn screening laboratory. Continue pregnancy. End of pathway.

7. Does baby have condition?

Yes: Discuss options.

No: Send at risk pregnancy form to newborn screening laboratory. Continue pregnancy. End of pathway.

8. What is the woman’s choice?

Continue pregnancy: Send at risk pregnancy form to newborn screening laboratory. Continue pregnancy. End of pathway.

Terminate pregnancy: Offer follow-up support. End of pathway.