Prenatal testing for sickle cell disease

Sickle cell disease is inherited through haemoglobin genes. Testing the biological parents can show whether either person carries a relevant gene variant and whether further testing should be offered. A carrier usually has one altered gene and does not have sickle cell disease, but can pass the gene to a child. If both parents carry relevant variants, a genetics professional can explain possible inheritance outcomes for the pregnancy.

A screening blood test and a diagnostic prenatal test answer different questions. Screening estimates whether more assessment may be useful; diagnostic testing examines fetal genetic material and has its own timing, procedure, and risks. Results should be explained in a counselling appointment.

Tell your obstetric team about any family history, previous child with sickle cell disease, or known carrier result. Ask which test is appropriate, when it can be performed, how results are reported, and what choices or support follow each possible result. Genetic counselling can help both parents understand inheritance without pressure. Premarital screening may also identify carrier status before pregnancy, while a blood test during pregnancy may guide the next step.

Arrange testing promptly when your clinician recommends it, particularly if both parents may carry a haemoglobin variant or pregnancy decisions depend on timing. Seek urgent medical care for pregnancy warning signs such as heavy bleeding, severe abdominal pain, fainting, or reduced fetal movement later in pregnancy. These symptoms are not evidence of sickle cell disease in the fetus and need separate assessment.

Should both parents have haemoglobin testing? Is this a screening or diagnostic test, and what are its limitations? When will results arrive, who will explain them, and can we meet a genetic counsellor?