Screening

Carrier screening before and during pregnancy

The American College of Obstetricians and Gynecologists recommends universal hemoglobinopathy testing for those planning pregnancy.[13][14]​ Hemoglobin electrophoresis or molecular genetic testing (e.g., expanded carrier screening that includes sickle cell disease) should be performed when planning pregnancy, or at the initial prenatal visit if there are no previous test results available.[13] If a woman is found to be a carrier, her reproductive partner should be offered screening.[14] Information and counseling should be offered alongside screening.[14][15]

Offering prenatal screening for sickle cell disease at the time of pregnancy confirmation in primary care may modestly increase the proportion of women screened before 10 weeks' gestation.[16]​

Prenatal diagnosis

Counseling and prenatal diagnosis may be considered if both parents are either carriers or affected by sickle cell disease (or the woman is a carrier or affected and the status of the father is unknown). Available tests for patients who are pregnant include chorionic villus sampling (typically performed at 10-12 weeks' gestation in the US; 11-14 weeks' gestation in the UK) and amniocentesis (typically performed after 15 weeks' gestation).[19][20] These are invasive tests and carry a risk of fetal loss.

Noninvasive prenatal testing (NIPT) of cell-free fetal DNA in maternal circulation is emerging as a potential prenatal screening test for hemoglobinopathies such as sickle cell disease and thalassemia.[13]

Preimplantation genetic testing to prevent a pregnancy with sickle cell disease is an option for prospective parents considering in vitro fertilization.[19][20]​​​​

Newborn screening

In the US, all states practice universal neonatal screening to ensure that all infants with sickle cell disease are identified.[21] Blood for screening is usually taken by heel-stick sample (within 48 hours of birth) and hemoglobin evaluation carried out (ideally within 24 hours of collection).[22][23]

Newborn screening is typically performed using hemoglobin isoelectric focusing (Hb IEF) or high-performance liquid chromatography (HPLC) fractionation. Confirmatory testing should be performed by an alternative method (IEF, HPLC, electrophoresis, or DNA sequencing); timely confirmation is important (no later than age 3 months) to ensure prompt initiation of antibiotic prophylaxis.[25][24]

When an abnormal result is confirmed, the laboratory must have a system in place for rapid communication of results to the patient's healthcare provider.​​ Appropriate referral to a specialty sickle cell clinic for education, genetic counseling, and routine follow-up care is essential and should occur as soon as the diagnosis is made.

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