A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening for sickle cell disease (SCD) is limited in sub-Saharan Africa.
• Sickle cell disease poses a significant health burden in the region.
• Establishing effective screening programs is crucial for early intervention and improved outcomes.

Purpose of the Study:

• To describe the implementation and outcomes of a novel SCD newborn screening program at Aminu Kano Teaching Hospital (AKTH), Nigeria.
• To assess the program's components: prenatal and postnatal genetic counseling, newborn screening, and referral to comprehensive care.
• To evaluate the program's sustainability and impact in a low-income setting.

Main Methods:

• Implementation of a multi-component SCD screening program including prenatal counseling, newborn screening, postnatal counseling, and early referral.
• Screening of 7530 infants for SCD and sickle cell trait (SCT) between September 2020 and December 2023.
• Tracking of genetic counseling provision and referral rates for infants diagnosed with SCD and SCT.

Main Results:

• The program identified 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT.
• 73.8% of newborns with SCD received individualized genetic counseling, and 46% were referred to care by 3 months.
• 50.3% of parents of newborns with SCT received group genetic counseling.

Conclusions:

• The SCD newborn screening program at AKTH has become the standard of care.
• The program demonstrates the feasibility of integrating SCD screening, genetic counseling, and comprehensive care in low-resource settings.
• This model offers a sustainable approach to managing sickle cell disease in sub-Saharan Africa.