Live birth following preimplantation genetic testing to prevent sickle cell disease in a low resource setting: A case...

Preimplantation genetic testing for monogenic disorders (PGT-M) can detect sickle cell disease (HbSS) in embryos during In-Vitro Fertilization (IVF), to ensure the birth of unaffected children. The prevalence of haemoglobin S gene (HbS) is high in Nigeria and Sub-Saharan Africa, but access to PGT-M services in the setting is limited. A couple with the sickle cell trait (HbAS) had IVF, following which 12 embryos were biopsied and the corresponding cells analyzed using minisequencing for whole genome amplification and polymerase chain reaction (PCR) to determine each embryo's haemoglobin (Hb) genotype. Two HbAA (normal) embryos were transferred to the mother resulting in the birth of a live HbAA male infant at 38 weeks gestation. The child has remained well after nine months of follow up with HbAA at repeat genotype evaluation.