Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon.

Background: Initiation of Prenatal Genetic Diagnosis (PND) has laid the foundation of the first medical genetic service in Cameroon.

Method: Cross-sectional descriptive study, illustrating some aspects of the genetic service using a small 24-months PND experience.

Results: The service began with a medical geneticist who had to follow-up the building and equipments supplies of the diagnosis laboratory; and to personally perform genetic consultations, molecular experiments and post-results counseling. PND was indicated for sickle cell disease (SCD) in 33 cases (55%) and chromosomal anomalies in 27 cases (45%). With international collaboration, DNA analysis revealed 6 SCD-affected foetuses (20.7%); QF-PCR (N=25) and full karyotype (N=8) analysis revealed cases of trisomy 21 and trisomy 18. Following PND success, national effort granted more human and material resources to improve the service. The preliminary experience was made possible by three factors: 1) the availability of a trained Cameroonian medical geneticist 2) the availability of obstetricians trained in fetal medicine and 3) advocacy initiatives at national and international levels, which have proven invaluable for advice, training, sourcing of materials, and back-up reference diagnostic laboratory.

Conclusion: The practice of medical genetics, involving prenatal genetic diagnosis of sickle cell disease and chromosomal anomalies, is possible in Cameroon (sub-Saharan Africa).