Utilization of Preimplantation Genetic Diagnosis in prevention of Neonatal Diabetes: a Case Report of Wolcott Rallison Syndrome

Introduction: Pre-implantation Genetic Diagnosis (PGD) is a diagnostic modality that is being utilized to prevent diseases caused by chromosomal anomalies or single gene defects. Such diseases can be associated with significant morbidity and mortality with a large impact on families and communities. Neonatal diabetes is a rare disease but its incidence in Abu Dhabi is among the highest in the world. The high rate of consanguinity in the Gulf region increases the frequency of the hereditary diseases and makes PGD an attractive option to less accepted procedures like termination of pregnancy (TOP). Case Report: We present an extended family in which consanguinity is highly prevalent. The family had 6 affected individuals with Wolcott Rallison Syndrome (WRS), of whom, 5 died due to liver failure. Affected individuals presented with neonatal diabetes, poor growth. 3 had bone marrow suppression and 4 had skeletal dysplasia. The family did not accept prenatal diagnosis and TOP due to religious beliefs but opted for PGD. In vitro fertilization, intracytoplasmic sperm injection and PGD were utilized to fertilize unaffected embryos which resulted in birth of a healthy girl. Conclusion: PGD can be utilized successfully in prevention of neonatal diabetes in families who objects to TOP due to religious reasons. PGD can offer an alternative option for conceiving with normal babies in areas where recessive diseases are prevalent like the Gulf region.