The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide.
Objective: To assess the attitudes of Saudi parents towards prenatal diagnosis and termination of pregnancy for a range of different genetic disorders. Methods: Two hundred Saudi parents (100 fathers and 100 mothers) completed a structured questionnaire which sought their views about each of 30 different conditions. Results: The great majority of people would consider a termination of pregnancy for at least one of the conditions studied. Mothers and fathers held similar attitudes towards prenatal diagnosis, but mothers’ attitudes towards termination of pregnancy were more favourable. Parents’ collective attitudes towards prenatal diagnosis and towards termination of pregnancy were correlated. Conclusions: Saudi parents are favourably inclined towards prenatal diagnosis, and consider termination of pregnancy to be acceptable for some conditions. New technologies provide parents with more reproductive choices but also present them with more dilemmas.
PGD might be considered for a range of conditions in Saudi Arabia. However, it is not an easy option, and couples must be selected and counselled appropriately.
Sickle-cell disease (SCD) is a wide-spread inherited hemolytic anemia that is due to a point mutation, leading to the substitution of valine for glutamic acid, causing a spectrum of clinical manifestations in addition to hemolysis and anemia. Acute painful crisis is a common sequela that can cause significant morbidity and negatively impact the patient's quality of life. Remarkable improvements in the understanding of the pathogenesis of this clinical syndrome and the role of cell adhesion, inflammation, and coagulation in acute painful crisis have led to changes in the management of pain. Due to the endemic nature of SCD in various parts of the Middle East, a group of physicians and scientists from the United States and Middle East recently met to draw up a set of suggested guidelines for the management of acute painful crisis that are reflective of local and international experience. This review brings together a detailed etiology, the pathophysiology, and clinical presentation of SCD, including the differential diagnoses of pain associated with the disease, with evidence-based recommendations for pain management and the potential impact of low-molecular-weight heparin (LMWH), from the perspective of physicians and scientists with long-term experience in the management of a large number of patients with SCD.
PGD is acceptable to many couples and for some, it represents a valuable alternative to PND. However, parents' concerns are complex, and the acceptability of different reproductive technologies must be established on an individual basis.
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