Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. RESULTS: A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. CONCLUSION: 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.

Attitudes of Saudi parents with a deaf child towards prenatal diagnosis and termination of pregnancy.

OBJECTIVE: The aim of this study was to assess the attitudes of Muslim parents from Saudi Arabia with a deaf child towards prenatal diagnosis (PND) and termination of pregnancy (TOP) for deafness and 29 other genetic and medical conditions. METHODS: A questionnaire mainly focused on parent's attitude toward PND and TOP for 30 different hypothetical scenarios for a series of genetic, non-genetic and non-medical conditions was completed by 70 Saudi parents with a deaf child. The results were compared and scored, and parents' comments were noted. RESULTS: The attitude for PND was favorable (81.4%) and was influenced by the severity of the condition among men. Among women, it was influenced by cultural considerations. For TOP, average acceptance rate (25.2%) was lower than for PND. Attitudes toward TOP were fairly similar for men and women, as both groups would consider TOP for Alzheimer disease, cleft lip and palate, and cystic fibrosis. In addition, women also ranked high deafness and thalassemia for consideration of TOP. Acceptance for TOP was not influenced by gender, income, education level, number of children, or partner attending clinic. CONCLUSION: In the Saudi society, cultural consideration influences attitudes towards PND and TOP rather than the severity of the condition.

Parent's attitude toward prenatal diagnosis and termination of pregnancy could be influenced by other factors rather than by the severity of the condition.

OBJECTIVE: The aim of this study is to investigate whether the severity of a particular condition alone influences parents' attitudes toward prenatal diagnosis (PND) and termination of pregnancy (TOP) or are there other factors involved? METHODS: A questionnaire that mainly focuses on parent's attitude toward PND and TOP for 30 different hypothetical scenarios for a series of genetic, non-genetic, and non-medical conditions were completed by 400 Saudi parents. Results were compared and scored and parent comments were noted. Additionally, cross tabulation of thalassemia, considered the most severe and had the most favorable PND and TOP, against the 29 other conditions were carried out to find similarities and different views toward TOP and PND. RESULTS: We found that parents' attitudes toward PND and TOP for thalassemia are significantly associated with their attitudes in relation to all of the other conditions (p < 0.01). CONCLUSION: Saudi Parents' attitudes toward TOP and PND are not always influenced by the severity of the condition.

Attitudes to prenatal diagnosis and termination of pregnancy for 30 conditions among women in Saudi Arabia and the UK.

OBJECTIVE: The aim of this research was to compare attitudes between women from different cultural and/or religious backgrounds toward prenatal diagnosis (PND) and termination of pregnancy (TOP) for 30 different conditions. METHODS: A questionnaire examining parents' attitudes toward PND and TOP for 30 different conditions was completed by 100 Saudi, 222 UK-White, and 198 UK-Pakistani women. Comparison of overall attitudes with PND and TOP between groups was carried out, and a total score reflecting attitudes was obtained. RESULTS: In general, there were positive attitudes toward PND among the three groups surveyed. The attitudes of Saudi and UK-Pakistani women toward PND were more favorable than UK-White women. Overall, acceptance of TOP was lower than for PND. For the majority of conditions, acceptance of TOP was highest in Saudi women and lowest in UK-Pakistani women. CONCLUSION: Attitudes toward TOP were significantly different between the three groups and may be influenced by cultural and/or religious factors. Availability of social services, genetic counseling, and rehabilitation centers may also influence attitude toward PND and TOP.

Preimplantation genetic diagnosis in Saudi Arabia: parents' experience and attitudes.

BACKGROUND: Preimplantation genetic diagnosis (PGD) has been proposed as an alternative to prenatal diagnosis (PND). This study compares the attitudes towards PGD of four groups of parents in Saudi Arabia: two groups at genetic risk for different conditions but with no experience of PGD procedures and two groups who had experience, either of PGD or of in vitro fertilisation (IVF) for infertility. METHODS: One hundred and eighty four participants attending the King Faisal Specialist Hospital and Research Centre (KFSH&RC) in Riyadh were interviewed using a semi-structured questionnaire: 49 had children affected by a haemoglobin disorder, 48 had children with non-syndromic deafness, 37 were attending the PGD service and 50 were attending IVF services for infertility. RESULTS: Opinions in the two genetic groups were very similar: families were enthusiastic about PGD and relatively unconcerned about its technical limitations or the desirability of a confirmatory PND. The technical limitations of PGD and the moral status of embryos were of greatest concern to the PGD group. Waiting for the pregnancy result was the most commonly mentioned concern in the PGD and IVF groups. CONCLUSION: 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.

Prevalence of Bleeding Symptoms among Adolescents and Young Adults in the Capital City of Saudi Arabia.

BACKGROUND: Bleeding disorders vary in prevalence. While some are rare, some can be common in both sexes. Most bleeding disorders manifest as chronic bleeding tendencies or as an increase in bleeding during surgical procedures or trauma. The consequences of bleeding can be as simple as iron deficiency or catastrophic, resulting in severe morbidity and mortality. Bleeding disorders typically affect both sexes except hemophilia A and B, which mainly affects males. METHOD: We conducted a questionnaire-based survey among adolescents and young adults (1901 [49%] boys, 1980 [51%] girls) in Riyadh city regarding bleeding symptoms. Of these, 1849 (47.6%) responded "Yes/Positive" for at least one question about the bleeding symptoms. RESULTS: The most common bleeding symptom was epistaxis (19.7% of the sample population) detected in Phase I of the study. A tandem survey was conducted among 525 adolescents who had responded "Yes/Positive" to any one of the questions inquiring about bleeding symptoms. CONCLUSION: In this study, we report for the first time the prevalence of bleeding symptoms in a representative sample of Saudi adolescents and young adults.

Attitudes to prenatal testing and termination of pregnancy in Saudi Arabia.

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.

Attitudes to prenatal and preimplantation diagnosis in Saudi parents at genetic risk.

BACKGROUND: Prenatal diagnosis (PND) is only available for severe abnormality in Saudi Arabia, and preimplantation genetic diagnosis (PGD) has been proposed as a valuable alternative. The acceptability of PGD is unexplored, and may ultimately determine the value of this technology in Saudi Arabia. This study reports attitudes towards PND and PGD of Saudi couples offered genetic counselling following the birth of a child with a single gene or chromosomal condition. METHODS: Thirty couples attending the King Faisal Specialist Hospital and Research Centre in Riyadh were interviewed using a semi-structured questionnaire. One couple had previous experience of PND and none had experience of PGD or IVF. RESULTS: Eight of the 30 couples (27%) would only accept PGD; four (13%) only PND; three (10%) either technology; the remainder would accept neither test, or were unsure. The main concerns of those who would accept neither technology were related to personal religious views. Specific concerns about PGD related to the IVF procedure, the risk of multiple pregnancies, the chance of mistakes and the chance of not getting pregnant. A high proportion of couples (six out of seven; 86%) who had a child with thalassaemia expressed interest in PGD, and all would be prepared to use technology to avoid having an affected child. Views were more mixed for the other conditions. CONCLUSION: 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.