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Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

ABSTRACT: The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n?=?2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent's choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n?=?161) and sickle cell anemia (n?=?152) were commonly available genetic disorder among participant's family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of?>?36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

SUBMITTER: AbdulAzeez S

PROVIDER: S-EPMC6872573 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

AbdulAzeez Sayed S Al Qahtani Nourah H NH Almandil Noor B NB Al-Amodi Amani M AM Aldakeel Sumayh A SA Ghanem Neda Z NZ Alkuroud Deem N DN AlTurki Ameen A AlQattan Quds Abdulhakeem QA Alghamdi Abdulrahman A Alhur Norah Fahad NF Al Taifi Hatoon Ahmed HA Aljofi Halah Egal HE Jermy B Rabindran BR Raman Vinoth V Giambona Antonino A Maggio Aurelio A Borgio J Francis JF

Scientific reports 20191121 1

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decisio ...[more]

PMID: 31754150

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Project description:Background and aimDiabetes mellitus (DM) of both types is a genetically determined disorder and is prevalent in the Saudi population. Furthermore, the rate of consanguineous marriages is also high among Saudis. Therefore, we aimed to determine the prevalence of consanguinity among people with DM and investigate the effect of consanguinity on the occurrence of diabetes at different levels.MethodsA descriptive cross-sectional study was carried out at the Obesity, Metabolism and Endocrine Center of King Fahad Medical City in Riyadh, Saudi Arabia in January 2021. Information on patients' demographics (age, gender), family history of DM, and presence of consanguinity, and degree of consanguineous marriage were collected.ResultsWe included 324 people with DM, 143 (44.1%) with type 1 diabetes (T1DM), and 181 (55.9%) with type 2 diabetes (T2DM). We included 201 people without DM for T1DM control and 300 people for T2DM control. The mean age was 26.6 ± 11.1 years for the T1DM group and 57.8 ± 11.6 years for the T2DM group. Consanguinity was noted among 73 (51.4%) T1DM patients, but T1DM was not significantly related to consanguinity. T2DM was significantly correlated with consanguinity (r=0.132, p=0.004) particularly among patients with a degree of consanguinity as first-cousins for both paternal and maternal sides (odds ratio [OR]=1.151 and 1.476). Gender and positive family history for DM and consanguineous marriage between cousins were significant factors for T2DM. After controlling for gender and a positive family history of DM, consanguineous marriage between cousins from both the paternal and maternal sides remained significant.ConclusionT2DM occurrence increases in presence of consanguinity in the Saudi population. This relationship might contribute to the higher risk of DM prevalence. Further studies are needed to elucidate this relationship deeply. It's unclear whether lowering consanguineous marriages would decrease the prevalence of diabetes or not. However, a clear message about this correlation has to be delivered to the public.

Project description:BACKGROUND:Gingivitis is a site-specific inflammatory condition initiated by dental biofilm accumulation. The accumulation of dental plaque on the gingival margin triggers inflammatory effects that can become chronic. In addition to its local effect, gingival inflammation has recently been suggested to have an impact on general health. OBJECTIVE:Determine the prevalence of gingivitis and its relationship to oral hygiene practices in high school children in Saudi Arabia. DESIGN:Cross-sectional. SETTING:High schools from different regions in Saudi Arabia. PATIENTS AND METHODS:Periodontal examinations were conducted on a randomly selected sample of high school children between the ages of 15 and 19 years. Gingival and plaque indices, probing depth, clinical attachment level, oral hygiene practices and sociodemographic characteristics were recorded. Data were analyzed using descriptive statistics, chi-square and the independent t test. MAIN OUTCOME MEASURE:Prevalence of gingivitis as defined by mean gingival index. SAMPLE SIZE:2435 high school students. RESULTS:Twenty-one percent of the sample had slight gingivitis, 42.3% had moderate, and 1.8% had severe. Gender, toothbrushing, tongue brushing, plaque index, and the percentage of pocket depth (PD) ?4 mm showed a significant relationship with the severity of gingivitis. Almost 39.3% of females had a healthy periodontal status when compared to males (30.7%). Thirty-five percent (35.5%) of students who brushed their teeth had a healthy periodontium compared to 26.9% who did not brush. The mean plaque index was significantly higher in students with severe gingivitis when compared to students with healthy periodontium (2.4 vs. 0.79, respectively). CONCLUSION:Gingivitis prevalence was high compared with Western countries in a nationally representative sample of high school students in Saudi Arabia and was influenced by oral hygiene practices. LIMITATIONS:The half-mouth study design may underestimate disease prevalence. Data on oral hygiene practices was self-reported and may thus have been affected by social desirability bias. CONFLICT OF INTEREST:None.

Project description:BackgroundLimited reports addressing physicians' understanding of the various low-density lipoprotein cholesterol (LDL-C) targets/statin intensity required for treating the various dyslipidemia patient populations in Saudi Arabia are available. Therefore, the current study assessed the perceptions and beliefs of practicing clinicians in Saudi Arabia regarding the current practice for management of dyslipidemia and potential perceived barriers to adherence to lipid guidelines encountered in their regular clinical practice. Knowledge of different clinical practices and beliefs could have a positive impact on improving the quality of future care provided by physicians.MethodsA survey questionnaire was designed to assess physicians' familiarity, usage, and adherence to seven different international guidelines and used to evaluate the management of dyslipidemia, practice of patient treatment, and perceived obstacles to adhering to lipid guidelines related to specific patients, doctors, and practice issues.ResultsA total of 467 physicians were recruited for the study: (1) 57.2% were primary care physicians (PCPs) and (2) 42.8% were specialists. About 90.8% of them followed lipid guidelines of which the most common set were based on those by the American College of Cardiology/American Heart Association. The most utilized risk assessment tool was the atherosclerotic cardiovascular disease (ASCVD) risk calculator. About 60% of the physicians set an LDL-C target for their patients based on a combination of patients' risk factors and lipid profiles. In all, 42.1% of the physicians chose not to change existing therapy among patients with dyslipidemia to attain a non-high-density lipoprotein goal with controlled LDL-C level. Atorvastatin accounted for the greatest percentage of primary and secondary prevention choices (71.9% and 69.6%, respectively). Rosuvastatin was mostly preferred by physicians for patients with familial hypercholesterolemia. About two-thirds of the physicians (77.9%) prescribed statins to diabetic patients aged 40-75 years. Statin intolerance was encountered by 62.9% of the physicians in ≤ 10% of patients by 62.9%. Therapeutic strategies included switching to an alternative statin (40.1%) followed by reducing the statin dose (35.3%). Ezetimibe was prescribed by most physicians (77.9%) as an add-on to statin if the LDL-C target was not achieved. Fibrate was most preferred by physicians (62.7%) for hypertriglyceremia treatment followed by statins (28.7% of the physicians). Sixty-six percent reported not using proprotein convertase subtilisin/kexin type 9 serine protease inhibitors in their clinical practice due to unavailability at their institute (51.8%), high costs (26.3%), and/or lack of knowledge (20.6%). Perceived barriers to guideline adherence identified by physicians were lack of familiarity and knowledge of the guidelines, patient non-adherence, medication costs, and lack of timely follow-up appointments and educational tools. Multiple similarities and differences were observed after comparisons were made between specialists and PCPs in terms of guideline preference, clinical practice, and perceived barriers.ConclusionDifferent perceptions and attitudes among physicians in Saudi Arabia were found due to variable recommendations by international lipid guidelines. Perceived barriers that included the patient, physician, and practice were identified by physicians at multiple levels. Multiple challenges and different action gaps were observed when comparing specialists to PCPs. It is recommended that standardized practices be followed by clinicians in Saudi Arabia, and actions to address the outlined barriers are essential for optimizing health outcomes and ASCVD prevention.

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Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

Publications

Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia.

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