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4. Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia

Author

Mohamed, Sarar, Elsheikh, Wafa, Al-Aqeel, Aida I., Alhashem, Amal M., Alodaib, Ali, Alahaideb, Lujane, Almashary, Maher, Alharbi, Fahad, AlMalawi, Horia, Ammari, Amer, and Almohaimeed, Sulaiman

Subjects
Mitochondrial Diseases, Propionic Acidemia, Time Factors, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, screening, Incidence, Acyl-CoA Dehydrogenase, Long-Chain, Saudi Arabia, Infant, Newborn, Infant, Newborn, Diseases, Lipid Metabolism, Inborn Errors, Neonatal Screening, Hypothyroidism, Muscular Diseases, newborn, Predictive Value of Tests, incidence, Congenital Bone Marrow Failure Syndromes, Humans, Original Article, Amino Acid Metabolism, Inborn Errors, Biomarkers, Retrospective Studies
Abstract

Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms. Results: During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632. Conclusion: The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures.

Published
2020

12. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Author

Alfadhel, Majid, primary, Umair, Muhammad, additional, Almuzzaini, Bader, additional, Alsaif, Saif, additional, AlMohaimeed, Sulaiman A., additional, Almashary, Maher A., additional, Alharbi, Wardah, additional, Alayyar, Latifah, additional, Alasiri, Abdulrahman, additional, Ballow, Mariam, additional, AlAbdulrahman, Abdulkareem, additional, Alaujan, Monira, additional, Nashabat, Marwan, additional, Al‐Odaib, Ali, additional, Altwaijri, Waleed, additional, Al‐Rumayyan, Ahmed, additional, Alrifai, Muhammad T., additional, Alfares, Ahmed, additional, AlBalwi, Mohammed, additional, and Tabarki, Brahim, additional

Published
2019
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13. Off-Hours Admissions and Mortality in PICU Without 24-Hour Onsite Intensivist Coverage.

Author

Thabet, Farah Chedly, alHaffaf, Faisal Ahmed, Bougmiza, Iheb Mohamed, Bafaqih, Hend Ali, Chehab, May Said, and alMohaimeed, Sulaiman Abdulkareem

Subjects
ARTIFICIAL respiration, CONFIDENCE intervals, LENGTH of stay in hospitals, HOSPITAL admission & discharge, WORKING hours, INTENSIVE care units, LONGITUDINAL method, MEDICAL care, MULTIVARIATE analysis, PATIENTS, PEDIATRICS, LOGISTIC regression analysis, SEVERITY of illness index, DESCRIPTIVE statistics, HOSPITAL mortality
Abstract

Objective: To evaluate whether the off-hours admission has any effect on risk-adjusted mortality and length of stay for nonelective patients admitted to a pediatric intensive care unit (PICU) without 24-hour in-house intensivist coverage. Design: Prospective cohort study. Setting: A 34-bed tertiary PICU. Patients: All consecutive nonelective patients aged 0 to 14 years admitted from January 2012 to June 2015. Measurements and Main Results: A total of 1254 patients were nonelectively admitted to the PICU. They were categorized according to time of PICU admission as either office hours (07:30 to 16:30 from Sunday to Thursday and whenever an intensivist is present in the ICU) or off-hours (16:30 to 07:30, Friday and Saturday and public holidays). Standardized mortality rates (SMRs) of patients admitted during off-hours were compared to SMRs of patients admitted during office hours using Pediatric Risk of Mortality (PRISM2) score. Multivariate logistic regression was used to assess the effect of time of admission on outcome after adjustment for severity of illness using the PRISM2. The mortality observed in the office-hours group was 9.4% and in the off-hours group was 8.1%. The PRISM2-based SMR was 0.83 (95% confidence interval [CI]: 0.43-1.47) for the office-hours group and 0.68 (95% CI: 0.34-1.36) for the off-hours group. No significant differences in length of ICU stay or duration of mechanical ventilation were observed between patients admitted during off-hours and those admitted during office hours. In the logistic regression model, off-hours admission was not significantly associated with a higher mortality (odds ratio: 0.85, 95% CI: 0.57-1.27; P =.44). Conclusions: The absence of an in-house intensivist during off-hours is not associated with an increase in mortality, length of ICU stay, or duration of mechanical ventilation for patients admitted to our pediatric ICU. [ABSTRACT FROM AUTHOR]

Published
2020
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