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.

Helicobacter pylori (H. pylori) Infection-Associated Dyslipidemia in the Asir Region of Saudi Arabia.

OBJECTIVES: H. pylori-associated dyslipidemia has been reported to be a major risk factor for atherosclerosis and coronary heart diseases. We aimed to investigate the association of the H. pylori infection with dyslipidemia. METHODS: A retrospective case-control study was undertaken to evaluate H. pylori-associated dyslipidemia, where H. pylori-positive individuals were treated as the case group (n = 260) while H. pylori-negative individuals were considered as the control group (n = 250). The mean ± SD of the age of the patients included (n = 510) was 44.01 ± 13.58 years. Study subjects with a total cholesterol level of >5.17 mmol/L and/or a triglyceride level of >1.69 mmol/L and/or an LDL-C level of >2.59 mmol/L and/or an HDL-C level of <1 mmol/L in males and/or an HDL-C level of <1.3 mmol/L in females were defined as dyslipidemia. Descriptive (mean, standard deviation, median, and IQR) and inferential (t-test, chi-square test, and logistic regression) statistical analyses were undertaken using the R-base/R-studio (v-4.0.2)/tidyverse package. Univariate and bivariate logistic regressions were executed to calculate the crude and adjusted odds ratio along with the p-value. A p-value of <0.05 was the cut-off for statistical significance. We used ggplot2 for data visualization. RESULTS: The differences in overall mean ± SD (H. pylori positive vs. negative) of the cholesterol (5.22 ± 1.0 vs. 5.49 ± 0.85, p < 0.01), triglyceride (1.66 ± 0.75 vs. 1.29 ± 0.71, p < 0.001), LDL-C (3.43 ± 0.74 vs. 3.26 ± 0.81, p < 0.05), and HDL-C (1.15 ± 0.30 vs. 1.30 ± 0.25, p < 0.001) levels were statistically significant. The cholesterol and LDL-C levels in ages >60, age = 30-60, in females, and LDL-C levels in males were not significantly different for the H. pylori-positive and -negative groups. The proportion (H. pylori positive vs. negative) of hypercholesterolemia (190/59.9% vs. 127/40% p < 0.01), hypertriglyceridemia (136/68% vs. 64/32% p < 0.001), high LDL-cholesterolemia levels (234/53% vs. 201/46% p < 0.01), and low HDL-cholesterolemia levels (149/71% vs. 60/28.7% p < 0.01) were statistically significant. The odds of having hypercholesterolemia (AOR: 2.64, 95%CI: 1.824-3.848, p < 0.001), hypertriglyceridemia (AOR: 3.24, 95%CI: 2.227-4.757, p < 0.001), an increased LDL-C level (AOR: 2.174, 95%CI: 1.309-3.684, p < 0.01), and a decreased HDL-C level (AOR: 4.2, 95%CI: 2.937-6.321, p < 0.001) were 2.64, 3.24, 2.17, and 4.2 times higher in the H. pylori-infected individuals as compared with the H. pylori-uninfected group. CONCLUSION: Our results demonstrate that an enhanced risk of dyslipidemia is associated with the H. pylori infection, which can aggrandize the atherosclerosis process. The evaluation of temporal variation in the lipid profile in H. pylori-infected individuals is recommended for the effective management of H. pylori-infected patients.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

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.

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

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement. METHODS: BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be included in the newborn-screened disorders. RESULTS: Using targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns. No probands having homozygous pathogenic mutations were found in the studied cohort. The variant has been frequently reported previously in homozygous state in Saudi population, making it a hot spot mutation. The current study showed that the carrier frequency of SLC19A3 gene mutation is 1 of 500 in Saudi newborns. CONCLUSION: For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level. However, a larger cohort is needed for a more accurate estimate.