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

Alfadhel, Majid; Othaim, Ali Al; Saif, Saif Al; Mutairi, Fuad Al; Al-Sayed, Moeenaldeen; Rahbeeni, Zuhair; Alzaidan, Hamad; Al‐Owain, Mohammed; Al‐Hassnan, Zuhair N.; Saeedi, Mohamad Y.; Aljohery, Saeed; Alasmari, Ali; Faqeih, Eissa; Al-Wakeel, M; Almashary, Maher A.; Almohameed, Sulaiman; Alzahrani, Mohammed; Migdad, Abeer; Al-Dirbashi, Osama Y.; Rashed, Mohamed S.; Al-Amoudi, Mohamed; Jacob, Mohan V.; Al-Ahaidib, Lujane Y.; Elbadaoui, Fahd; Saadallah, Amal; Alsulaiman, Ayman; Eyaid, Wafaa; Al‐Odaib, Ali

doi:10.1111/jpc.13469

Cited by 85 publications

(86 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Saudi Arabia is close to the PKU incidence of Japan at 1 : 14,623 [6] and UAE 1 : 12,369 [17]. On the other hand, the incidence rate among Caucasians in North America (1 : 10,000) is lower than those reported for Japan and China [49].…”

Section: Discussionmentioning

confidence: 91%

“…In some of the prevalence/incidence studies, prevalence was self-calculated in 9 articles and corrected in 11 articles. Prevalence/incidence studies were further categorized to the type of study whether it was a national NBS program ( n = 5 articles) [6, 15–18], regional/governorate NBS program ( n = 6 articles) [19–24], selective screening for newborns ( n = 6 articles) [25–30], selective screening of sick/symptomatic newborns and/or infants, children, and adults ( n = 9 articles) [31–39], selective screening for both newborns and sick/symptomatic newborns and/or infants, children, and adults ( n = 4 articles) [40–43], or selective screening for sick/symptomatic children and adults from institutions for mentally challenged ( n = 3 articles) [44–46]. In addition, a study conducted in Turkey addressed PKU prevalence among newborns, sick/symptomatic subjects, and mentally challenged individuals.…”

Section: Resultsmentioning

confidence: 99%

“…The first NBS program emerged in the United States in the early 1960s [4] and became universal in most developed countries [5]. With the use of state-of-the-art detection methods such as tandem mass spectrometry, PKU can be diagnosed readily in blood specimens collected by heel-prick from newborns, 24 hours of age, and spotted onto a filter paper that contains all their demographic information [6]. …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

El-Metwally

Al-Ahaidib

Sunqurah

et al. 2018

BioMed Research International

View full text Add to dashboard Cite

Background/Objectives This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. Conclusion The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

show abstract

Section: Discussionmentioning

confidence: 91%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

El-Metwally

Al-Ahaidib

Sunqurah

et al. 2018

BioMed Research International

View full text Add to dashboard Cite

show abstract

“…3,4 The incidence reported in previous pilot studies in Saudi Arabia for the period 1995-1998 was 1:1381, 1 and for the year 2000, the incidence was 1:690 (personal experience). 2 It is important to implement a good legislative system and education for public, medical professionals and legislators, with the establishment of an integrated infrastructure with policies and guidelines and financial and legislative support prior to establishing nationwide newborn screening (NBS).…”

mentioning

confidence: 96%

Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?

Aqeel

2017

J Paediatrics Child Health

View full text Add to dashboard Cite

“…The wide variation in the incidence is caused by many factors such as the environment, ethnicity, detection criteria for IEMs and the sample source. In the Arab region, the high incidence of IEMs has been explained by the high rates of consanguineous marriages …”

Section: Discussionmentioning

confidence: 99%

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Guo

Zhang

et al. 2020

Clinical Laboratory Analysis

View full text Add to dashboard Cite

Abbreviations: HPA, hyperphenylalaninemia; IEM, inborn errors of metabolism; IVA, isovaleric academia; MMA, methylmalonic academia; MS/MS, tandem mass spectrometry; MSUD, maple syrup urine disease; PCD, primary carnitine deficiency; SCAD, short-chain acyl-CoA dehydrogenase deficiency. AbstractBackground: Tandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism. The aim of this study was to determine the birth incidence of inborn errors of metabolism through expanded screening of newborns by tandem mass spectrometry in Xinxiang area.Methods: Dried blood spots from 50 112 newborns were assessed for inborn errors of metabolism by tandem mass spectrometry. The diagnoses were confirmed based on the clinical features, conventional laboratory tests, and the organic acid levels tested in urine by gas chromatography-mass spectrometry. Results:The study findings revealed that 31 newborns were diagnosed with inborn errors of metabolism. The total incidence rate of inborn errors of metabolism was 1/1617, and these included 16 cases of amino acid disorders (51.6%), nine cases of organic acid disorders (29.0%), and 6 (19.4%) cases of fatty acid beta-oxidation disorders. Conclusions:The screening for the incidence of inborn errors of metabolism in Xinxiang area showed that the rate was higher than previously reported. This study provides valuable data which may be useful in facilitating improvements in the expansion of screening to enable early diagnosis and treatment of inborn errors of metabolism before the onset of symptoms. K E Y W O R D S amino acid disorders, fatty acid beta-oxidation disorders, inborn errors of metabolism, organic acid disorders, tandem mass spectrometry S U PP O RTI N G I N FO R M ATI O N Additional supporting information may be found online in the Supporting Information section.

show abstract

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

Abstract: 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.

Cited by 85 publications

References 31 publications

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Contact Info

Product

Resources

About