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Published on: June 25, 2010
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes
Tala Jamaleddin1, Karen El-Akouri2,3, Sumaya Abiib1
1Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Insights
Newborn screening in Qatar detected inborn errors of metabolism (IEMs) in 1:1105 infants. Classical Homocystinuria was most common, highlighting the need for targeted screening strategies.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- Newborn screening is vital for early detection of inborn errors of metabolism (IEMs) to prevent severe health complications.
- Timely identification of IEMs is critical as many conditions are asymptomatic at birth.
Purpose of the Study:
- To investigate the incidence of IEMs within the Qatar National Newborn Screening Program.
- To analyze demographic correlations and assess the diagnostic yield of screening tests.
Main Methods:
- Retrospective analysis of 351,223 newborns screened between 2010 and 2023.
- Calculation of IEM incidence, correlation with demographics, consanguinity, and family history.
- Assessment of diagnostic yield for various screening tests.
Main Results:
- Identified 318 positive IEM cases, with an overall incidence of 1:1105 in Qatar.
- Classical Homocystinuria (1:6754) was the most frequent IEM, linked to the CBS gene founder variant.
- Aminoacidopathies were the most prevalent category; genetic testing showed a 90% diagnostic yield.
Conclusions:
- This study establishes IEM incidence rates in Qatar.
- Findings offer insights for developing strategies to reduce IEM incidence and improve newborn outcomes.
Background:
Newborn screening is an essential public health strategy that aims to detect a range of conditions, including inborn errors of metabolism, in neonates shortly after birth. The timely identification is crucial due to the asymptomatic nature of many conditions at birth, but which can lead to significant health complications if left untreated. Through this study, we aimed to investigate the incidence of IEMs screened by the Qatar National Newborn Screening Program.
Methods:
We retrospectively analyzed a total of 351,223 newborns screened from 2010 to 2023. The incidence for the studied IEMs was calculated and correlated with demographics, consanguinity, and family history. In addition, the diagnostic yield of different tests utilized was assessed.
Results:
Our study revealed a total of 318 positive cases with IEMs, and a significantly high incidence of 1:1105 for IEMs in Qatar. Classical Homocystinuria was the most frequently detected condition, with a cumulative incidence of 1:6754 live births, linked to the founder variant p. Arg336Cys in the CBS gene. Aminoacidopathies were the most prevalent category, followed by fatty acid oxidation disorders, organic acidurias, biotinidase deficiency, and urea cycle disorders. Genetic testing showed a high diagnostic yield of 90%. Of the 60 cases that underwent targeted variant testing, 98% were confirmed, while 90% of the 59 cases tested by single gene testing were confirmed.
Conclusions:
Our study provides the incidence rates of IEMs in Qatar and novel insights that could facilitate setting up/developing IEM incidence-reducing strategies and improving outcomes for affected newborns and their families.
