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


CONCLUSIONS
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.
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Majid
M
Alfadhel
King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.|Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Ali
A
Al Othaim
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Saif
S
Al Saif
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Fuad
F
Al Mutairi
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Moeenaldeen
M
Alsayed
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Zuhair
Z
Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hamad
H
Alzaidan
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mohammed
M
Alowain
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|The National Newborn Screening Program, Ministry of Health, Riyadh, Saudi Arabia.
Zuhair
Z
Al-Hassnan
Noncommunicable Disease, Ministry of Health, Riyadh, Saudi Arabia.
Mohamad
M
Saeedi
Noncommunicable Disease, Ministry of Health, Riyadh, Saudi Arabia.
Saeed
S
Aljohery
Medical Genetic Section, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia.
Ali
A
Alasmari
Medical Genetic Section, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia.
Eissa
E
Faqeih
Armed Forces Medical Services Directorate, Riyadh, Saudi Arabia.
Mansour
M
Alwakeel
Armed Forces Medical Services Directorate, Riyadh, Saudi Arabia.
Maher
M
AlMashary
Armed Forces Medical Services Directorate, Riyadh, Saudi Arabia.
Sulaiman
S
Almohameed
Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Mohammed
M
Alzahrani
Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Abeer
A
Migdad
Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE.|Children Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Osama Y
OY
Al-Dirbashi
Pharmagene Lab, Cairo, Egypt.
Mohamed
M
Rashed
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Mohamed
M
Alamoudi
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Minnie
M
Jacob
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Lujane
L
Alahaidib
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Fahd
F
El-Badaoui
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Amal
A
Saadallah
Research Center, Ministry of Health, Riyadh, Saudi Arabia.
Ayman
A
Alsulaiman
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.|Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Wafaa
W
Eyaid
Research Center, Ministry of Health, Riyadh, Saudi Arabia.|King Salman Center for Disability Research, Riyadh, Saudi Arabia.
Ali
A
Al-Odaib
D016208:Databases, Factual; D003906:Developing Countries; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000453:epidemiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000458:organization & administration*; D015397:Program Evaluation; D012189:Retrospective Studies; D018570:Risk Assessment; D012529:Saudi Arabia; D012720:Severity of Illness Index
Newborn Screening Program; Saudi Arabia; incidence; newborn screening; prevalence