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

被引：72

作者：

Alfadhel, Majid ^{[1
,3
,4
]}

Al Othaim, Ali ^{[2
,3
,4
]}

Al Saif, Saif ^{[1
,3
,4
]}

Al Mutairi, Fuad ^{[1
,3
,4
]}

Alsayed, Moeenaldeen ^{[5
]}

Rahbeeni, Zuhair ^{[5
]}

Alzaidan, Hamad ^{[5
]}

Alowain, Mohammed ^{[5
]}

Al-Hassnan, Zuhair ^{[5
,7
]}

Saeedi, Mohamad ^{[8
]}

Aljohery, Saeed ^{[8
]}

Alasmari, Ali ^{[9
]}

Faqeih, Eissa ^{[9
]}

Alwakeel, Mansour ^{[10
]}

AlMashary, Maher ^{[10
]}

Almohameed, Sulaiman ^{[10
]}

Alzahrani, Mohammed ^{[11
]}

Migdad, Abeer ^{[11
]}

Al-Dirbashi, Osama Y. ^{[13
,14
]}

Rashed, Mohamed ^{[15
]}

Alamoudi, Mohamed ^{[6
]}

Jacob, Minnie ^{[6
]}

Alahaidib, Lujane ^{[6
]}

El-Badaoui, Fahd ^{[6
]}

Saadallah, Amal ^{[6
]}

Alsulaiman, Ayman ^{[6
]}

Eyaid, Wafaa ^{[1
,3
,4
]}

Al-Odaib, Ali ^{[6
,12
]}

机构：

[1] King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pediat, Riyadh, Saudi Arabia

[2] King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pathol, Riyadh, Saudi Arabia

[3] King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia

[4] King Faisal Specialist Hosp & Res Ctr, Minist Natl Guard Hlth Affairs NGHA, Riyadh, Saudi Arabia

[5] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

[6] King Faisal Specialist Hosp & Res Ctr, Res Ctr, Riyadh, Saudi Arabia

[7] Minist Hlth, Natl Newborn Screening Program, Riyadh, Saudi Arabia

[8] Minist Hlth, Noncommunicable Dis, Riyadh, Saudi Arabia

[9] Childrens Hosp, King Fahad Med City, Med Genet Sect, Riyadh, Saudi Arabia

[10] Secur Forces Hosp, Armed Forces Med Serv Directorate, Riyadh, Saudi Arabia

[11] Secur Forces Hosp, Dept Pediat, Riyadh, Saudi Arabia

[12] King Salman Ctr Disabil Res, Riyadh, Saudi Arabia

[13] United Arab Emirates Univ, Fac Med & Hlth Sci, Al Ain, U Arab Emirates

[14] Children Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada

[15] Pharmagene Lab, Cairo, Egypt

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2017年 / 53卷 / 06期

关键词：

incidence; newborn screening; Newborn Screening Program; prevalence; Saudi Arabia; TANDEM MASS-SPECTROMETRY; CONGENITAL HYPOTHYROIDISM; INBORN-ERRORS; BLOOD SPOTS; AMINO-ACIDS; METABOLISM; EXPERIENCE; DIAGNOSIS; SUCCINYLACETONE; IDENTIFICATION;

D O I：

10.1111/jpc.13469

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：585 / 591

页数：7

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