Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

被引：36

作者：

Al Hosani, H. ^{[1
]}

Salah, M. ^{[2
]}

Osman, H. M. ^{[3
]}

Farag, H. M. ^{[2
]}

El-Assiouty, L. ^{[2
]}

Saade, D. ^{[1
]}

Hertecant, J. ^{[4
]}

机构：

[1] Minist Hlth, Cent Dept Maternal & Child Hlth, Abu Dhabi, U Arab Emirates

[2] Natl Screening Ctr, Dept Genet, Abu Dhabi, U Arab Emirates

[3] Natl Screening Ctr, Natl Screening Lab, Abu Dhabi, U Arab Emirates

[4] Tawam Hosp, Dept Paediat, Abu Dhabi, U Arab Emirates

来源：

EASTERN MEDITERRANEAN HEALTH JOURNAL | 2014年 / 20卷 / 01期

关键词：

CONGENITAL ADRENAL-HYPERPLASIA; GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY; BIOTINIDASE DEFICIENCY; ALPHA-THALASSEMIA; PHENYLKETONURIA; HYPOTHYROIDISM; MUTATIONS;

D O I：

10.26719/2014.20.1.17

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and the molecular basis of positive screened cases. Screening used a combination of tandem mass spectrometry, molecular technologies and biochemical analysis. A total of 750 365 infants were screened and 717 babies saved from associated morbidity and/or mortality. The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. Coverage of neonatal screening in the population reached 95% in 2010.

引用

页码：17 / 23

页数：7

共 22 条

[1] COMPREHENSIVE NEWBORN SCREENING-PROGRAM - ARAMCO EXPERIENCE, THE NATIONAL NEED AND RECOMMENDATIONS [J].

ABUOSBA, YK ;

MALLOUH, A ;

SALAMAH, M ;

HANN, R ;

THALJI, A ;

HAMDAN, J ;

SADI, AA .

ANNALS OF SAUDI MEDICINE, 1992, 12 (03) :235-240

[2]

Al-Hosani H, 2003, East Mediterr Health J, V9, P123

[3] NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM - INCIDENCE, IMAGING, FEASIBILITY, AND DIFFICULTIES OF A NATIONWIDE PROGRAM [J].

ALNUAIM, A ;

ELDESOUKI, M ;

ALJURAYYAN, N ;

ALDERESS, A ;

ALI, M ;

SULIMANI, R ;

ALHABIB, S ;

ALSAKAIT, M ;

EISSA, M ;

ALMAZROU, Y ;

ALSWAILEM, A .

ANNALS OF SAUDI MEDICINE, 1992, 12 (02) :129-134

[4] Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns [J].

Chace, DH ;

Kalas, TA ;

Naylor, EW .

CLINICAL CHEMISTRY, 2003, 49 (11) :1797-1817

[5] Technical standards and guidelines for the diagnosis of biotinidase deficiency [J].

Cowan, Tina M. ;

Blitzer, Miriam G. ;

Wolf, Barry .

GENETICS IN MEDICINE, 2010, 12 (07) :464-470

[6] CONSANGUINITY AMONG THE SAUDI-ARABIAN POPULATION [J].

ELHAZMI, MAF ;

ALSWAILEM, AR ;

WARSY, AS ;

ALSWAILEM, A ;

SULAIMANI, R ;

ALMESHARI, AA .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (08) :623-626

[7]

Harvey L, 2007, MOL GENET METAB, V92, P287

[8] NEONATAL SCREENING FOR PHENYLKETONURIA .1. EFFECTIVENESS [J].

HOLTZMAN, NA ;

MEEK, AG ;

MELLITS, ED .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1974, 229 (06) :667-670

[9] Mutations in BTD causing biotinidase deficiency [J].

Hymes, J ;

Stanley, CM ;

Wolf, B .

HUMAN MUTATION, 2001, 18 (05) :375-381

[10] Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency [J].

Kösel, S ;

Burggraf, S ;

Fingerhut, R ;

Dörr, HG ;

Roscher, AA ;

Olgemöller, B .

CLINICAL CHEMISTRY, 2005, 51 (02) :298-304

← 1 2 3 →