RESUMO
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.
Assuntos
Doenças do Recém-Nascido/diagnóstico , Programas de Rastreamento/organização & administração , Programas Nacionais de Saúde/organização & administração , Triagem Neonatal/organização & administração , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Masculino , Desenvolvimento de Programas , Emirados Árabes Unidos/epidemiologiaRESUMO
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
RESUMO
This study assessed the knowledge and practices about folic acid in pregnancy among pregnant women attending 2 main maternal and child health centres in Abu Dhabi. The majority of the 277 interviewed mothers (79.1%) had heard of folic acid and 46.6% had accurate knowledge about the role of folate in preventing neural tube defects. There were good practices regarding folate supplementation in the current pregnancy; most of the interviewed mothers took it daily and in the recommended dose. However, only a minority took it prior to pregnancy. Education, irrespective of age or parity, was the major factor determining better knowledge of folic acid in pregnancy.
Assuntos
Atitude Frente a Saúde , Ácido Fólico/uso terapêutico , Conhecimentos, Atitudes e Prática em Saúde , Defeitos do Tubo Neural/prevenção & controle , Gestantes/psicologia , Complexo Vitamínico B/uso terapêutico , Adulto , Escolaridade , Comportamento Alimentar , Feminino , Humanos , Modelos Logísticos , Paridade , Cuidado Pré-Concepcional , Gravidez , Cuidado Pré-Natal , Automedicação , Inquéritos e Questionários , Emirados Árabes Unidos , População UrbanaRESUMO
This study assessed the knowledge and practices about folic acid in pregnancy among pregnant women attending 2 main maternal and child health centres in Abu Dhabi. The majority of the 277 interviewed mothers [79.1%] had heard of folic acid and 46.6% had accurate knowledge about the role of folate in preventing neural tube defects. There were good practices regarding folate supplementation in the current pregnancy; most of the interviewed mothers took it daily and in the recommended dose. However, only a minority took it prior to pregnancy. Education, irrespective of age or parity, was the major factor determining better knowledge of folic acid in pregnancy
Assuntos
Educação em Saúde , Ácido Fólico , Gravidez , Paridade , Conhecimentos, Atitudes e Prática em SaúdeRESUMO
In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates (UAE) in 3 districts of Abu Dhabi emirate. This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% (0.07% for UAE citizens and 0.02% for non-UAE citizens). The incidence of sickle cell trait was 1.1% overall (1.5% for UAE citizens and 0.8% for non-UAE citizens). Universal neonatal screening for sickle cell haemoglobin at the national level should be considered.
Assuntos
Anemia Falciforme , Testes Genéticos , Hemoglobinopatias , Triagem Neonatal , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Coeficiente de Natalidade , Cromatografia Líquida de Alta Pressão , Seguimentos , Aconselhamento Genético , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Necessidades e Demandas de Serviços de Saúde , Doença da Hemoglobina C/diagnóstico , Doença da Hemoglobina C/epidemiologia , Doença da Hemoglobina C/genética , Hemoglobina E , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/genética , Hemoglobinas Anormais , Heterozigoto , Humanos , Incidência , Recém-Nascido , Triagem Neonatal/métodos , Triagem Neonatal/estatística & dados numéricos , Projetos Piloto , Vigilância da População , Diagnóstico Pré-Natal , Características de Residência/estatística & dados numéricos , Fatores de Risco , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Traço Falciforme/genética , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/genética , Emirados Árabes Unidos/epidemiologiaRESUMO
The National Congenital Anomalies Register is a population-based register covering all births in the United Arab Emirates. We evaluated the progress of the register and determined the prevalence of congenital anomalies (CAs) and associated maternal and neonatal risk factors. Total prevalence of CAs for 1999-2001 was 7.89/1000, 10.95/1000 and 7.92/1000 for live births, stillbirths and total births respectively. Rates were comparable to international rates for all districts except Dubai, Fujairah and Ras Al Khaimah. According to the International classification of diseases, the cardiovascular system was the most affected followed by CAs of chromosomal origin and the musculo-skeletal system. Birth defects were more common with older maternal age, grand multiparity, male babies, low-birth-weight babies and premature babies.
Assuntos
Anormalidades Congênitas/epidemiologia , Vigilância da População , Sistema de Registros , Distribuição por Idade , Coeficiente de Natalidade , Peso ao Nascer , Aberrações Cromossômicas/estatística & dados numéricos , Anormalidades Congênitas/classificação , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Consanguinidade , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Classificação Internacional de Doenças , Masculino , Idade Materna , Paridade , Vigilância da População/métodos , Gravidez , Resultado da Gravidez/epidemiologia , Prevalência , Prevenção Primária , Características de Residência , Fatores de Risco , Distribuição por Sexo , Natimorto/epidemiologia , Emirados Árabes Unidos/epidemiologiaRESUMO
The National Congenital Anomalies Register is a population-based register covering all births in the United Arab Emirates. We evaluated the progress of the register and determined the prevalence of congenital anomalies [CAs] and associated maternal and neonatal risk factors. Total prevalence of CAs for 1999-2001 was 7.89/1000, 10.95/1000 and 7.92/1000 for live births, stillbirths and total births respectively. Rates were comparable to international rates for all districts except Dubai, Fujairah and Ras Al Khaimah. According to the International classification of diseases, the cardiovascular system was the most affected followed by CAs of chromosomal and the musculo-skeletal system. Birth defects were more common with older maternal age, gr and multiparity, male babies, low-birth-weight babies and premature babies
Assuntos
Distribuição por Idade , Coeficiente de Natalidade , Peso ao Nascer , Aberrações Cromossômicas , Consanguinidade , Idade Gestacional , Anormalidades CongênitasRESUMO
In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates [UAE] in 3 districts of Abu Dhabi emirate. This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% [0.07% for UAE citizens and 0.02% for non-UAE citizens]. The incidence of sickle cell trait was 1.1% overall [1.5% for UAE citizens and 0.8% for non-UAE citizens]. Universal neonatal screening for sickle cell haemoglobin at the national level should be considered
Assuntos
Coeficiente de Natalidade , Cromatografia Líquida , Seguimentos , Aconselhamento Genético , Doença da Hemoglobina C , Anemia FalciformeRESUMO
A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients (8 females, 17 males), age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization (FISH) when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies.
Assuntos
Aberrações Cromossômicas/diagnóstico , Aberrações Cromossômicas/genética , Ossos Faciais/anormalidades , Crânio/anormalidades , Adolescente , Adulto , Antropometria , Criança , Pré-Escolar , Aberrações Cromossômicas/prevenção & controle , Transtornos Cromossômicos , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Egito , Ossos Faciais/diagnóstico por imagem , Feminino , Aconselhamento Genético , Testes Genéticos/métodos , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Pessoa de Meia-Idade , Linhagem , Radiografia , Crânio/diagnóstico por imagemRESUMO
A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH] when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies
