Fetal alcohol spectrum disorder

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Última revisão: 19 Jun 2025

Última atualização: 20 Apr 2023

Fetal alcohol spectrum disorder (FASD) is considered a spectrum of disorders that includes FASD with and without sentinel facial features, fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects.

Caused by fetal exposure to alcohol during pregnancy (prenatal alcohol exposure).

Early diagnosis may prevent secondary disabilities, but many clinicians are unaware of, or are confused by, existing diagnostic criteria and terminology.

Management involves identifying and working with a child's specific strengths and needs; however, there is a paucity of evidence for efficacy of specific treatments.

Prevention is a priority, as brain injury sustained in utero is permanent and is associated with severe physical, behavioral, learning, and mental health problems.

Definição

Fetal alcohol spectrum disorder (FASD) refers to group of conditions that may result from fetal exposure to alcohol.[1] Disorders include fetal alcohol syndrome (FAS), partial FAS, alcohol-related neurodevelopmental disorder (ARND), alcohol-related birth defects (ARBD), and FASD with and without sentinel facial features. FAS is characterized by severe neurodevelopmental impairment, which may be associated with prenatal and postnatal growth retardation, specific facial dysmorphology, and structural abnormalities of the CNS. This topic primarily addresses FASD in children.

História e exame físico

Principais fatores diagnósticos

gestation <37 weeks
low height, weight, head circumference
characteristic facial dysmorphology
presence of birth defects
developmental delay and behavioral problems
mental health problems
sibling with similar symptoms

Detalhes completos

Outros fatores diagnósticos

hearing or vision impairment
poor feeding
irritability

Detalhes completos

Fatores de risco

maternal alcohol intake during pregnancy
current maternal alcohol intake
higher parity/gravidity
higher birth order of child
maternal ADH1B*1/ADH1B*3 or ADH1B*1/ADH1B*1 genotype
longer history of maternal alcohol consumption
increasing maternal age
decreased maternal weight, height, and head circumference
maternal tobacco use during pregnancy
low maternal socioeconomic status
maternal family history of alcohol consumption
maternal Indigenous ethnicity

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

facial photographic assessment

Detalhes completos

Investigações a serem consideradas

prenatal ultrasonography of fetus
ECG
echocardiogram
EEG
MRI/CT head
renal ultrasonography
skeletal x-ray
screening blood tests
chromosome microarray

Detalhes completos

Novos exames

functional MRI
magnetic resonance spectroscopy
3-dimensional facial imaging

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP

Professor of Paediatrics and Child Health

Faculty of Medicine and Health

University of Sydney

Consultant Paediatrician

The Children's Hospital at Westmead

Sydney

Director

Australian Paediatric Surveillance Unit

Head, New South Wales Fetal Alcohol Spectrum Disorder Assessment Servicer

Westmead

Australia

Declarações

EE is an author of a number of references cited in this monograph but has no other competing interests.

Agradecimentos

Professor Elizabeth Elliott would like to gratefully acknowledge Dr Elizabeth Peadon, a previous contributor to this monograph. EP is an author of a number of references cited in this monograph.

Revisores

Albert E. Chudley, MD, FRCPC, FCCMG

Medical Director

Program in Genetics and Metabolism

Professor

Department of Pediatrics and Child Health

University of Manitoba

Winnipeg

Canada

Declarações

AEC has been paid an honorarium and consulting fees for the development of screening tools for identifying individuals at risk for FASD in Canada. AEC is an author of a number of references cited in this monograph.

Carol Bower, MD

Clinical Professor

Senior Principal Research Fellow

Telethon Institute for Child Health Research

Centre for Child Health Research

The University of Western Australia

Perth

Australia

Declarações

CB is an author of a number of references cited in this monograph, and sometimes collaborates with the authors.

Philip A. May, MD, PhD

Professor of Sociology

Professor of Family and Community Medicine

The University of New Mexico

Albuquerque

Declarações

PAM is an author of a number of references cited in this monograph.

Deborah Badawi, MD

Assistant Professor of Pediatrics

Division Head, Developmental-Behavioral Pediatrics

University of Maryland School of Medicine

Baltimore

Declarações

DB declared no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet. 1973 Nov 3;302(7836):999-1001. Resumo

Carson G, Cox LV, Crane J, et al.; Society of Obstetricians and Gynaecologists of Canada. Alcohol use and pregnancy consensus clinical guidelines. J Obstet Gynaecol Can. 2010 Aug;32(8 suppl 3):S1-31. Resumo

Astley SJ. Diagnostic guide for fetal alcohol spectrum disorders: the 4-digit diagnostic code. 3rd ed. Seattle, WA: University of Washington; 2004.Texto completo

Cook JL, Green CR, Lilley CM, et al. Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan. CMAJ. 2016 Feb 16;188(3):191-7.Texto completo Resumo

Streissguth AP, Bookstein FL, Barr HM, et al. Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. J Dev Behav Pediatr. 2004 Aug;25(4):228-38. Resumo

Koren G, Sarkar M, Rosenbaum C, et al. The maternal drinking history guide: development of a national educational tool. J Popul Ther Clin Pharmacol. 2013;20(1):e42-3. Resumo

Sarkar M, Burnett M, Carriere S, et al. Screening and recording of alcohol use among women of child-bearing age and pregnant women. Can J Clin Pharmacol. 2009 Winter;16(1):e242-63. Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Fetal hydantoin syndrome
- Fetal valproate syndrome
- Toluene embryopathy
Mais Diagnósticos diferenciais
Diretrizes
- Fetal alcohol spectrum disorders
- Children and young people exposed prenatally to alcohol: a national clinical guideline
Mais Diretrizes
Folhetos informativos para os pacientes
ADHD: what is it?
Fetal alcohol spectrum disorders: what is it?
Mais Folhetos informativos para os pacientes
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Fetal alcohol spectrum disorder

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Novos exames

Algoritmo de tratamento

all patients

Colaboradores

Autores

Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP

Declarações

Agradecimentos

Revisores

Albert E. Chudley, MD, FRCPC, FCCMG

Declarações

Carol Bower, MD

Declarações

Philip A. May, MD, PhD

Declarações

Deborah Badawi, MD

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Folhetos informativos para os pacientes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se para acessar todo o BMJ Best Practice