Fetal alcohol spectrum disorder

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 23 Oct 2024

Last updated: 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.

Definition

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.

History and exam

Key diagnostic factors

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

Full details

Other diagnostic factors

hearing or vision impairment
poor feeding
irritability

Full details

Risk factors

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

Full details

Diagnostic tests

1st tests to order

facial photographic assessment

Full details

Tests to consider

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

Full details

Emerging tests

functional MRI
magnetic resonance spectroscopy
3-dimensional facial imaging

Treatment algorithm

ONGOING

all patients

Contributors

Authors

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

Disclosures

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

Acknowledgements

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.

Peer reviewers

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

Disclosures

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

Disclosures

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

Disclosures

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

Disclosures

DB declared no competing interests.

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Guidelines
- Fetal alcohol spectrum disorders
- Children and young people exposed prenatally to alcohol: a national clinical guideline
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Patient information
ADHD: what is it?
Fetal alcohol spectrum disorders: what is it?
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Fetal alcohol spectrum disorder

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Emerging tests

Treatment algorithm

all patients

Contributors

Authors

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

Disclosures

Acknowledgements

Peer reviewers

Albert E. Chudley, MD, FRCPC, FCCMG

Disclosures

Carol Bower, MD

Disclosures

Philip A. May, MD, PhD

Disclosures

Deborah Badawi, MD

Disclosures

Differentials

Guidelines

Patient information

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Log in or subscribe to access all of BMJ Best Practice

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