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Fetal alcohol spectrum disorder

Last reviewed: 19 Aug 2025
Last updated: 20 Apr 2023

Summary

Definition

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
Elizabeth Elliott

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

利益声明

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

利益声明

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

NM

利益声明

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

MD

利益声明

DB declared no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

参考文献

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

关键文献

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

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. 摘要

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

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.全文  摘要

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. 摘要

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. 摘要

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. 摘要

参考文献

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