eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Neonatology

Fetal Alcohol Syndrome: Differential Diagnoses & Workup

Author: Keith K Vaux, MD, Associate Professor of Pediatrics, University of California San Diego School of Medicine; Attending Physician, Rady Children's Hospital and Health Center; Assistant Clinical Professor of Pediatrics, Uniformed Services School of the Health Sciences
Coauthor(s): Christina Chambers, MPH, PhD, Associate Professor of Pediatrics and Family and Preventive Medicine, University of California at San Diego; Assistant Professor, Graduate School of Public Health, San Diego State University
Contributor Information and Disclosures

Updated: Sep 16, 2009

Differential Diagnoses

Other Problems to Be Considered

Phenocopies
Fetal toluene embryopathy
Dubowitz syndrome
Maternal phenylketonuria (PKU)
Some cases of 22q11 deletion

Workup

Laboratory Studies

  • In patients with suspected fetal alcohol syndrome (FAS), consider chromosomal analysis to rule out unbalanced translocations or visible deletions.
  • Also consider fluorescent in-situ hybridization (FISH) of 22q11 region to rule out deletion.

Imaging Studies

  • Multiple studies have demonstrated differences in brain size and shape, especially in the parietal lobe, cerebellar vermis, corpus callosum, and caudate nucleus, as well as aberrations of growth in the frontal lobes compared to age-matched and sex-matched controls. However, each study has significant limitations, specifically study size and control ascertain.
  • Similarly, normative values for size, growth rates, and volumes of these regions have not been delineated; therefore, routine use of MRI is usually not warranted.4

More on Fetal Alcohol Syndrome

Overview: Fetal Alcohol Syndrome
Differential Diagnoses & Workup: Fetal Alcohol Syndrome
Treatment & Medication: Fetal Alcohol Syndrome
Follow-up: Fetal Alcohol Syndrome
Multimedia: Fetal Alcohol Syndrome
References
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References

  1. Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet. Nov 3 1973;2(7836):999-1001. [Medline].

  2. Gray R, Mukherjee RA, Rutter M. Alcohol consumption during pregnancy and its effects on neurodevelopment: what is known and what remains uncertain. Addiction. Aug 2009;104(8):1270-3. [Medline].

  3. Bonthius DJ, Tzouras G, Karacay B, Mahoney J, Hutton A, McKim R. Deficiency of neuronal nitric oxide synthase (nNOS) worsens alcohol-induced microencephaly and neuronal loss in developing mice. Brain Res Dev Brain Res. Sep 20 2002;138(1):45-59. [Medline].

  4. Astley SJ, Aylward EH, Olson HC, et al. Magnetic Resonance Imaging Outcomes From a Comprehensive Magnetic Resonance Study of Children With Fetal Alcohol Spectrum Disorders. Alcohol Clin Exp Res. Jul 1 2009;[Medline].

  5. Abel EL. "Moderate" drinking during pregnancy: cause for concern?. Clin Chim Acta. Mar 15 1996;246(1-2):149-54. [Medline].

  6. Abel EL. An update on incidence of FAS: FAS is not an equal opportunity birth defect. Neurotoxicol Teratol. Jul-Aug 1995;17(4):437-43. [Medline].

  7. Abel EL. Fetal alcohol syndrome: the American Paradox. Alcohol Alcohol. May-Jun 1998;33(3):195-201. [Medline].

  8. [Guideline] Bertrand J, Floyd LL, Weber MK. Guidelines for identifying and referring persons with fetal alcohol syndrome. MMWR Recomm Rep. Oct 28 2005;54:1-14. [Medline].

  9. Carmichael Olson H, Burgess DM, Streissguth AP. Fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE): A lifespan view, with implications for intervention. Zero to Three/National Center for Clinical Infant Programs;13(1):1992: 24-9.

  10. Clark CM, Li D, Conry J, et al. Structural and functional brain integrity of fetal alcohol syndrome in nonretarded cases. Pediatrics. May 2000;105(5):1096-9. [Medline].

  11. Day NL, Richardson GA. Prenatal alcohol exposure: a continuum of effects. Semin Perinatol. Aug 1991;15(4):271-9. [Medline].

  12. Flandermeyer A. The drug exposed neonate. In: Kenner C, ed. Comprehensive Neonatal Nursing: A Physiological Perspective. Philadelphia, PA: WB Saunders; 1993:997-1033.

  13. Forrest F, Florey CD, Taylor D, McPherson F, Young JA. Reported social alcohol consumption during pregnancy and infants' development at 18 months. BMJ. Jul 6 1991;303(6793):22-6. [Medline].

  14. Hoyme HE, May PA, Kalberg WO, et al. A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria. Pediatrics. Jan 2005;115(1):39-47. [Medline].

  15. Iyasu S, Randall LL, Welty TK, et al. Risk factors for sudden infant death syndrome among northern plains Indians. JAMA. Dec 4 2002;288(21):2717-23. [Medline].

  16. Jacobson SW, Chiodo LM, Sokol RJ, Jacobson JL. Validity of maternal report of prenatal alcohol, cocaine, and smoking in relation to neurobehavioral outcome. Pediatrics. May 2002;109(5):815-25. [Medline].

  17. Kavale KA, Karge BD. Fetal alcohol syndrome: A behavioral teratology. In: The Exceptional Child. Columbus, OH: Charles E. Merrill; 1986:1986: 4-16.

  18. Levy M, Koren G. Clinical toxicology of the neonate. Semin Perinatol. Feb 1992;16(1):63-75. [Medline].

  19. May PA, Brooke L, Gossage JP, et al. Epidemiology of fetal alcohol syndrome in a South African community in the Western Cape Province. Am J Public Health. Dec 2000;90(12):1905-12. [Medline].

  20. May PA, Gossage JP, White-Country M, et al. Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: the risk is relative. Am J Med Genet C Semin Med Genet. May 15 2004;127(1):10-20. [Medline].

  21. Phelps L, Grabowski J. Fetal alcohol syndrome: Diagnostic features and psychoeducational risk factors. School Psychol Q. 1992;7(2):112-28.

  22. Russell M. Clinical implications of recent research on the fetal alcohol syndrome. Bull N Y Acad Med. May-Jun 1991;67(3):207-22. [Medline].

  23. Russell M, Czarnecki DM, Cowan R, et al. Measures of maternal alcohol use as predictors of development in early childhood. Alcohol Clin Exp Res. Dec 1991;15(6):991-1000. [Medline].

  24. Sampson PD, Streissguth AP, Bookstein FL. Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder. Teratology. Nov 1997;56(5):317-26. [Medline].

  25. Shaywitz SE, Cohen DJ, Shaywitz BA. Behavior and learning difficulties in children of normal intelligence born to alcoholic mothers. J Pediatr. Jun 1980;96(6):978-82. [Medline].

  26. Sommers M. Alcohol intoxication and multiple trauma: A catastrophic combination. Med Surg Nurs Q. 1992;1:110-21.

  27. Spadoni AD, McGee CL, Fryer SL, Riley EP. Neuroimaging and fetal alcohol spectrum disorders. Neurosci Biobehav Rev. 2007;31(2):239-45. [Medline].

  28. Stratton K, Howe C, Battaglia F. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. National Academy Press; 1996.

  29. Streissguth A, LaDue R. Psychological and behavioral effects in children prenatally exposed to alcohol. Alcohol Health Res World. 1985;10:6-12.

  30. Streissguth AP, Barr HM, Sampson PD, Bookstein FL. Prenatal alcohol and offspring development: the first fourteen years. Drug Alcohol Depend. Oct 1994;36(2):89-99. [Medline].

  31. Taybi H. Handbook of Syndromes and Metabolic Disorders: Radiologic and Clinical Manifestations. Philadelphia, PA: Mosby-Year Book; 1998:71-2.

  32. Warren KR, Li TK. Genetic polymorphisms: impact on the risk of fetal alcohol spectrum disorders. Birth Defects Res A Clin Mol Teratol. Apr 2005;73(4):195-203. [Medline].

  33. West JR, Goodlett CR, Brandt JP. New approaches to research on the long-term consequences of prenatal exposure to alcohol. Alcohol Clin Exp Res. Oct 1990;14(5):684-9. [Medline].

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Further Reading

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Keywords

fetal alcohol syndrome, FAS, FAE, fetal alcohol effects, alcohol-related neurodevelopmental disorders, ARND, alcohol-related birth defects, ARBD, partial fetal alcohol syndrome, fetal alcohol spectrum disorders, FASD, dysmorphology, midfacial anomalies, growth retardation, intrauterine growth restriction, cognitive impairment, learning disabilities, impulsiveness, alcohol consumption during pregnancy, spontaneous abortion, stillbirth, sudden infant death syndrome, ethanol, acetaldehyde, maternal alcohol consumption, fetal alcohol withdrawal, neonatal alcohol withdrawal, treatment, diagnosis

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Contributor Information and Disclosures

Author

Keith K Vaux, MD, Associate Professor of Pediatrics, University of California San Diego School of Medicine; Attending Physician, Rady Children's Hospital and Health Center; Assistant Clinical Professor of Pediatrics, Uniformed Services School of the Health Sciences
Keith K Vaux, MD is a member of the following medical societies: American College of Medical Genetics and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Coauthor(s)

Christina Chambers, MPH, PhD, Associate Professor of Pediatrics and Family and Preventive Medicine, University of California at San Diego; Assistant Professor, Graduate School of Public Health, San Diego State University
Christina Chambers, MPH, PhD is a member of the following medical societies: International Society for Pharmacoepidemiology, Research Society on Alcoholism, Society for Epidemiologic Research, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

Oussama Itani, MD, FAAP, FACN, Clinical Associate Professor of Pediatrics and Human Development, Michigan State University; Medical Director, Department of Neonatology, Borgess Medical Center
Oussama Itani, MD, FAAP, FACN is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, and American Heart Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Arun K Pramanik, MD, MBBS, Professor of Pediatrics, Director of Neonatal Fellowship, Louisiana State University Health Sciences Center
Arun K Pramanik, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Carol L Wagner, MD, Professor of Pediatrics, Medical University of South Carolina
Carol L Wagner, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American Medical Women's Association, American Public Health Association, American Society for Bone and Mineral Research, American Society for Clinical Nutrition, Massachusetts Medical Society, National Perinatal Association, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Ted Rosenkrantz, MD, Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine
Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Pediatric Society, Connecticut State Medical Society, Eastern Society for Pediatric Research, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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