Fetal Alcohol Syndrome

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Chapter 207 Fetal Alcohol Syndrome

INTRODUCTION

Description: Fetal alcohol syndrome is characterized by malformations found in infants born to mothers who have consumed alcohol during pregnancy. Abnormalities include structural malformations (predominantly facial), growth restriction, and neurologic abnormalities including mental retardation.
Prevalence: Estimates vary from 6 of 10,000 births (1993) to 2 of 1000 births (2000). Studies by the Centers for Disease Control and Prevention show fetal alcohol syndrome rates ranging from 0.2 to 1.5 per 1000 live births in different areas of the United States.
Predominant Age: Reproductive for mothers, infants diagnosed at birth.
Genetics: No genetic pattern.

ETIOLOGY AND PATHOGENESIS

Causes: Alcohol consumption during pregnancy (generally >3 oz/day). There does not appear to be a lower limit of safety, nor are the effects confined to one part of pregnancy. The severity of the effects does appear to be proportional to the amount and duration of exposure. Clinically identifiable effects are generally not seen with sporadic exposures of less than 1 oz of alcohol per day, although absolute safety cannot be assured even at this dose.
Risk Factors: Alcohol use during pregnancy.

CLINICAL CHARACTERISTICS

Signs and Symptoms

• Facial deformities—microcephaly, short palpebral fissures, flat midface, underdeveloped philtrum and thinned upper lip; low nasal bridge, epicanthal folds, minor ear anomalies, small teeth with faulty enamel, foreshortened nose and micrognathia may also be seen; two or more abnormal facial features must be present to make the diagnosis
• Cardiac malformations
• Deformities of joints, limbs, and fingers
• Vision difficulties including nearsightedness (myopia)
• Intrauterine and extrauterine growth restriction
• Mental retardation and developmental abnormalities, brain and spinal defects
• Abnormal behavior such as short attention span, hyperactivity, poor impulse control, extreme nervousness, and anxiety

DIAGNOSTIC APPROACH

Differential Diagnosis

• Other chromosomal or congenital syndromes

Associated Conditions: Maternal—other substance abuse (tobacco, drugs), sexually transmitted disease. Fetal—dental caries, cardiac defects, and ophthalmic problems (vision correction often necessary).

Workup and Evaluation

Laboratory: No evaluation indicated.
Imaging: Ultrasonography may be used to assess fetal growth and development. Some cardiac anomalies may be detected while in utero; absence does not exclude effects.
Special Tests: None indicated.
Diagnostic Procedures: History (maternal) and physical examination of newborn.

Pathologic Findings

None.

MANAGEMENT AND THERAPY

Nonpharmacologic

General Measures: For the mother—counseling, alco-hol and substance abuse programs. For the fetus—evaluation, special education and support, surveillance for dental caries (more common in these children) and cardiac and ophthalmic problems.
Specific Measures: None.
Diet: Reduction or elimination of alcohol for the duration of pregnancy.
Activity: No restriction.
Patient Education: Diet and alcohol counseling; American College of Obstetricians and Gynecologists Patient Education Pamphlet AP132 (Alcohol and Pregnancy), AP104 (Drugs and Pregnancy).

Drug(s) of Choice

None.

FOLLOW-UP

Patient Monitoring: Normal health maintenance, surveillance for dental caries (more common in these children) and cardiac and ophthalmic problems.
Prevention/Avoidance: Reduction or elimination of alcohol use during pregnancy. No safe level of exposure has been demonstrated, although sporadic use of less than 1 oz of alcohol per day has not been associated with the syndrome.
Possible Complications: Higher rate of spontaneous miscarriage in heavy users of alcohol.
Expected Outcome: Infants affected by fetal alcohol syndrome vary from mildly to profoundly mentally retarded. Similarly, structural anomalies are variable but lifelong.

MISCELLANEOUS

ICD-9-CM Code: 760.71.

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REFERENCES

Level I

Chang G, McNamara TK, Orav EJ, et al. Brief intervention for prenatal alcohol use: a randomized trial. Obstet Gynecol. 2005;105:991.

Level II

Floyd RL, Sobell M, Velasquez MM, et alThe Project CHOICES Efficacy Study Group. Preventing alcohol-exposed pregnancies: a randomized controlled trial. Am J Prev Med. 2007;32:1.

Henderson J, Gray R, Brocklehurst P. Systematic review of effects of low-moderate prenatal alcohol exposure on pregnancy outcome. BJOG. 2007;114:243. Epub 2007 Jan 12

May PA, Gossage JP. Estimating the prevalence of fetal alcohol syndrome: a summary. Alcohol Res Health. 2001;25:159.

Level III

American College of Obstetricians and Gynecologists. Intrauterine growth restriction. ACOG Practice Bulletin 12. Washington, DC: ACOG, 2000.

American College of Obstetricians and Gynecologists. At-risk drinking and illicit drug use: ethical issues in obstetric and gynecologic practice. ACOG Committee Opinion 294. Obstet Gynecol. 2004;103:1021.

American College of Obstetricians and Gynecologists. Psychosocial risk factors: perinatal screening and intervention. ACOG Committee Opinion 343. Obstet Gynecol. 2006;108:469.

Astley SJ, Clarren SK. A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome. J Pediatr. 1996;129:33.

Chudley AE, Conry J, Cook JL, et alPublic Health Agency of Canada’s National Advisory Committee on Fetal Alcohol Spectrum Disorder. Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. CMAJ. 2005;172:S1.

Clarren SK, Smith DW. The fetal alcohol syndrome. N Engl J Med. 1978;298:1063.

Floyd RL, O’Connor MJ, Sokol RJ, et al. Recognition and prevention of fetal alcohol syndrome. Obstet Gynecol. 2005;106:1059.

O’Connor MJ, Whaley SE. Brief intervention for alcohol use by pregnant women. Am J Public Health. 2007;97:252. Epub 2006 Dec 28

Roman PM. Biological features of women’s alcohol use: a review. Public Health Rep. 1988;103:628.

Warren KR, Bast RJ. Alcohol-related birth defects: an update. Public Health Rep. 1988;103:638.

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