Clinical Context

Prenatal alcohol exposure, which can injure the developing infant, is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities. Fetal alcohol syndrome was first described in 1973 as a specific cluster of birth defects caused by prenatal alcohol exposure, but later studies proved that such exposure leads to a wide variety of adverse developmental outcomes (fetal alcohol spectrum disorder).

Specific diagnostic criteria exist for fetal alcohol syndrome, and professional organizations are developing definitive diagnostic criteria for other fetal alcohol spectrum disorders. The American Academy of Pediatrics (AAP) issued a new clinical report on fetal alcohol spectrum disorders regarding prevention initiatives and recommended treatment approaches.

Synopsis and Perspective

A new clinical report on fetal alcohol spectrum disorders from the AAP reiterates that no amount of alcohol consumption is safe during any trimester of pregnancy.

Prenatal alcohol exposure is the top preventable cause of birth defects and intellectual and neurodevelopmental disabilities in children, according to Janet F. Williams, MD, from the University of Texas Health Science Center at the San Antonio School of Medicine and the AAP's Committee on Substance Abuse. The report was published online October 19 in Pediatrics.^[1]

"Earlier termination of alcohol use in pregnancy is associated with fewer alcohol-related complications for the mother and her baby," the authors write. "Specifically, first trimester drinking (vs no drinking) produces 12 times the odds of giving birth to a child with FASD [fetal alcohol spectrum disorder], first and second trimester drinking increases FASD odds 61 times, and drinking in all trimesters increases the FASD odds 65 times."

Despite these risks, a recent study from the US Centers for Disease Control and Prevention found that one in 10 women drink alcohol during pregnancy.^[2]

Evolving Terminology

The new report is not the first the AAP has published on the subject of alcohol and pregnancy, but the terminology used to describe fetal alcohol spectrum disorders is evolving as researchers learn more about the wide range of effects that result from prenatal alcohol exposure.

"Fetal alcohol spectrum disorder is an overarching phrase that encompasses a range of possible diagnoses, including fetal alcohol syndrome (FAS), partial fetal alcohol syndrome, alcohol-related birth defects (ARBD), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE)," the authors explain.

"[R]esearch evidence suggests that ARBD may be declining in use while ARND/ND-PAE terminology remains incompletely defined," they add. "ND-PAE may become the accepted diagnostic term for moderate PAE findings, and 'static encephalopathy' associated with PAE is a suggested diagnostic term for severe PAE effects."

Fetal alcohol syndrome is a clinical diagnosis that is made on the basis of a specific combination of prenatal and/or postnatal growth deficiency, as well as the 3 "cardinal facial features" (reduced palpebral fissure length, smooth philtrum, and thin upper vermillion lip border), and any of the known structural, neurologic, and/or functional central nervous system deficits.

What to Look For

Neurocognitive and behavioral deficits from prenatal alcohol exposure last a lifetime, but early recognition, diagnosis, and therapy for any of the fetal alcohol spectrum disorders can help.

Unfortunately, a lack of uniformly accepted diagnostic criteria for fetal alcohol-related disorders has critically limited efforts that could lessen the effect of fetal alcohol spectrum disorders, Dr Williams explained in an AAP news release. "Even though fetal alcohol spectrum disorders are the most commonly identifiable causes of developmental delays and intellectual disabilities, they remain significantly under-recognized."

The primary role of a pediatrician and the medical home with respect to fetal alcohol spectrum disorder is to learn as much as possible about the disorder to be able to counsel patients on prevention, to know when and how to screen patients for the disorder, and to manage and refer patients for specialized services.

"Medical home care relevant to FASD patients includes documenting a PAE and other substance exposure history and other historical details as well as physical examination findings, diagnosing FAS in patients when possible, and/or referring for comprehensive FASD assessment and diagnostic evaluation for intervention," the authors write.

Primary care providers should suspect fetal alcohol spectrum disorder in children with "suggestive physical stigmata" and/or those who are being evaluated for poor growth, developmental delays, or behavioral issues. Children who have been adopted, especially those who come from poverty and those with child protective services involvement, may be more likely to have experienced prenatal alcohol exposure and need careful screening.

Children with any history of involvement with child protective services resulting from parental substance use, child neglect, abuse, or abandonment also have a high risk for fetal alcohol spectrum disorder and require screening, as do children with any out-of-home or foster care placement.

The AAP offers a toolkit on fetal alcohol spectrum disorder that includes information about common diagnostic approaches, common features of children with the disorder, diagnostic tools, an algorithm for evaluation, a provider checklist, and guidelines for referral and diagnosis.^[3]

A list of frequently asked questions on fetal alcohol spectrum disorders for parents is also available online.^[4]

The authors have disclosed no relevant financial relationships.

Report Highlights

• Fetal alcohol spectrum disorders result in a major public health burden to the society, economy, educational system, family, and health or medical home.
• Alcohol-related birth defects and developmental disabilities are completely preventable when pregnant women abstain from drinking alcohol.
• During pregnancy, there is no known absolutely safe quantity, frequency, type, or timing of alcohol intake, but no prenatal alcohol exposure results in no fetal alcohol spectrum disorder.
• No amount of alcohol consumption should be considered safe during pregnancy.
• Alcohol consumption should not be considered safe during any trimester.
• The risk for fetal alcohol spectrum disorder is similar with beer, wine, liquor, and all forms of alcohol.
• Binge drinking is associated with a dose-related risk to the developing infant.
• Earlier cessation of alcohol use in pregnancy results in fewer alcohol-related complications.
• Compared with abstinence, the odds ratio of fetal alcohol spectrum disorder for first trimester drinking is 12; for first and second trimester drinking, it is 61; and for drinking throughout pregnancy, the odds of having the disorder are increased 65-fold.
• Prenatal alcohol exposure causes neurocognitive and behavioral problems that persist throughout the life span.
• For any condition on the spectrum of fetal alcohol spectrum disorder, early recognition, diagnosis, and treatment can improve outcomes.
• Despite clear evidence proving the adverse effects of prenatal alcohol exposure, many women (approximately 1 in 10) continue to drink alcohol while pregnant.
• Prevention, intervention, and treatment of fetal alcohol spectrum disorder require that the pediatrician and medical home collaborate with obstetricians, family medicine providers, and other practitioners.
• Education about fetal alcohol spectrum disorder should enable the pediatrician and medical home to advise patients about prevention and to screen, manage, and refer for specialized services as indicated.
• Pediatricians should document a history of prenatal alcohol exposure and other substance exposure and physical examination findings and diagnose fetal alcohol syndrome in patients meeting criteria.
• Criteria for fetal alcohol syndrome are the 3 cardinal facial characteristics: shorter palpebral fissure; smooth philtrum; and thin upper vermillion lip border; and any of the known structural, neurologic, and/or functional central nervous system deficits.
• Red flags warning of possible fetal alcohol spectrum disorder include suggestive physical characteristics; poor growth; developmental delays; behavioral issues; and a history of adoption, particularly from poverty and from child protective services.
• Parental substance use and child neglect, abuse, or abandonment leading to child protective services also suggest a high risk for fetal alcohol spectrum disorder.
• Primary care providers play important roles in the research progress needed to identify additional strategies to address the lifelong consequences of fetal alcohol spectrum disorders.

Clinical Implications

• Alcohol-related birth defects and developmental disabilities are completely preventable when pregnant women abstain from drinking alcohol.
• Education about fetal alcohol spectrum disorder should enable the pediatrician and medical home to advise patients about prevention and to screen, manage, and refer for specialized services as indicated.
• Implications for the Healthcare Team: Members of the healthcare team should be aware that no amount of alcohol consumption should be considered safe during pregnancy.

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