• Bertrand J, Floyd LL, Weber MK. Guidelines for identifying and referring persons with fetal alcohol syndrome. MMWR Recomm Rep 2005 Oct 28;54(RR-11):1-14. PubMed



• National Task Force on FAS/FAE. Bertrand J, Floyd RL, Weber MK, O'Connor M, Riley EP, Johnson KA, Cohen DE. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta (GA): Centers for Disease Control and Prevention (CDC); 2004 Jul. 50 p. [217 references]

Note from the National Guideline Clearinghouse (NGC): A summary of the guideline recommendations presented below are also available in the October 28, 2005 Morbidity and Mortality Weekly Report (MMWR) published by the Centers for Disease Control and Prevention (CDC).

Diagnostic and Referral Framework

The Framework for Fetal Alcohol Syndrome (FAS) Diagnosis and Services (see Figure I in the original guideline document) reflects the Centers for Disease Control and Prevention's (CDC's) recommendation that developmental screening be implemented to improve children's health and help them reach their full potential. A discussion of the major points of the framework follows.

Initial identification. Initial recognition that a child or older individual has a potential problem can come from many sources. Often, parents notice differences between a child and his or her siblings. School systems, including Head Start and daycare staff, interact with a large number of children and often recognize when someone is having difficulty. Social service professionals, such as Women, Infants & Children (WIC) clinic staff, social workers, and foster care agencies frequently recognize children and individuals having difficulty and needing evaluation. And finally, health-care providers (particularly pediatricians) often are the first to screen for and detect problems; or obstetricians, who might be aware of a maternal substance abuse problem, might refer a newborn. Recognition of many of the problems associated with FAS is exactly the type of condition the "well child" visits to the doctor's office are meant to identify. It is assumed that triggers, such as facial abnormalities, growth delay, developmental problems, or maternal alcohol use, will emerge from the contact. Recognition of a potential problem should lead the provider, regardless of specific profession, to facilitate getting the person and his or her family to the appropriate next step.

Referral. The referral process is initiated at the point a clinician starts to have suspicions of an alcohol-related disorder for a child. This process is facilitated by thorough knowledge of the physical and neurodevelopmental domains affected in individuals with FAS, as well as characteristics that could trigger a referral. In making a referral for a complete diagnostic evaluation for FAS, it is helpful for the referring provider to gather and document specific data related to the FAS criteria. These data will assist the provider in making the decision to diagnose the child or to refer the child to a multidisciplinary evaluation team for a confirmed diagnosis. In addition, these data could be forwarded to the multidisciplinary evaluation team to guide the diagnostic process. A complete review of systems, noting features consistent with FAS, would be most productive.

Diagnosis. At this stage, the child would be presented to a multidisciplinary team who would engage in a more thorough assessment of the child using FAS diagnostic procedures to evaluate dysmorphia and growth parameters, as well as obtain appropriate neurodevelopmental evaluation data. Once a diagnosis is made, an intervention plan would be developed using a multidisciplinary team approach. A variety of specialists could contribute to the multidisciplinary team, including dysmorphologists, developmental pediatricians, psychiatrists, psychologists, social workers, and educational specialists. Other clinicians, such as pediatricians and family practitioners, also might make the FAS diagnosis, with appropriate training in use of these guidelines. In many rural and less populated regions, these clinicians must make the diagnosis for many types of birth defects and developmental disabilities. Many of these evaluation services are available within the community setting, for example school systems could provide neurocognitive assessments.

Diagnostic Criteria

Note: Refer to the original guideline document for further explanation of each criteria.

Facial dysmorphia

Based on racial norms, individual exhibits all three characteristic facial features:

• Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5)
• Thin vermillion (University of Washington Lip-Philtrum Guide rank 4 or 5)
• Small palpebral fissures (at or below 10th percentile)

Growth problems

Confirmed prenatal or postnatal height or weight, or both, at or below the 10th percentile, documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity).

Central Nervous System (CNS) Abnormalities

1. Structural
   1. Head circumference (OFC) at or below the 10th percentile adjusted for age and sex.
   2. Clinically significant brain abnormalities observable through imaging.
2. Neurological

   Neurological problems not due to a postnatal insult or fever, or other soft neurological signs outside normal limits.

3. Functional

   Performance substantially below that expected for an individual's age, schooling, or circumstances, as evidenced by:

   1. Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean for standardized testing)

      Or

   2. Functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in at least three of the following domains:
      1. cognitive or developmental deficits or discrepancies
      2. executive functioning deficits
      3. motor functioning delays
      4. problems with attention or hyperactivity
      5. social skills
      6. other, such as sensory problems, pragmatic language problems, memory deficits, etc.

Note: These guidelines strongly recommend that functional domains be assessed using norm-referenced standardized measures. Domains should be assessed by appropriate professionals using reliable and validated instruments.

Maternal Alcohol Exposure

1. Confirmed prenatal alcohol exposure requires documentation of the alcohol consumption patterns of the birth mother during the index pregnancy based on clinical observation; self-report; reports of heavy alcohol use during pregnancy by a reliable informant; medical records documenting positive blood alcohol levels, or alcohol treatment; or other social, legal, or medical problems related to drinking during the index pregnancy.
2. Unknown prenatal alcohol exposure indicates that there is neither a confirmed presence nor a confirmed absence of exposure. Examples include: the child is adopted and prenatal exposure(s) is unknown; the birth mother is an alcoholic, but confirmed evidence of exposure during pregnancy does not exist; and conflicting reports about exposure exist that cannot be reliably resolved.

Criteria for FAS Diagnosis

Requires all three of the following findings:

1. Documentation of all three facial abnormalities (smooth philtrum, thin vermillion, and small palpebral fissures)
2. Documentation of growth deficits
3. Documentation of CNS abnormality

Table 1: Differential diagnosis of individual features associated with FAS

Table 2: Differential diagnosis of syndromes similar to FAS

Considerations for a Referral for an FAS Diagnostic Evaluation

• For situations with known prenatal alcohol exposure: A child or individual should be referred for full FAS evaluation when there is confirmed significant prenatal alcohol use (i.e., 7 or more drinks per week or 3 or more drinks on multiple occasions, or both). If prenatal alcohol exposure in the high risk range is known in the absence of any other positive screening criteria, the primary health-care provider should document this exposure and closely monitor the child's ongoing growth and development.
• For situations with unknown prenatal alcohol exposure: A child or individual should be referred for full FAS evaluation when:
  • there is any report of concern by a parent or caregiver (foster or adoptive parent) that his or her child has or might possibly have FAS.
  • all three facial features are present (smooth philtrum, thin vermillion, and small palpebral fissures).
  • one or more facial features are present in addition to growth deficits in height or weight, or both.
  • one or more facial features are present, along with one or more CNS abnormalities.
  • one or more facial features are present, along with growth deficits and one or more CNS abnormalities.

Services Appropriate for Affected Individuals and Their Families

Refer to the original guideline document for information on the following topics:

• Risk and preventive factors
• General needs
• Age-specific services, including:
  • Prenatal services
  • Services for birth to 3 years of age
  • Services for children 3 to 6 years of ages and school age
  • Services for adolescents
  • Services for adults

Identifying and Intervening with Women at Risk for an Alcohol-Exposed Pregnancy

All women of childbearing age should be screened for alcohol use, including women who are pregnant or nursing, women who are planning a pregnancy, and women who are sexually active and not using contraception (such as teens and college-aged women). Refer to the original guideline document for discussion of the following topics:

• Methods and considerations for establishing reliable estimates of alcohol use
• Screening tools
• Computer-assisted interviews and laboratory screening measures
• Brief intervention
• Motivational interviewing
• Manualized brief intervention
• Computerized brief intervention
• Improving use of screening and brief intervention technology by clinicians

Note: Women who are pregnant, planning a pregnancy, or at risk of pregnancy should be advised not to drink, as no safe threshold of alcohol use during pregnancy has been established. Non-pregnant childbearing-aged women should be advised to drink no more than seven drinks per week and no more than three drinks on any one occasion.

• Bertrand J, Floyd LL, Weber MK. Guidelines for identifying and referring persons with fetal alcohol syndrome. MMWR Recomm Rep 2005 Oct 28;54(RR-11):1-14. PubMed



• National Task Force on FAS/FAE. Bertrand J, Floyd RL, Weber MK, O'Connor M, Riley EP, Johnson KA, Cohen DE. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta (GA): Centers for Disease Control and Prevention (CDC); 2004 Jul. 50 p. [217 references]

Electronic copies: Available in Portable Document Format (PDF) from the Centers for Disease Control and Prevention (CDC) Web site.

Print copies: Available from the Centers for Disease Control and Prevention (CDC), NCBDDD, Mail-Stop E-86, 1600 Clifton Road, Atlanta, GA 30333. Additional copies can be purchased from the Centers for Disease Control and Prevention (CDC), Fetal Alcohol Syndrome Web site.

A summary of the guideline recommendations are also available in the October 28, 2005 Morbidity and Mortality Weekly Report (MMWR) published by the CDC.

Various companion documents, including educational materials and publications, available from the Centers for Disease Control and Prevention (CDC), Fetal Alcohol Syndrome Web site.

Electronic copies: Available in Portable Document Format (PDF) from the Centers for Disease Control and Prevention (CDC), Fetal Alcohol Syndrome Fact Sheets Web site.

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