g logo sign red


Recommendations are marked up with an (R) and good-practice points are marked up with a (✓)  for further information about the ‘strength’ of recommendations, see the SIGN 156 full guideline.


The need for guidance

  • In 1973, a cluster of birth defects resulting from prenatal alcohol exposure was first described as a clinical entity called fetal alcohol syndrome (FAS). The syndrome has been characterised with specific diagnostic criteria which include evidence of prenatal alcohol exposure, evidence of structural or functional central nervous system (CNS) abnormalities, a specific pattern of three facial abnormalities and growth impairment (either prenatally, after birth or both)
  • As experience with children prenatally exposed to alcohol grew, other definitions were introduced in an attempt to provide better descriptions of a range of clinically diverse presentations. Such terms have included ‘fetal alcohol effects’ (FAE) which was used to describe children whose behaviour and cognitive function were assumed to have been affected by prenatal alcohol exposure (PAE) but whose growth and facial features, as well as global cognitive function, were normal or did not meet specific deficits. Further terms used in this situation include ‘alcohol-related birth defects (ARBD), alcohol-related neurodevelopment disorder (ARND), partial fetal alcohol syndrome (pFAS)’ and ‘neurodevelopmental disorder—prenatal alcohol exposure (ND-PAE)’. These wider patterns of effects, along with FAS, constitute the continuum of structural anomalies and neurocognitive and behavioural disabilities associated with prenatal exposure to alcohol which has been labelled fetal alcohol spectrum disorder (FASD)
  • The Canadian national guideline for diagnosis of FASD1 was the first system to recommend the use of the term FASD as a diagnostic classification rather than a collective category. It removed growth impairment as a diagnostic criterion and modified the domains of neurodevelopmental deficit required for diagnosis. The SIGN guideline has been adapted from this source. For further information about the adaptation, see the SIGN 156 full guideline.

Remit of the document

Overall objectives

  • This document provides recommendations based on best available evidence and consensus for the assessment and diagnosis of children and young people affected by PAE. It includes evidence-based recommendations on measurement of alcohol consumption in pregnancy and consensus-based recommendations on:
    • identification of children at risk of FASD
    • criteria for diagnosis and use of FASD as a descriptor
    • medical assessment
    • physical examination
    • sentinel features
    • neurodevelopmental assessment
    • the multidisciplinary assessment team
    • special considerations in the neurodevelopmental assessment
    • management and follow up of children and young people affected by PAE

Identification of children at risk of FASD

Maternal alcohol history

  • A reliable and accurate maternal alcohol history is the best screening tool for identifying risk of FASD
  • All pregnant and postpartum women should be screened for alcohol use with validated measurement tools by service providers who have received appropriate training in their use. All women should be advised not to consume alcohol in pregnancy; additionally those women drinking above the low-risk guideline for the general population should be offered early, brief interventions (i.e. counselling and/or other services) (R)
  • Women identified as having a pattern of risky or harmful alcohol use should be offered an intervention appropriate to their needs. This could range from a single structured conversation about alcohol risk (a brief intervention) to intensive treatment including detoxification and relapse prevention work (✓)

Assessing likely prenatal alcohol exposure

  • Confirmation of PAE requires documentation that the biological mother consumed alcohol during the index pregnancy based on (R)
    • reliable clinical observation
    • self report or reports by a reliable source
    • medical records documenting positive blood alcohol concentrations, or
    • alcohol treatment or other social, legal or medical problems related to drinking during the pregnancy

Recording the pattern of alcohol consumption

  • The number of type(s) of alcoholic beverages consumed (dose), the pattern of drinking and the frequency of drinking in pregnancy should all be documented (R)
  • This information should be routinely recorded by the midwife in antenatal notes and communicated to the GP and Health Visitor in Transfer of Care documentation. This will ensure that PAE information (confirmed/confirmed absent/unknown) will be more easily accessed and remain within the child’s health records (✓)
  • Sources for confirmed prenatal alcohol history must be reliable and devoid of any conflict of interest. Unsubstantiated information, lifestyle alone, other drug use or history of alcohol exposure in previous pregnancies cannot, in isolation, confirm alcohol consumption in the index pregnancy. However, co-occurring disorders, significant psychosocial stressors and prenatal exposure to other substances (e.g. smoking, licit or illicit drugs) in the index and previous pregnancies should still be recorded, based on the known interactions of these substances and their effects on pregnancy outcomes for both the mother and her offspring (R)

Screening for prenatal alcohol exposure

  • Use of the T-ACE, TWEAK or AUDIT-C tools in screening women in the antenatal period for alcohol consumption should be considered (R)
  • Associated use of particular biomarkers, such as CDT and PEth, alongside brief screening questionnaires, should be considered (R)

Download a sample FASD assessment form

Please note: The sample FASD assessment form reflects the complex and comprehensive set of multidisciplinary investigations which support a diagnosis of FASD. The outcome of such an assessment may be a diagnosis of FASD, or a different diagnosis or no diagnosis, however the detail of the range of investigations allows for better identification of the specific range of impairments demonstrated by the individual. While it is important to accurately record the history and details of the individual being assessed, the majority of investigations would not be completed in primary care.

There are a total of 14 supplementary materials available on the SIGN website which support this guideline. For example, these include “Information on FASD assessment for individuals and Caregivers” and “Information on Fetal Alcohol Spectrum Disorder and support for individuals and caregivers after diagnosis”. These are both printable information sheets which could be given by a GP, or secondary care clinician to an individual at different stages of the assessment pathway.


  • Referral of individuals for consideration of PAE as a cause of possible neurodevelopmental disorder should be made sensitively and only when there is evidence of significant physical, developmental or behavioural concerns and probable PAE (R)

Identification and assessment of children and young people affected by prenatal alcohol exposure

Diagnostic algorithm for FASD v2

Diagnostic algorithm for FASD. Download a PDF of this algorithm.

Diagnostic criteria


  • A diagnosis of FASD with sentinel facial features[A] may be made if an individual meets the following criteria (R):
    • simultaneous presentation of the three sentinel facial features (short palpebral fissures, smooth philtrum and thin upper lip); AND 
    • prenatal alcohol exposure confirmed or unknown; AND 
    • evidence of severe impairment in three or more of the identified neurodevelopmental areas of assessment or, in infants and young children, presence of microcephaly 
  • A descriptor of FASD without sentinel facial features[B] may be used if an individual meets the following criteria (R):  
    • confirmation of prenatal alcohol exposure; AND
    • evidence of severe impairment in three or more of the identified neurodevelopmental areas of assessment
  • For both diagnoses: 
    • contribution of genetic factors should be considered in all cases and referral may be indicated in atypical cases or where PAE is uncertain (R)
    • growth impairment and other birth defects and/or health issues should be documented if present (R)
    • hereditary, prenatal and postnatal factors that may influence developmental outcome should be recorded (R)
  • The diagnostic/descriptive criteria for FASD are the same for adults as for younger individuals (R)

[A] This has similarities to the diagnostic category FAS in ICD-10 and the diagnostic category ND-PAE in DSM-5
[B] There is no equivalent diagnostic category in ICD-10 or DSM-5

At risk for neurodevelopmental disorder and FASD

  • The designation ‘at risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure’ should be given to individuals when (R):
    • there is confirmation of prenatal alcohol exposure
    • the CNS diagnostic/descriptive criteria for FASD are not met (see above)
    • there is some indication of neurodevelopmental disorder in combination with a plausible explanation as to why the neurodevelopmental assessment results failed to meet the criteria for significant impairment (for example patient was too young; assessment was incomplete etc) 
  • In addition:
    • Growth impairment and other congenital anomalies should be documented if present
    • Hereditary, prenatal and postnatal factors that may influence developmental outcome should be recorded
  • The designation ‘at risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure’ may also be considered for individuals with all three sentinel facial features as described above who do not yet have documentation or evidence of abnormality in the requisite three or more neurodevelopmental area of assessment criteria or microcephaly. This designation should never be considered when prenatal alcohol exposure is confirmed absent (R)

The use of FASD as a diagnostic term

  • FASD should now be used as a diagnostic/descriptor term when prenatal alcohol exposure is considered to be a significant contributor to observed deficits that cannot be fully explained by other aetiologies. Because the observed deficits are recognised as being multifactorial in origin, all other known relevant contributors (for example trauma or known genetic anomalies) should be documented with the FASD diagnosis/descriptor as they have significant impact on the functional and neurological challenges of the affected individuals (R)

Medical assessment

  • The diagnostic process should include a family, social and medical history as well as complete physical examination (R)

Sentinel facial features

Assessing the face

  • The following three sentinel facial features should be assessed (R):
    • palpebral fissure length ≥2 standard deviations (SD) below the mean 
    • philtrum rated 4 or 5 on 5-point scale of the University of Washington Lip-Philtrum Guide 
    • upper lip rated 4 or 5 on 5-point scale of the University of Washington Lip-Philtrum Guide

Neurodevelopmental assessment

  • A diagnosis/descriptor of FASD is made only when there is evidence of pervasive and long-standing brain dysfunction, which is defined by severe impairment (a global score or a major subdomain score on a standardised neurodevelopmental measure that is ≥2 SDs below the mean, with appropriate allowance for test error) in three of more of the following neurodevelopmental areas of assessment: (R)
    • motor skills
    • neuroanatomy/neurophysiology
    • cognition
    • language
    • academic achievement
    • memory
    • attention
    • executive function, including impulse control and hyperactivity
    • affect regulation, and
    • adaptive behaviour, social skills or social communication

Direct and indirect assessment methods

  • Direct standardised measures should be used whenever possible. We recognise, however, that in some cases, indirect assessment methods such as informant ratings, clinical interview, or historical assessment through file review may be more appropriate (R)
  • If historical assessment, clinical interview, or file reviews are used for indirect assessment (for example assessing adaptive behaviour) deficits should be considered by the team to be at a severity level equal to or below the clinical cut-off, which is defined as ≥2 SD below the mean (R)
  • When using indirect methods of assessment, clinicians should ensure that information comes from multiple sources rather than a single informant (R)

Special considerations in the assessment of infants, children and young people

  • Infants and young children with confirmed prenatal alcohol exposure, but who do not meet the criteria for FASD should be designated as ‘at risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure’. Those with all three facial features, but no microcephaly, should be referred to a clinical geneticist (R)
  • The record of a designation of ‘at risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure’ should be available to professionals undertaking childhood developmental surveillance (✓)
  • A neurodevelopmental assessment is recommended for all children with confirmed prenatal alcohol exposure and/or all three facial features in whom there are clinical concerns (R)

Special considerations in the assessment of adolescents and adults

  • When it is not possible to obtain a formal adaptive behaviour measure or when there is no suitable informant, historical or current information, derived from a file review, may be used as a proxy (R)

Individualising the assessment

  • The length and structure of the assessment must accommodate the needs and capacity of the individual being assessed. It is important to recognise, for example, if the individual gets frustrated or tires easily; situational factors could invalidate the assessment (R)

Making the assessment meaningful

  • Recommendations following the assessment must address basic and immediate needs of the individual being assessed, and assist them in accessing required resources (R)
  • The core principles of bioethics, including autonomy and consent, confidentiality, beneficence, and non-maleficence must be carefully applied (R)

The assessment team

  • Team members across the lifespan are (R):
    • neonatologist/paediatrician/physician with competency in assessment of FASD 
    • child development specialists with the skillset to conduct physical and functional assessments (e.g. speech and language therapist, occupational therapist, clinical psychologist, educational psychologist)
  • Further individuals who can provide valuable input into the diagnostic process may include parents and carers, advocates, childcare workers, clinical geneticists, cultural interpreters, family therapists, general practitioners, learning support, mental health professionals, mentors, nurses (e.g. school, learning disability, etc), neuropsychologists, probation officers, psychiatrists, social workers, substance misuse service staff, teachers and vocational counsellors

Management and follow up

  • Education about the impact of FASD and appropriate support for the individual and those involved with their care is recommended. The range of potential issues that might be expected to arise as a result of receiving the FASD diagnosis/descriptor should also be discussed. It is important that this information is communicated in a culturally sensitive manner using appropriate language (R)

Follow up

  • A member of the team around the child should follow up within a specified length of time to ensure that the recommendations have been addressed and to provide further support as needed (R)
  • Individuals with FASD and their caregivers should be linked to resources that can improve outcomes. However, just because availability of services is limited, an individual should not be denied an assessment and management plan. Often the identification of need is the impetus that leads to the developmental of resources (R)
  • When young adults are transitioning to independent or interdependent living situations, they may need to undergo a reassessment to identify any changes in their adaptive function scores and to make any subsequent adjustments to their management plan (R)
  • It is particularly important given the changing and lifelong nature of FASD that reassessment and revision of care plans are considered at all transition stages in the child and young person’s life. This should be linked to the GIRFEC process in Scotland and to the review of Individual Education Plans and transition to adulthood planning (✓)


  1. Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, et al. Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan. CMAJ. 2016 Feb 16;188(3):191-197. doi: 10.1503/cmaj.141593


Full guideline available from…

Scottish Intercollegiate Guidelines Network, Gyle Square, 1 South Gyle Crescent, Edinburgh EH12 9EB (Tel—0131 623 4720) www.sign.ac.uk/our-guidelines/children-and-young-people-exposed-prenatally-to-alcohol/

Scottish Intercollegiate Guidelines Network. Children and young people exposed prenatally to alcohol. Edinburgh: SIGN; 2019. (SIGN Guideline No.156).

Published date: January 2019.