Alcohol is widely used in society despite concerns that it can cause physical, social, mental and economic harms (NHS Digital, 2019; NHS website, 2021). Alcoholic beverages contain different percentages of ethanol, all of which are teratogenic. One form of long-lasting damage that can be caused by alcohol is fetal alcohol syndrome (FAS), part of the umbrella term fetal alcohol spectrum disorders (FASDs) (British Medical Association (BMA), 2007a; National Institute or Health and Care Excellence (NICE), 2019). FAS affects individuals and families in a variety of ways, causing neurological (Lamb et al, 2019), social (Lees at al, 2021) and physical complications (May et al, 2015), and it is important to raise awareness, consider preventive strategies and the possibility of mitigating further damage (Stade et al, 2009). However, the prevalence of FASDs is difficult to determine (Schölin et al, 2021a).
What are fetal alcohol spectrum disorder and fetal alcohol syndrome?
Alcohol is a teratogen that has a toxic effect on the developing fetus (BMA, 2007a). FASD is seen as a non-diagnostic umbrella term (Riley et al, 2011; Nash and Davies, 2017; Blagg and Tulich, 2018) that encompasses a wide range of disabilities that are the result of prenatal alcohol exposure (PAE) (Guerri et al, 2009). These include partial fetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND), neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE), alcohol-related birth defects (ARBD) and FAS. FAS is the only diagnosis officially recognised and standardised within the International Classification of Diseases (ICD-11) (World Health Organization (WHO), 2021). The other terms are often used to describe a subset of FAS criteria (BMA, 2007b).
FASD can be diagnosed at different stages in a person's life, because PAE causes lifelong irreversible developmental changes. As a fetus, the teratogenic effects of alcohol may be observed antenatally, but this is rare (Welch-Carre, 2005). More often, FASD is diagnosed in early childhood or later in life. There is also evidence that PAE has an epigenetic effect, meaning that it alters the DNA of a child and continues to do so throughout the lifespan. Furthermore, data have shown that alcohol can impact the epigenome (the part of the genes that an individual passes on), meaning that it can affect future generations (Lussier et al, 2017).
Prevalence
FASDs remain underdiagnosed, with many children either misdiagnosed or undiagnosed (Chasnoff et al, 2015). The BMA (2007a) has suggested that the reasons for this are complex (Box 1), with estimates of FASD prevalence ranging from 3.2% (Wise, 2019) to 6.0%-17% (May et al, 2015; McQuire et al, 2019). It has also been stated that there are no reliable estimates of the prevalence of FASD in the UK (Schölin et al, 2021a). Alcohol use in women during pregnancy within the UK may provide some indication of the incidence of FASD; however, these figures are also not seen as fully representative, as they are commonly reliant on self-reporting (Mukherjee et al, 2013). Studies in the past 20 years show antenatal alcohol use differs widely; the latest data provided by the Office for National Statistics (2018) identified that, in 2017, 11.3% of interviewed pregnant women admitted to having drunk alcohol in the previous week. Nykjaer et al (2014) conducted research that displayed a far larger percentage of alcohol use during pregnancy in the UK, with 79% of the pregnant women in the study drinking during the first trimester, 63% in the second and 49% in the third. Based on these figures the amount of FASD may be far higher than previously stated.
Box 1.Reasons for undiagnosed fetal alcohol spectrum disorders (FASDs)
- Lack of a specific diagnostic test
- Under-reporting of maternal alcohol consumption, or lack of maternal alcohol history
- Difficulty in detecting the defining features associated with FASDs in neonates
- Confounding factors (eg poor nutritional maternal status, polydrug use)
- Differing and poorly defined diagnostic criteria for FASDs
- The lack of multidisciplinary neurodevelopmental teams to complete comprehensive assessments needed to evaluate the full range of FASDs
- A lack of knowledge and understanding of FASDs among health professionals, making them feel not competent to make a diagnosis
- Several genetic and malformation syndromes that display similar clinical features as FASDs (eg Williams syndrome and DiGeorge syndrome)
Source: British Medical Association, 2007a
Aetiology
Maternal alcohol consumption is the cause of FASD and FAS. However, the evidence is inconclusive as to why some children are impacted more than others. Genetics, the nutritional status of the mother and polydrug use have been offered as variables (BMA, 2007b). Gestation is divided into three trimesters, each trimester has different purposes for fetal development and growth (Hendry et al, 2012) (Figure 1). The first and second trimesters are periods during which facial development takes place and alcohol consumption during this time can result in irreversible cranio-facial alterations (Popova et al, 2017). Alcohol exposure in the second and third trimesters can result in ongoing damage to the brain (Popova et al, 2017). Recent government advice reflects the evidence base (Schölin, 2021a). The current advice from the Chief Medical Officer is that no alcohol should be consumed during pregnancy (Department of Health, 2016). However, an unplanned or undetected pregnancy could result in the woman not being aware that she is pregnant and therefore may unknowingly expose the fetus to alcohol (Schölin et al, 2021a).
Figure 1. Embryo and fetal development stages
Clinical features
Several clinical features can develop because of prenatal alcohol exposure. These can be physical (Table 1) as well as cognitive and social. Not all these features may present themselves in all instances of FASD or FAS and they can differ based on the extent of the exposure. Practitioners should be aware that there are different physical presentations within ethnic groups (Del Campo and Jones, 2017).
Table 1. Physical features of fetal alcohol spectrum disorders (FASDs)
| Growth | Growth faltering: both height and weight when compared to those from the same ethnic origin. Can be observed pre- and postnatal |
| Structural defects central nervous system (CNS)/brain | Microcephaly: small head circumference of 10% smaller than averageCentral nervous system (CNS) damage or defects that include agenesis (absence), partial agenesis (partial absence) or dysgenesis (defective development) of the corpus callosum (the connective white matter between the brain halves) and the cerebellum (part of the brain that deals with motor skills). Furthermore, an overall reduction of brain volume in all areas has been reported (Little and Beaulieu, 2020) |
| Eyes | Ptosis: hanging or ‘drooping’ eyelidsShort palpebral fissures: the opening of the eyelids is not as wide as in people born without FASDs. This is also a marking of the severity of FASDs, as it is associated with a lower IQStrabismus: eyes are not properly aligned. This is not specific to FASDs, because it can be a feature in many other conditions |
| Epicanthal fold | Extra skin that may cover the inner canthi of the eyes. These folds can be considered natural in certain ethnic groups, because it is a common feature in Asian and Finnish people |
| Mouth | Philtrum: smooth and longUpper lip: thinner than ‘normal’ (see Figure 2) (Hoyme et al, 2016) |
| Nose | Short, anteverted (upturned nose). Low/flat nasal bridge |
| Midface | Hypoplasia: the upper jaw, cheekbones and eye sockets have not fully developed |
| Ears | ‘Railroad ears’: the top curve of the outer ear is underdeveloped and folded over, parallel to the curve beneath it, giving the appearance of a railroad track (Wattendorf and Muenke, 2005) |
| Joints | Contractures of one or more joints |
| Hands | Hands can display abnormal palmar creases, shaped like hockey sticks with a sharp curve towards the second and third fingersCamptodactyly: the permanent bending of one or more fingers (Figure 3) |
Source: adapted from Del Campo and Jones, 2017
Figure 2. Facial characteristics that may be seen in FASD 
Figure 3. Hand with camptodactyly
There are more than 400 co-occuring conditions related to FASD, so the condition is not solely about ‘the face’ (National Organisation for Fetal Alcohol Syndrome (NOFAS-UK), 2021). Only 10% of children with FASD have physical features (NOFAS-UK, 2021), many more have conditions related to their executive functioning, which impact on the affected person in multiple ways, including (Fast and Corry, 2009):
- Learning and remembering
- Understanding and following directions
- Controlling emotions
- Communicating and socialising
- Daily life skills, such as feeding and bathing
- Impulsivity, hyperactivity
- Increase susceptibility to victimisation and involvement in the criminal justice system (Fast and Conry, 2009).
Impact on individuals
Diagnosis can impact on an individual considerably, and their reactions may vary. Families experience a sense of grief, loss and guilt following diagnosis (Leenars et al, 2012). The health and social care professional's role is to support the whole family through any adjustment and ensure their needs are met. An early diagnosis, and adequate information and support for the family, can reduce the risk of subsequent children being born with FASD/FAS (Murkerjee, 2007). Many children with FASD may become looked after children as a result of safeguarding concerns, including PAE. Often FASD will be diagnosed at a later date when behavioural or learning needs become pronounced (BMA, 2007a; Carrellas, 2021). It is important to note that excessive alcohol consumption can be an indicator of an inability to provide a protective environment for a child. US data suggest that rates of FASDs are higher than those of autistic spectrum disorder (ASD), and yet there is more support available for children with ASD (Carrellas, 2021).
Practitioner/professional role
Sexual health practitioners, GPs and practice nurses should consider providing contraceptive and family planning advice to reduce the risk of an alcohol-exposed pregnancy. Access to training on how to provide preventive interventions through motivational interviewing has been proven to reduce this risk (Schölin et al, 2021b). All nurses can provide women with advice on alcohol consumption in general and in pregnancy as part of Making Every Contact Count (Health Education England, 2015). Schools and early years professionals also need to be aware of the condition to ensure that children are assessed and receive the appropriate support (Lees et al, 2021). When asked about alcohol consumption, people are not always able to provide an accurate answer—they may not recall accurately or underestimate. Building a trusting relationship with families, and particularly women, can increase the potential for authentic self-reporting (Schölin et al, 2021b).
LEARNING POINTS
- This article reiterates the importance of Making Every Contact Count for health professionals because alcohol consumption is a public health concern
- Alcohol consumption can lead to ill health in women, increasing morbidity and mortality and can affect the fetus in pregnancy
- Very few parents intentionally want to harm their child, therefore when FASD is diagnosed, sensitivity is needed in discussing this with the family
- Safeguarding concerns surrounding alcohol consumption must be escalated to a designated safeguarding officer
CPD reflective questions
- Reflect on the negative impacts of alcohol consumption
- Consider what advice on alcohol consumption you would give to a woman who is, or is intending to be, pregnant
- Think about how best to share information on fetal alcohol syndrome with individual women and the wider public
- Consider how you would help a family with a child diagnosed with or suspected of having fetal alcohol syndrome