Fetal Alcohol Syndrome

Fetal alcohol syndrome (FAS) is not a uniform clinical picture, but a spectrum of disorders, varying in severity. Fetal alcohol effects (FAE) represents the milder end of the spectrum.
There are 3 main components of FAS:

Alcohol has been used and abused since antiquity, but fetal alcohol syndrome was unrecognised until it was first described in France in 1968¹ and again in the USA in 1973.²That is not to suggest that problems were previously unnoticed. During the "gin epidemic" a report from the Royal College of Physicians in 1725 noted that "weak, feeble and distempered children" were the result.³ In 1834 a parliamentary report on Effects of Drunkenness on the Nation remarked that children tend to be "born starved, shriveled and imperfect in form".⁴

Alcohol is the commonest teratogen affecting humans, causing perhaps 10% of physical malformations. It is rated as the commonest cause of mental and behavioural problems in children,⁵ surpassing Down's syndrome and neural tube defects. Exact numbers are difficult to define in this spectrum of disorder but it is estimated that fetal alcohol effects occur in 3 to 5 live births per 1,000 and fetal alcohol syndrome occurs in 1 to 2 per 1,000. There is obviously much difference between communities depending upon habits and tradition.

Risk factors

• The risk factor is maternal consumption of alcohol during pregnancy. The more alcohol that is consumed the greater the risk.
• Genetic factors (gene polymorphisms) also affect fetal vulnerability for FAS.⁶

The fact of alcohol abuse may not be known to others. Alcoholism, diagnosis and treatment in primary care can be very difficult and self-reported levels of consumption must be treated with circumspection. It is difficult to assure pregnant women about a safe level of drinking and as the disease is a continuum some advocate that there is no safe level.⁷ This is the position adopted increasingly in other countries.

Heavy drinking and binge drinking are special risks. Alcohol seems to travel freely between mother and fetus but the fetal liver has only about 10% of the ability to detoxify alcohol and the amniotic fluid acts as a reservoir.

Criteria have been established to make the diagnosis.^8,9

Failure of growth

Weight, length and head circumference are all reduced and whilst the infant who has suffered from placental insufficiency tends to emerge ravenous and eagerly feeds to restore weight, the child with FES remains stunted for life. Adequate nutrition and a caring environment are not enough to reverse the damage.

Craniofacial abnormalities

These may include any permutation of the following:

• Hypoplasia of the mid-face
• Flat philtrum. Retrognathia in infancy, micrognathia or relative prognathism in adolescence and a low nasal bridge.
• Thin upper lip
• Microphthalmia, strabismus, ptosis and short palpebral fissures
• Cleft palate may occur
• Posterior rotation of the ears
• Microcephaly

Musculo-skeletal and uro-genital deformities

These may occur in up to 40% of cases, ranging from contractures of the finger joints to more severe lesions, such as congenital dislocation of the hip and abnormalities of the thoracic cage.
Other deformities include cryptorchidism and hypoplastic labia as well as some other abnormalities of the urinary tract.

Cardiac abnormalities

The incidence of congenital heart disease is estimated as between 29 and 50%. The commonest problems are atrial septal defects and ventricular septal defects but more complex and even lethal lesions may arise.

Neurological problems

In severe cases the neonate has exhibited the features of delirium tremens due to alcohol withdrawal. They are often fretful, tremulous, have a weak grasp and frequently marked difficulty with sucking and feeding. Cerebellar damage is common and may led to features of cerebellar ataxia and epilepsy.

Developmental delay and learning difficulties

The average IQ of a child with FAS is 65; population average is 100.
Around 70% of children with FAS have severe hyperactivity, frequently engaging in disturbing self-stimulating behaviours such as body rocking, head banging or head rolling. All children with FAS suffer from severe developmental disabilities that cause substantial problems when they start school. Intellectual and behavioural disorders cause considerable impediment to education.

As they mature into adolescence and adulthood the craniofacial deformities become less noticeable but the short stature and microcephaly remain. Educational achievement is extremely limited. There are problems with numeracy and extreme difficulties with abstract concepts like time and space, cause and effect, as well generalising from one situation to another. Lack of comprehension, judgement and attention skills cause adults born with FAS to experience major psychosocial and adjustment problems for the rest of their lives.¹⁰ Antisocial behaviour and inability to live independently are common.¹¹ Adults with FAS are more likely to have problems of alcoholism or drug abuse or to have problems with the criminal justice system.

The scale of the problem of FAE is more difficult to determine as it represents a milder spectrum. In one well known, extensive study the subject mothers were not of high risk and only 6 mothers thought that their use of alcohol during pregnancy may have been injudicious.¹² There is evidence that the children of mothers who drink more, but not excessively, have more problems from the outset. They tend to be born lighter and are more jittery and tremulous. They have more feeding difficulties. Even by 8 months old they have more sleep disturbance and poor balance, motor control and development. By school age there are more problems with learning and behaviour. It has been estimated that by 7 years old even 2 or more drinks a day in pregnancy represents a 7 point decline in IQ.¹³ Binge drinking, defined as 5 or more drinks on any occasion, is also detrimental. FAE seems to be quite similar to FAS but rather milder.

Both fetal alcohol syndrome and fetal alcohol effects are entirely preventable. The pattern of alcohol consumption in this country has shown a marked rise in total intake and in binge drinking, especially amongst young women. Health promotion must emphasise the need for moderation, if not complete abstinence, perhaps from before conception. Doctors, midwives and even nurses giving advice about family planning must emphasise the dangers of alcohol in pregnancy.¹⁴ The social and economic costs are enormous. The dangers of alcohol in pregnancy must be as well known as the dangers of smoking.