Foetal alcohol syndrome

Summary

• Foetal alcohol syndrome (FAS) describes a characteristic pattern of abnormalities associated with alcohol intake during pregnancy.
• The higher the alcohol intake, the more severe the abnormalities.
• There are characteristic facial, limb and heart abnormalities.
• Foetal development is delayed and mental retardation is common.
• There is no known safe limit to alcohol in pregnancy, and pregnant  women are advised not to drink at all.

Definition

Drinking alcohol during pregnancy can damage the foetus as it develops, leading to a characteristic pattern of malformations which is identified as the FAS.

The FAS is not an “all-or-none phenomenon”. There is a spectrum of severity from the full blown syndrome to no defects at all. The higher the amount of alcohol consumed, the greater the degree of malformation. The safe limit for alcohol intake during pregnancy is not known.

Poor nutritional intake and smoking during pregnancy are additional adverse factors which probably aggravate the ill-effects of alcohol on the infant.

Who gets FAS and who is at risk?

South Africa has one of the highest rates of FAS in the world, with the greatest prevalence reported in the wine growing areas of the Western Cape. A recent study in the Boland around the town of Wellington showed that 48 out of 1000 children in their first year at school had FAS. This is 36 times higher than the figure for Western nations, which is 1.33 children per 1 000.

Infants born to mothers who drink heavily during pregnancy have twice the risk of abnormality compared to those born to moderate drinkers. Among heavy drinkers, 32% of infants will develop congenital abnormalities compared with 14% in those who drink moderately.

Rates are highest in poor rural communities with a culture of heavy drinking of alcohol, wine in particular. This may have had its historical origin in the “dop system” (giving farm workers alcohol on a daily basis) and in the ready supply of cheap alcohol in both legal outlets and in “shebeens”.

Features of FAS

The principal clinical features of FAS comprise three main groups of signs:

Growth deficiency

Poor growth in length, head circumference and weight, which starts in the womb and continues after birth.

Central nervous system involvement

• Delayed development or mental handicap which ranges from borderline to severe.
• Learning difficulties (with specific deficits in mathematics), poor school performance, deficits in receptive and expressive language, short concentration span, poor memory, hyperactive behaviour and poor judgment are some of the characteristic findings in children with FAS.

Facial features

In the fully developed syndrome the facial appearances are characteristic:

• Small eyes with epicanthic folds (folds at the inner aspects of the eyes)
• A flattened nasal bridge with upturned nostrils. This is known as a ‘saddle’ nose.
• A smooth thin upper lip with absence of the normal groove under the nose known as the ‘philtrum’
• A small lower jaw

Other birth defects may be present, such as:

• Heart defects are particularly common and may occur in up to 70% of children with FAS.
• Minor joint and limb abnormalities, including some restriction in movement and altered creases in the palms of the hands
• Kidney anomalies
• Many others

The Western Cape study showed that affected school-entrants had poor language ability, problems with fine motor activities, poor eye-hand coordination and difficulties with practical reasoning.

Diagnosis

The diagnosis is based on a combination of a history of drinking during pregnancy and the characteristic pattern of abnormalities. There are no special investigations, tests or laboratory methods for diagnosing FAS.

Treatment

There is no specific treatment for FAS.

These children require special schooling and intervention to help them with coordination and problems with motor activities.

Outcome

In severe cases the outlook is poor, with severe developmental delay and mental retardation. In mild cases, children can lead relatively normal lives, provided the correct schooling and therapy are available. Unfortunately in almost all of these cases the children are born into very poor social circumstances and may not receive appropriate schooling and therapy.

Prevention

Yes, by not drinking during pregnancy. Since a safe lower limit of alcohol during pregnancy is not known, it is best not to drink at all.

• Community education on the dangers of alcohol abuse is an urgent requirement.
• Another is to improve maternal nutrition prior to and during pregnancy.
• Most important is the alleviation of poverty in rural areas.

In the Western Cape prevention workshops, community upliftment programmes, campaigns against the “dop system”, life skills and educational programmes and new labour laws are being introduced.

Previously reviewed by Prof M. Kibel, Emeritus Professor of Child Health

Reviewed by Prof Eugene Weinberg, Emeritus Professor of Paediatrics, Consultant Paediatrician, UCT Lung Institute, September 2011

Further reading:
For a full description see D Viljoen; Fetal Alcohol Syndrome. In: Child Health for All – A manual for Southern Africa (eds. Kibel MA & Wagstaff LA) OUP (Cape Town) 2001