6 August 2001
The Minister of Health, Dr Manto Tshabalala-Msimang, will open the first international conference on Birth Defects and Disabilities in the Developing World in Sandton tomorrow. At the conference, the Minister will also launch South Africa's first policy guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities.
It is estimated that in South Africa, 1 in every 40 babies has one or another birth defect, and over 150 000 children born annually are affected by a significant genetic defect by the age of five, requiring medical and supporting interventions.
The health burden of congenital disorders can be greatly reduced by using approaches for primary prevention, cure when possible, and supportive management when not possible.
"The aim of the guidelines is to reduce the burden of genetic disorders and birth defects on individuals, families and society in general. They will also help to empower individuals with genetic disorders and their families to live and reproduce as normally and responsibly as possible. Having this policy will also help stimulate awareness of the psycho-social and fiscal impact of genetic disorders and defects," said Dr Eddie Mhlanga, head of maternal, child and women's health at the Department of Health.
Managing such conditions includes diagnosis and providing the individual or family with genetic counselling, psychosocial support, and the best possible medical treatment. Primary health care management includes prevention of disease complications such as eye and skin care for people with albinism, mental stimulation for children with Down syndrome, and providing psychosocial support to affected individuals and their families.
The guidelines emphasise prevention of common conditions such as Down syndrome (particularly in women over 35), neural tube defects (by means of folic acid supplementation), and FAS (by discouraging consumption of alcohol in pregnancy).
Secondary prevention includes voluntary pre-natal diagnosis and selective termination of pregnancy for genetic disorders such as anencephaly, Trisomy 13 and 18, and inoperable foetal cardiac defects. Tertiary prevention involves correction of genetic disorders in order to restore normal function, such as repairing a cleft-lip or palate, orthopaedic management of clubfeet, and cardiac surgery for children with Down syndrome.
Priority conditions are listed, and include Down syndrome, neural tube defects, foetal alcohol syndrome, albinism, cleft-lip/palate, club feet (talipes equinovarus), congenital infections such as rubella (German measles), and genetic deafness, blindness, physical handicap and mental retardation.
People who would benefit from a comprehensive genetic service would include individuals who are affected or have a family history of a genetic disorder or birth defect; couples with recurrent miscarriages or stillbirths; pregnant women exposed to alcohol, certain medications and recreational drugs; women over 35 planning a pregnancy, couples in a consanguineous marriage, and ethnic groups with a high risk for certain disorders, such as albinism among certain Black South African populations, and Tay-Sachs disease in Ashkenazi Jews.
Further information on the guidelines is available from the Sub-directorate: Human Genetics, Department of Health, Private Bag X828, Pretoria 0001 or telephone (012) 312-0000, fax (012) 326-2740.
Issued by Department of Health
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