The development of a baby, from the time of fertilisation through to the moment of birth, is an incredibly complex journey. Most of the time the result is a perfect new baby. However, in about 3% of babies mistakes happen and a birth defect occurs. This is when an anatomical difference has come about as the baby develops in the womb.
Birth defects (also known as congenital anomalies) are a major cause of infant hospitalisation and deaths in the first year of life. These are not only costly to manage in the health-care system, but can also have an enormous impact on the lives of the child and their family.
Some birth defects are relatively mild, can be repaired with simple surgery and the child will go on to lead a perfectly normal life. These include an additional little finger or webbing between two toes.
Some birth defects are so severe the baby cannot live outside the womb. These kinds usually involve major malformation of essential structures, such as anencephaly where the brain fails to form.
When a single cause affects multiple systems in the body the birth defect is described as a syndrome. An example is Down syndrome. This is one of the most common birth defects in Australia and causes intellectual disability and other physical and learning challenges.
The outlook for children with syndromes, like the syndromes themselves, is highly variable. A syndromic birth defect is not necessarily more severe than an isolated birth defect. However, the involvement of multiple systems or structures may require ongoing management to ensure the best outcomes for the child and their family.