Birth Defects Explained

A birth defect is a problem that develops while a fetus (baby) is in utero (the womb) during pregnancy. Birth defects can also be referred to as congenital anomalies, congenital malformations, congenital abnormalities or congenital disorders. They can be minor (some even go undiagnosed) or significant (some can lead to death or major health complications). Birth defects remain the major cause of death and disability in infants.

According to the Australian Institute of Health and Welfare (AIHW) 4,500 (or 1.7%) of Australian babies are born with birth defects each year.

Most birth defects are detected during pregnancy or at birth, while some are not diagnosed until infancy and childhood.

 
 
 

What are the main types of birth defects?

Structural (how the body is built)

  • These include things like heart defects, spina bifida, cleft palette.

Functional (how the body operates)

  • These include things like down syndrome, haemophilia and Tay-Sachs disease.

Metabolic Birth Defect (within the body’s chemistry)

  • These include things like congenital hypothyroidism.

What are the main causes of birth defects?

This is still an area being researched and due to the many possible causes, it is a vast research area to cover. Some factors that scientists and medical professionals believe contribute to chance of birth defects developing are":

Environmental - including but not limited to, the exposure to chemicals, radiation and more.

Genetics

Drugs - both illegal and pharmaceutical drugs can cause risk during pregnancy

Drinking alcohol while during pregnancy

Age of mother during pregnancy

Health of mother during pregnancy - in particular contracting serious but vaccine preventable illnesses like rubella or chicken pox. Also the diet and lack of nutrition for the mother during pregnancy. Obesity can also create a risk.

Toxoplasmosis - a parasite transferred through contaminated animal faeces, unpasteurised milk products, raw meat and more.

What are the chances of having a birth defect?

1.7% of births in Australia will develop birth defects. Chances are increased if you fall into any of the categories above.

Can I limit the chances of having a baby with a birth defect?

This is a conversation you need to have with your GP, obstetrician or health care provider. There is also information available at these resources, with MotherSafe and in our Advice for Pregnancy section.

 
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Summary of birth defects facts

  • There are three types of birth defects: Structural, Functional and Metabolic.

  • They are the major cause of death and disability in children in Australia.

  • There are many factors that may contribute to a bay developing a birth defect.

  • Ask the advice of your GP, obstetrician or health care provider on the ways to decrease your chances.

You can get help

See your GP, maternity clinic, obstetrician or pre-natal health professional.

There is also a list of resources for individuals on our site here.