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Birth defects

Birth defects are quite common. Some are minor and cause little, if any, long term problems. Other birth defects are life threatening or cause significant disability. 

Birth defects may affect how the body looks and functions, such as structural problems with bones, skin, nerves or tissues. Examples include cleft lip, spina bifida and neural tube defects. Birth defects can also cause mental disabilities. 

Some of the causes of birth defects include:

Follow the links below to find trusted information about birth defects.

Last reviewed: July 2016

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Chromosome Analysis (Karyotyping) - Lab Tests Online AU

To detect chromosome abnormalities, in order to help diagnose genetic diseases, some birth defects and certain haematologic and lymphoid disorders

Read more on Lab Tests Online website

What is a congenital disorder?

Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.

Read more on Pregnancy, Birth & Baby website

Alpha-fetoprotein (AFP) tests in pregnancy - myDr.com.au

An alpha-fetoprotein (AFP) test is a blood test that can show whether your fetus has signs of some birth defects, in particular, spina bifida (a type of neural tube defect).

Read more on myDr website

Pregnancy - Pregnancy Topics - Having a baby with special needs

Sometimes babies are not born healthy or normal. Some parents will have a baby who has a birth defect, who is developmentally delayed or a baby who is born with special needs.

Read more on Women's and Children's Health Network website

Jeans for Genes Day

Jeans for Genes Day is a national day when people wear their jeans to raise much-needed funds for research into birth defects and diseases such as cancer, epilepsy, and a range of genetic disorders.

Read more on Pregnancy, Birth & Baby website

Congenital heart defects

Congenital heart defect (CHD) or congenital heart anomaly is a defect in the structure of the heart and great vessels that is present at birth

Read more on WA Health website

Down syndrome - Lab Tests Online AU

Down syndrome (DS) is a congenital condition caused by an extra copy or piece of chromosome 21 in all or most of the affected persons cells. It is a group of signs, symptoms, birth defects, and complications that arise from an error in cell division that occurs before, or shortly after, conception. This error has a widespread effect on the physical and mental development of the affected person.

Read more on Lab Tests Online website

Spina Bifida | The Sydney Children's Hospitals Network

Spina Bifida describes a group of spinal abnormalities that occurs within the first four weeks of a pregnancy when the baby’s developing spine (neural tube) fails to close properly.

Read more on Sydney Children's Hospitals Network website

How did this happen? | Heart Centre for Children

When parents first discover that their baby or child has a heart abnormality, it is common to ask, Why has this happened? and How can I stop this from happening again?

Read more on Sydney Children's Hospitals Network website

Pregnancy - Pregnancy Topics - Folic acid (Folate)

Folate is a B group vitamin that helps prevent birth defects known as neural tube defects, such as spina bifida. Folic acid is changed into folate in the body.

Read more on Women's and Children's Health Network website

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