What is a congenital disorder?

Congenital disorders include any health condition that is present before or at birth. They are sometimes called congenital anomalies or birth differences.

In Australia, about 3 in 100 babies are born with a congenital disorder. This is about 23 babies each day.

About 1 in 3 of these babies has more than one health condition at birth.

Some babies have health conditions that aren't found until they get older.

Some conditions are mild, while others can be very serious.

Some examples of congenital disorders

There are many different types of congenital disorders. Some examples are:

• cerebral palsy
• cleft lip or palate
• cystic fibrosis
• haemophilia
• hip dysplasia
• hole in the heart
• spina bifida

Some congenital disorders involve your baby's chromosomes. Your baby might have too many chromosomes or not enough:

• Down syndrome
• Fragile X syndrome
• Turner syndrome

Often, it's not clear why a baby has a congenital disorder. However, there are some things that can increase your baby's chance of having a congenital disorder:

• maternal (the mother) infections — such as rubella or fifth disease (also known as 'slapped cheek disease')
• some medicines taken by a parent
• environmental exposure — to radiation or pollutants
• nutritional deficiencies — such as folate deficiency or iodine deficiency
• drug or alcohol use

The risk of harm to your baby depends on many factors.

Genetics

If you or your partner have a genetic disorder, you could pass it on to your baby.

For this reason, you may choose to have genetic testing before trying to fall pregnant. Your doctor or genetic counsellor can request genetic screening for you.

The chance of your baby having a congenital disorder increases if the baby's parents are related by blood (consanguinity).

Your age

Your baby has a greater chance of having a chromosomal abnormality, if you're aged:

• 40 years and over
• under 20 years

Congenital disorders may be diagnosed:

• during pregnancy
• at birth
• during the first week of life
• later in life

How are congenital disorders diagnosed during pregnancy?

There are several tests available during pregnancy that can pick up congenital disorders. They may involve:

• blood tests
• urine (wee) tests
• ultrasound scans

Many structural conditions can be picked up on an ultrasound at 18 to 22 weeks.

If a screening test shows that your baby is at higher risk, you might choose to do a diagnostic test. Diagnostic tests include amniocentesis and chorionic villus sampling (CVS). The results of a diagnostic test will tell you if your baby has a congenital disorder.

How are congenital disorders diagnosed after my baby is born?

At birth, a doctor will examine your baby from head to toe. They will arrange tests if they suspect your baby has a health condition or birth difference.

All babies are offered a newborn screening test, known as the 'heel prick test'. These tests check for a number of health conditions that wouldn't otherwise be found.

If any conditions are found, your baby's doctor will tell you what happens next.

Read more about having a baby with health problems at birth.

If tests show that your baby has a congenital disorder, talk with your doctor or midwife. They might refer you to a genetic counsellor for information and support.

You may need to see a specialist to monitor your baby and discuss treatment options.

Depending on the condition, there might be treatments you or your baby can have, such as surgery or a medicine.

Some disorders are life-threatening and cannot be treated. Others may have lifelong impacts.

Not all congenital disorders can be prevented. However, there are things you can do to lower your baby's chance of having a congenital disorder.

Before you become pregnant

Ensure that you:

• have a healthy diet
• take folic acid to help prevent neural tube defects
• maintain a healthy weight
• avoid alcohol and smoking or vaping
• manage diabetes if you have it
• get vaccinated against rubella and chickenpox if you're not immune

You may want to organise genetic testing before trying to become pregnant. Especially if there's a history of genetic disorders in your family.

Find out more about planning for your pregnancy.

During pregnancy

Continue to:

• have a healthy diet
• take folic acid to help prevent neural tube defects
• maintain a healthy weight
• avoid alcohol and smoking or vaping
• if you have diabetes, make sure that it's well managed

You can also:

• limit your exposure to environmental hazards
• check that any medicines you take are safe in pregnancy
• don't travel to areas with outbreaks of infections that can cause congenital disorders

Read more by visiting the Australian Birth Defects Society (Opens in new tab) webpage.

There are many support groups available affected by rare genetic diseases.

Genetic Alliance Australia (Opens in new tab) — supports families affected by rare genetic diseases.

Rare Voices Australia (Opens in new tab) — is the peak body for Australians living with a rare disease

Syndromes Without a Name (SWAN) (Opens in new tab) — supports families caring for a child with an undiagnosed or rare genetic condition.

To find a genetic counsellor, visit the Human Genetics Society of Australasia (Opens in new tab) website.

If you go through pregnancy loss, you can talk with your doctor or midwife about where to get support.

Red Nose Grief and Loss (Opens in new tab) supports people affected by pregnancy loss, stillbirth, baby or child death. You can call them on 1300 308 307.

The Pink Elephants Support Network (Opens in new tab) provides information and support for people who have experienced a miscarriage.

Grief Australia (Opens in new tab) supports people grieving any type of loss.

If you feel depressed or anxious, call Beyond Blue (Opens in new tab) on 1300 22 4636 to talk to a counsellor.

If you feel overwhelmed, or strong emotions are making you feel unsafe, call Lifeline (Opens in new tab) on 13 11 14 — 24 hours a day, 7 days a week.