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What are congenital disorders?

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
• hip dysplasia
• hole in the heart
• spina bifida

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

• Down syndrome
• Fragile X syndrome

What can cause congenital disorders?

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 you could pass it on to your baby.

For this reason, you may choose to have 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

How are congenital disorders diagnosed?

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
• 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.

How are congenital disorders managed?

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.

What are the complications of congenital disorders?

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

Can congenital disorders be prevented?

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

Resources and support

Read more by visiting the webpage.

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

— supports families affected by rare genetic diseases.

— is the peak body for Australians living with a rare disease

— supports families caring for a child with an undiagnosed or rare genetic condition.

To find a genetic counsellor, visit the website.

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

supports people affected by pregnancy loss, stillbirth, baby or child death. You can call them on 1300 308 307.

The provides information and support for people who have experienced a miscarriage.

supports people grieving any type of loss.

If you feel depressed or anxious, call on 1300 22 4636 to talk to a counsellor.

If you feel overwhelmed, or strong emotions are making you feel unsafe, call on 13 11 14 — 24 hours a day, 7 days a week.