Congenital anomalies (birth defects)

What are congenital anomalies?

Congenital anomalies are structural or functional differences in a baby’s body or genetics that are there before birth. About 3 per cent, or one in every 30 children, are born with a congenital anomaly. Anomalies can affect various body parts, including the heart, brain, limbs, and internal organs.

Anomalies may result from genetic factors, exposure to certain substances during pregnancy, infections, or a combination of factors. However, most of the time, congenital anomalies are due to chance, and we do not have a clear explanation for why a baby was born with a congenital anomaly.

Examples of congenital anomalies include:

• hypospadias
• heart defects
• cleft lip and palate
• spina bifida
• Down syndrome.

Detection of congenital anomalies

Different types of screening tests can find different types of anomalies. The decision to have screening or diagnostic testing is a personal decision. You may wish to discuss your options with your healthcare providers.

Antenatal or preconception screening and testing

During pregnancy, expectant parents have the choice to undergo prenatal screening to help detect congenital anomalies. Screening tests include ultrasound scans and blood tests, such as non-invasive prenatal testing (NIPT). There are also different types of NIPT which can screen for different types of genetic anomalies.

If a screening test shows there is a high chance that a baby may have a congenital anomaly, then parents may be offered diagnostic testing, which can include further ultrasound scans, blood tests for inflections, fetal MRI, or invasive procedures such as amniocentesis or chorionic villus sampling (CVS). Diagnostic testing may also include advanced genomic testing, such as sequencing.

Carrier screening is also available as a test for couples to complete together. This screening can be done before becoming pregnant or when pregnant.

Finding an anomaly before birth can be helpful for planning pregnancy care, delivery and any treatment or monitoring after birth. Sometimes, an anomaly or condition may mean that a baby may live for a short time only, or their life may be uncertain. Other times, the anomaly may mean the baby requires surgery or treatment or may grow with disability. Sometimes diagnoses and outcomes may be clear, other times they may not. Finding an anomaly before birth means that parents can consider their options to continue or end pregnancy or seek additional support such as perinatal palliative care.

While there are benefits to detecting an anomaly before birth, the uncertainty that comes with a high chance finding or a prenatal diagnosis can be difficult to manage. Some expectant parents choose not to undergo certain types of prenatal screening or diagnostic tests.

Newborn testing

Not all anomalies can be identified before birth, and some may only become apparent when the baby is born, or later as your child grows. In the first few weeks of your baby’s life, there will be three types of checks for congenital anomalies. These are provided free of charge.

• Physical examination – a physical examination soon after birth for any differences in your baby’s growth or development such as clubfoot, cleft palate, or hip dysplasia. A maternal child health nurse and your GP will also do routine check-ups of your baby in the year of life.
• Newborn screening with a ‘heel prick test’ – for a number of serious medical conditions so families can access early treatment. For more information see Newborn bloodspot screening.
• Infant hearing screening – to detect congenital deafness. Further testing and support will be arranged if there any concerns with your baby’s hearing.

Management of congenital anomalies after birth

The treatment or management for a congenital anomaly depends on the type of anomaly or condition. Treatment options may include surgery, medication, therapy, or a combination of interventions. Early intervention and ongoing medical care can be important for improving outcomes and ensuring your child has the best possible quality of life.

Parents play a vital role in advocating for their child's healthcare needs and accessing appropriate support services. Talk to your child’s doctor about available support services, including peer support from other families living with the same condition.

Prevention of congenital anomalies

While not all congenital anomalies can be prevented, there are steps you can take to reduce the chance of certain conditions. Here are some tips for staying healthy during pregnancy.

Preconception health

Maintaining good overall health before conception helps both you and your baby. This includes aiming for a healthy weight, managing long term conditions such as diabetes or hypertension, and avoiding harmful substances like tobacco, alcohol, and recreational drugs while trying to get pregnant.

There are also Medicare-funded genetic screening tests that can tell you if you and your partner have an increased chance of a child with a serious genetic condition (carrier screening). More information can be found here:

• General health information on preparing for pregnancy
• Information about genetic carrier screening
• A maternity hospital website with resources for planning pregnancy.

Folic acid supplementation

Taking folic acid supplements before and during early pregnancy can reduce the risk of neural tube defects such as spina bifida. It's recommended that women of childbearing age take 400 micrograms of folic acid daily, ideally starting at least one month before conception.

Antenatal care

Early and regular antenatal care is provided by the public and private health systems. See your GP as soon as you think you are pregnant, ideally within the first 10 weeks of pregnancy, so you can have your pregnancy tests and preferred model of care arranged.

Your GP should offer information on nutrition, staying healthy during pregnancy, and screening tests to detect and manage any potential issues early in pregnancy. For more information see Appointments during pregnancy.

Avoiding harmful exposures during pregnancy

Some substances can increase the risk of congenital anomalies, including certain medications, environmental toxins, and infections. Seek your GP’s advice before starting or stopping any medications during pregnancy. Stay up to date with your vaccinations and ask your GP about ways to protect yourself against harmful infections such as cytomegalovirus and syphilis. For more information see Avoiding infections before and during pregnancy.

Genetic counselling and genetic carrier screening

Some health conditions are inherited, meaning they can be passed down from parents to children. Couples with a family history of genetic conditions (such as thalassemia or cystic fibrosis) should be referred for specialist genetic counseling to discuss the inheritance pattern, options for genetic testing and reproductive options.

Genetic carrier screening for three common inherited genetic conditions is now funded through Medicare. Ideally this is performed before pregnancy, but it can be done during pregnancy too. For more information see Carrier screening.

Healthy lifestyle choices

Eating a balanced diet rich in fruits, vegetables, whole grains, and lean proteins can support fetal development and reduce the risk of birth defects. Staying physically active, managing stress, and getting enough sleep are also important for staying healthy during pregnancy.

Screening and diagnostic tests

Prenatal screening tests such as ultrasound scans, non-invasive prenatal testing (NIPT) and maternal serum screening can help identify if a baby has a high chance of having an anomaly such as Down syndrome. Diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) may be recommended if there is an increased chance of a genetic condition. For more information on prenatal screening for chromosome conditions, see the YourChoice website.

While not all congenital anomalies can be prevented, following these recommendations can help optimise maternal health and reduce the chance of certain health conditions in your baby. Remember that every pregnancy is unique, and healthcare providers can offer personalised guidance and support based on individual circumstances.

Where to get help

If your baby or child has been diagnosed with a congenital anomaly, it is normal to have questions and concerns. You can get support from your healthcare team, support groups, and other parents who have faced similar challenges:

• YourChoice – a ‘decision aid’ tool to help parents explore their options and perspectives on screening for chromosomal conditions.
• Prenatal Screening – information for prospective parents and healthcare professionals who are supporting parents to make informed decisions about screening.

Australian parenting websites

• Raising Children Network – reliable information and advice on parenting children with special needs, including congenital anomalies and specific conditions. You can find articles, videos, and forums where you can connect with other parents.
• The RARE Portal – by Rare Voices Australia, includes information on rare conditions, those not typically found on parenting websites.

Specialist children’s hospital health information

• The RCH and Monash Children’s hospitals and healthcare organisations offer specialised care for children with congenital anomalies. They have online information for parents on conditions such as:
  • Hypospadias
  • Congenital heart defects
• Genetic Support Network of Victoria (GSNV) – information and support for families affected by genetic and rare diseases, including congenital anomalies. Visit their website for resources, advocacy tools, and links to support groups.

Mental health and wellbeing support

While the diagnosis of a congenital anomaly can be overwhelming, remember that you are not alone.

• Through the Unexpected – information resources and links to supports for parents who have received unexpected news about their unborn baby, including:
  • Resources on a range of topics, including coping with the news, decision-making, termination for medical reasons (TFMR), continuing pregnancy, supporting a loved one and more
  • A list of organisations who provide mental health and wellbeing support to expecting, new or bereaved parents
• Perinatal Anxiety and Depression Australia (PANDA) – resources for people experiencing anxiety and depression during pregnancy or in the postpartum period.
• MyTime – support groups for all parents and carers of children who need a higher level of care than other children. This includes children with a disability, medical needs or development delay.
• National Disability Insurance Scheme (NDIS) – support and funding for individuals with disabilities, including children with congenital anomalies. Eligible families can access services such as therapy, equipment, and support workers through the NDIS. Talk to your child’s healthcare provider about whether the NDIS can help you look after your child.