Congenital anomalies in Australia

Congenital anomalies are a cause of child death and disability, and a major cause of perinatal death—where a baby is stillborn or dies within 28 days of birth. In 2017 and 2018, nearly one-third (31%) of perinatal deaths in Australia were caused by a congenital anomaly (AIHW 2021a). From 2000–2019, there were around 12,000 deaths in Australia due to a congenital anomaly and half (50%) of these were children aged 0–4 (AIHW 2021b).

About this report

This report presents information on congenital anomalies in babies born in 2016 that were diagnosed up to 12 months of age. It uses data supplied by 6 jurisdictions to the National Congenital Anomalies Data Collection (NCADC) and is the first congenital anomalies data to be reported by the AIHW since 2008. Data for 2016 were provided by all jurisdictions, except Western Australia and the Northern Territory. 

What congenital anomalies are included?

Reporting focuses on anomalies that have significant medical, social or cosmetic outcomes for an individual (as agreed by the National Congenital Anomaly Advisory Group). Over 400 congenital anomalies are counted as inclusions (see 'Reporting inclusions'). The following should be kept in mind when reading this report:

  • There are differences in the way cases of congenital anomalies are identified across jurisdictions, and this may affect jurisdictional and national counts (see ‘Technical notes’ for more information).
  • The scope of this report means the numbers and rates presented will underestimate the prevalence of congenital anomalies (see ‘Methods’ for more information).
  • Data presented are not directly comparable to previous reports published in 2006 and 2008 due to differences in scope, including for example the anomalies reported on and the period of notification used for reporting.

What is a congenital anomaly?

Congenital anomalies encompass a wide range of atypical bodily structures or functions that are present at or before birth, although they may not be detected until later in life. Some examples include neural tube defects, heart defects, cleft lip/palate and chromosomal anomalies such as Down syndrome. Some anomalies may be treated surgically or with non-surgical options; others are life-threatening and cannot be treated or may cause lifelong impacts (WHO 2020). Congenital anomalies:

  • may have significant medical, social or cosmetic outcomes for an individual
  • are major causes of fetal, infant and child deaths, chronic illness and disability
  • typically require medical intervention (CDC 2020).

How are they diagnosed?

Many congenital anomalies are diagnosed at birth or during the first week of life; some are diagnosed during pregnancy, and some do not become obvious until later in life.

Many anomalies are diagnosed by a physical examination of the baby and observation of their initial health. Other anomalies are diagnosed by blood tests (including chemical analysis or chromosome testing) or imaging (X-ray and ultrasound). Increases in genetic testing mean congenital anomalies are being identified after a diagnosis of a genetic condition is made.

Prior to birth, anomalies may be diagnosed by prenatal ultrasound or invasive testing (amniocentesis and chorionic villus sampling). These tests may be part of routine antenatal care or recommended because of findings on a screening ultrasound or because of maternal characteristics such as age and family history.

Prenatal diagnosis may allow for planning of pregnancy management, including:

  • pregnancy surveillance around the growth and welfare of the baby
  • the appropriate site of birth near a specific health-care facility
  • providing information that assists with decisions around whether to continue a pregnancy.

How are they classified?

Congenital anomalies are classified by body system, such as nervous system, circulatory system, respiratory system and urinary system. While several classifications are available, the NCADC classifies anomalies according to the ninth edition of the International statistical classification of diseases and related health problems, 10th revision, Australian modification (ICD-10-AM) (IHPA 2019).