Australian Institute of Health and Welfare (2022) Congenital anomalies 2016, AIHW, Australian Government, accessed 07 July 2022.
Australian Institute of Health and Welfare. (2022). Congenital anomalies 2016. Retrieved from https://www.aihw.gov.au/reports/mothers-babies/congenital-anomalies-in-australia-2016
Congenital anomalies 2016. Australian Institute of Health and Welfare, 01 April 2022, https://www.aihw.gov.au/reports/mothers-babies/congenital-anomalies-in-australia-2016
Australian Institute of Health and Welfare. Congenital anomalies 2016 [Internet]. Canberra: Australian Institute of Health and Welfare, 2022 [cited 2022 Jul. 7]. Available from: https://www.aihw.gov.au/reports/mothers-babies/congenital-anomalies-in-australia-2016
Australian Institute of Health and Welfare (AIHW) 2022, Congenital anomalies 2016, viewed 7 July 2022, https://www.aihw.gov.au/reports/mothers-babies/congenital-anomalies-in-australia-2016
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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).
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.
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:
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:
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:
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).
AIHW (Australian Institute of Health and Welfare) (2021a) Stillbirths and neonatal deaths in Australia 2017 and 2018, Perinatal statistics series no. 38, Cat. no. PER 115, Canberra: AIHW.
AIHW (2021b) General Record of Incidence of Mortality (GRIM) books [data set], Canberra: AIHW, accessed 30 August 2021.
CDC (Centers for disease Control and Prevention) (2020) Birth Defects Surveillance Toolkit, CDC website, accessed 23 June 2020.
IHPA (Independent Hospital Pricing Authority) (2019) Classification of diseases and interventions, IHPA website, accessed 23 June 2021.
WHO (World Health Organization) (2020) Congenital anomalies, WHO website, accessed 23 June 2021.
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