Congenital Anomalies in Canada

Updated in Fall 2023 and now includes Quebec data

Description

Congenital anomalies, also known as birth defects, congenital disorders or congenital malformations, are usually structural or functional in nature. They are identified prenatally, at birth, or sometimes may only be detected later in life. Approximately 50% of all congenital anomalies cannot be linked to a specific cause; however there are some known risk factors which include genetics and environmental contaminants.

Congenital anomalies are the leading cause of infant mortality, resulting in significant long term impacts on individuals, families and health-care systems. This makes them an important perinatal health issue. Public health strategies such as folic acid fortification and supplementation have proven useful in Canada to prevent neural tube defects. Maintaining national surveillance data is a core role of the Public Health Agency of Canada (PHAC) and crucial in preventing and controlling congenital anomalies and other adverse perinatal outcomes (1). It serves to provide timely identification of epidemiological trends, estimate the burden of congenital anomalies, shed light on potential risk factors and guide research.

The Congenital Anomalies data tool was developed by the Canadian Congenital Anomalies Surveillance System (CCASS) to present prevalence rates, temporal trends and certain factors associated with congenital anomalies in Canada, using data from the Discharge Abstract Database of the Canadian Institute for Health Information as well as data from the Quebec congenital anomalies program, which utilises the Maintenance et exploitation des données pour l'étude de la clientèle hospitalière (MED-ÉCHO). This resource is a collaborative effort between the Public Health Agency of Canada, the Canadian Perinatal Surveillance System’s External Advisory Committee and the Canadian Congenital Anomalies Surveillance Provincial and Territorial Network.

The data presented here provides an overview of 38 selected congenital anomalies (grouped into 12 categories) in Canada from 2006 to 2020 using a follow-up period of one year after birth, with the exception of data from Quebec which includes data from 2008 to 2020. This updated version of the data tool has been modified from previous versions and the data is presented by ‘confirmed’ and ‘suspected’ status where possible. Suspected cases are identified by a prefix in the database which indicates that there may be some uncertainty in the diagnosis. Confirmed cases do not include this prefix and are assumed to be established diagnoses.

The table below provides a summary of the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, Canada (ICD-10-CA) codes used for each anomaly/group of anomalies. Data with small cells (under 5) have either been suppressed or combined. Additional information on specific conditions can be requested through CCASS.

Reference

1. Congenital Anomalies in Canada 2013. A Perinatal Heath Surveillance Report. Public Health Agency of Canada. Ottawa 2013.

Data Map

Click on ✔ to view detail data.
Label
Anomaly ICD-10-CA codes Map Trend Province/Territory Infant sex Maternal age
Neural Tube Defects - - - - -
Neural Tube Defects Q00, Q01, Q05 if not Q00.0 (an infant with more than one of these Q codes is only counted once)
Spina Bifida without anencephaly Q05 if not Q00.0 - - -
Anencephaly Q00 - - -
Encephalocele Q01 - - -
Selected genital anomalies - - - - -
Selected genital anomalies Q53.1, Q53.2, Q53.9, Q54 (excluding Q54.4), Q56, Q64.0 (an infant with more than one of these Q codes is only counted once)
Selected congenital heart defects - - - - -
Selected congenital heart defects Q20.0, Q20.1, Q20.3, Q20.5, Q21.2, Q21.3, Q23.4, Q25.1 (an infant with more than one of these Q codes is only counted once)
Transposition of great vessels Q20.1, Q20.3, Q20.5 - - -
Endocardial cushion defects/AVSD Q21.2 - - -
Tetralogy of Fallot Q21.3 - - -
Hypoplastic left heart syndrome Q23.4 - - -
Coarctation of aorta Q25.1 - - -
Common Truncus Q20.0 - - -
Limb deficiency defects - - - - -
Limb deficiency defects Q71-Q73 (an infant with more than one of these Q codes is only counted once)
Oro-facial clefts - - - - -
Oro-facial clefts Q35 (excluding Q35.7), Q36, Q37 (an infant with more than one of these Q codes is only counted once)
Cleft palate only Q35 (excluding Q35.7) - - -
Cleft lip only Q36 - - -
Cleft lip with or without cleft palate Q36, Q37 - - -
Diaphragmatic hernia - - - - -
Diaphragmatic hernia Q79.0
Selected abdominal wall defects - - - - -
Selected abdominal wall defects Q79.2, Q79.3 (an infant with more than one of these Q codes is only counted once)
Omphalocele/Exomphalos Q79.2 - - -
Gastroschisis Q79.3 - - -
Selected gastrointestinal defects - - - - -
Selected gastrointestinal defects Q39.0-Q39.4, Q41, Q42.0-Q42.3, Q43.1, Q44.2 (an infant with more than one of these Q codes is only counted once)
Oesophageal atresia/stenosis, tracheoesophageal fistula Q39.0-Q39.4 - - -
Small intestine absence/atresia/stenosis Q41 - - -
Ano-rectal absence/atresia/stenosis Q42.0-Q42.3 - - -
Hirschsprung disease Q43.1 - - -
Atresia of bile ducts Q44.2 - - -
Selected chromosomal defects - - - - -
Selected chromosomal defects Q90, Q91.0-Q91.3, Q91.4-Q91.7, Q96 (an infant with more than one of these Q codes is only counted once)
Down Syndrome Q90 - - -
Trisomy 13 (Patau) Q91.4-Q91.7 - - -
Trisomy 18 (Edwards) Q91.0-Q91.3 - - -
Turner syndrome Q96 - - -
Other central nervous system defects - - - - -
Other central nervous system defects Q03, Q04.1, Q04.2 (an infant with more than one of these Q codes is only counted once)
Hydrocephaly Q03 - - -
Arhinencephaly/Holoprosencephaly Q04.1, Q04.2 - - -
Selected urinary tract defects - - - - -
Selected urinary tract defects Q60.0-Q60.2, Q61.1-Q61.5, Q61.8, Q61.9, Q64.1, Q64.2, Q64.3 (an infant with more than one of these Q codes is only counted once)
Renal agenesis Q60.0-Q60.2 - - -
Cystic kidney Q61.1-Q61.5, Q61.8, Q61.9 - - -
Bladder and cloacal exstrophy Q64.1 - - - -
Lower urinary tract obstruction Q64.2, Q64.3 - - -
Selected sense organ defects - - - - -
Selected sense organ defects Q11.0, Q11.1, Q11.2, Q16.0, Q17.2, Q30.0 (an infant with more than one of these Q codes is only counted once)
Anophthalmos/Microphthalmos Q11.0, Q11.1, Q11.2 - - -
Anotia/Microtia Q16.0, Q17.2 - - -
Choanal Atresia Q30.0 - - -
Date modified:
2023-10-03