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Information on Congenital Anomalies, also known as Birth Defects

Everyone hopes to have a healthy baby, but sometimes there are concerns identified during a pregnancy that need to be followed closely. There may be abnormal results from bloodwork screens or ultrasound findings that suggest a baby might be born with a birth defect or genetic condition. Birth defects are conditions that arise from an error that occurs during the baby’s development. Some birth defects may be diagnosed during pregnancy, while others are discovered only at birth or as the baby grows. Some genetic and environmental factors are known to play a role in the development of some birth defects. Most often the cause of a birth defect is unknown. Genetic conditions or “syndromes” result from rearrangement of genetic material during a baby’s early development.

This section aims to assist mothers and their primary healthcare providers by offering easy access to information and resources.

Our website offers information about:

  • Congenital anomalies patient referral forms
  • Prenatal screening, diagnostic tests and therapies
  • Specific fetal diagnoses and related links and references
  • Information on finding a fetal medicine unit or genetic centre near you
  • Support services available to patients in Ontario and by region

For healthcare providers accessing our website, we invite you to use the information presented to supplement the care that you provide to your patients. Should you need to refer your patients to a fetal medicine unit, we have provided easy access to your regional referral forms. If you need further assistance, please contact your BORN Coordinator.

Every pregnant mother is concerned about the quality of healthcare information she receives before, during and after pregnancy. BORN Ontario shares this concern, and is therefore committed to delivering the very best information possible. The information presented here is to be used as a guide and not intended to offer specific medical advice. Every pregnancy is unique. If you have questions about your situation please speak with your healthcare provider.

Educational information for patients and parents

Congenital Cystic Adenomatoid Malformation of the Lungs (CCAM)

Educational information for professionals

Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia

Society of Obstetricians and Gynecologists of Canada

The Hospital for Sick Children in Toronto - AboutKidsHealth

The Hospital for Sick Children in Toronto - Motherisk

The Hospital for Sick Children in Toronto - Pregnancy & Babies Resource Centre

The Hospital for Sick Children in Toronto - Premature Babies Resource Centre

Vanderbuilt University - Fetal Diagnosis and Therapy

Organizations, Centres and Programs for patients and parents

Canadian Organization for Rare Disorders (CORD)

The Hospital for Sick Children in Toronto - AboutKidsHealth

The Hospital for Sick Children in Toronto - Motherisk

The Hospital for Sick Children in Toronto - Pregnancy & Babies Resource Centre

The Hospital for Sick Children in Toronto - Premature Babies Resource Centre

The University of California - The Fetal Treatment Center

Patient referral forms

Prenatal screening and fetal interventions

Prenatal Screening

Although there is no guarantee that every baby will be born healthy, there are tests that can be done during pregnancy to provide more information about the health of mothers and the condition of their pregnancies. This information can help mothers and healthcare providers ensure that babies are born in the right place and determine if they will need specialized care after birth.

When done early in pregnancy, screening tests, for example, can indicate the chances that a baby will be born with conditions such as Down syndrome or open spina bifida. Depending on the results of these screening tests, diagnostic tests can be suggested to prove whether the problem truly exists. Most women who have blood results that suggest an increased chance of having a child with Down syndrome or open spina bifida will go on to have a normal baby; however, most pregnancies with either Down syndrome or open spina bifida will be identified by screening as having a higher chance of being affected with the condition. Thus, screening tests are often helpful in determining which individuals should be offered further testing—the only way to determine if the pregnancy is affected.

Prenatal testing seeks to reassure couples about the health of their child early in pregnancy. Between 1 and 5 of every 100 newborns will have a major birth defect, many of which can be detected through prenatal testing. While some birth defects can be easily seen at birth, others - such as heart, kidney and stomach or intestinal defects - may not be detected until after the baby goes home from the hospital, only to return with a medical emergency. It has been demonstrated that the prenatal diagnosis of birth defects will likely improve the outcome for the baby.

Whether or not to have prenatal screening or prenatal diagnosis is each woman’s choice. If you are pregnant, we encourage you to discuss your options with a doctor, midwife, nurse practitioner or genetic counselor early in your pregnancy to help you decide whether testing is appropriate for you.

There are a number of prenatal screening tests and diagnostic procedures, as well as fetal interventions that may be done during pregnancy. Follow these links to find descriptions of the most common tests and procedures:


Libraries, journals and other resources



Archives of Disease in Childhood - Fetal and Neonatal Edition

Parental Support

Canadian Organization for Rare Disorders (CORD)

Ontario Association for Families of Children with Communication

Spina Bifida & Hydrocephalus Association of Ontario






Professional societies and associations

Society of Obstetricians and Gynecologists of Canada (SOGC)

Profiled sites

Canadian Congenital Anomalies Surveillance System (CCASS)

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Canadian Perinatal Surveillance System (CPSS)

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MotHERS Program

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