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Congenital heart disease

Fetal pregnancy complications


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Congenital cardiac diseases (heart defects) are the most common type of birth defects. They occur during the formation of the heart muscle. There are various kinds of problems that can arise, ranging from the simplest that cause no complications for the child to the very complex, which can be so serious that they are incompatible with life.

There are several congenital heart diseases. The most frequent are:

  • Tetralogy of Fallot
  • Pulmonary atresia
  • Transposition of great vessels (TGV)
  • Common arterial trunk disease
  • Hypoplastic left heart syndrome
  • Interventricular communication (IVC) 
  • Atrioventricular canal defect (AV canal)
  • Pulmonary artery stenosis and Ebstein’s anomaly

According to studies, congenital heart disease occurs in about 8 out of every 1,000 births. In reality, 3 or 4 out of 1,000 newborns suffer from some form of heart disease that requires medical and/or surgical attention.


In 85% of cases, congenital heart disease is of unknown origin. However, pre-pregnancy diabetes, lupus, and phenylketonuria in the mother are risk factors. A family history of heart disease also increases the risk of a heart defect in a fetus.

Around 40% of congenital heart defects are associated with a chromosomal abnormality such as trisomy 21, 18, or 13.

About 5% of heart disease is associated with a genetic syndrome.

Consumption of alcohol, anti-inflammatories, anticonvulsants, barbiturates, and lithium can also result in heart defects.

Ultrasound monitoring in fetal cardiology is planned – normally at 28 and 36 weeks of pregnancy – to evaluate the growth of the unborn baby’s heart structures.

Tests and procedures

When there is suspicion of heart disease at the 2nd or 3rd trimester ultrasound, a fetal echocardiography in a tertiary hospital is recommended between the 18th and 22nd week of pregnancy, or even later in the 3rd trimester, to confirm and identify the type of heart disease.

Following the confirmation of a diagnosis of congenital heart disease, a meeting with the genetic team is recommended to evaluate the associated risks of chromosomal abnormalities and/or a genetic syndrome. Amniocentesis is performed for further genetic analysis.

Treatment and follow-up

The monitoring of the pregnancy as well as the delivery must be done in a specialized centre. The antenatal care of the mother and the unborn baby is done by a multidisciplinary team that includes an obstetrician specialized in fetal-maternal medicine, a geneticist, a pediatric cardiac surgeon, a pediatrician neonatologist, a radiologist, a radiology technician, and a clinical nurse. Several other professionals such as a psychologist or a lactation consultant can also join the team according to individual needs.

At the birth of the baby, immediate steps are taken by the neonatology team to monitor and support cardiac and respiratory function. Depending on the type of heart disease, surgery may be possible as soon as within the first days after birth or sometime within the first year of the baby’s life. 

Resources and useful links

Robert K. Creasy, Robert Resnik et coll. Creasy & Resnik’s Maternal-Fetal Medecine : Principle and Practice. 7e ├ędition, Elsevier Canada, 2014.

Page by

Chantal Larcher, inf. clinicienne et Dre Lucie Morin

About this page
Updated on 1/25/2021
Created on 12/18/2017
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