A study to assess the frequency of other abnormalities in unborn babies diagnosed with Tetralogy of Fallot

Program Type (Grant): Summer Studentship Award
Applicant Name: Sharma, Rishav
Competition Cycle: 2020-02
Start Date: 2020-05-01
End Date: 2020-08-31
Supervisor Name: McBrien, Angela
Institutional Sponsor: Medicine & Dentistry-Pediatrics
Supervisor Faculty / Department: Medicine & Dentistry-Pediatrics
WCHRI Funder: SCHF
Total WCHRI Funding Commitment: $3,900.00

Tetralogy of Fallot is a heart condition which develops before a baby is born, and is one of the most common heart conditions diagnosed in unborn babies. Babies with tetralogy of Fallot require heart surgery within the first 6-9 months of life to repair the heart condition. Unfortunately, babies with tetralogy of Fallot are at risk of having other significant birth defects, including problems with other organs (e.g. kidneys, bowel or skeleton) or even genetic problems (these are abnormalities of the baby's cells, which impact on how their body develops). When an unborn baby is given a diagnosis of a heart abnormality, it is important for the fetal cardiology team (who look after these babies before birth) to be able to give families accurate information on the risk of their baby having another birth defect or a genetic problem. In the last decade, major developments in genetic testing (tests to find out if there is an abnormality of the baby's cells), have increased the amount of genetic problems that can be identified. In addition, there has been a significant improvement in the detection rate for tetralogy of Fallot before birth. The combination of these factors means that substantially more cases of tetralogy of Fallot are being diagnosed before birth and the information we have from the past on the rate of genetic problems and other birth defects is not reliable in the current era. We propose to investigate the rate of genetic problems and other birth defects in the patients we have diagnosed before birth with tetralogy of Fallot over the last 8 years. This information will help us to accurately counsel parents of future unborn babies who are diagnosed with this heart problem. It is important for us to have this information, as families will use this information both to make decisions about the pregnancy and to understand what to expect from the future for their baby.