Large Ontario study improves understanding of rare prenatal screening findings

16/10/2026

Ottawa, Ontario — Friday October 16, 2026

Prenatal screening tests provide families with important information about a baby’s health during pregnancy. Most results come back as either low risk or high risk for certain chromosomal conditions. But in rare cases, a test returns an atypical result – a finding that can leave families with questions about what it means for them, and their baby.

A new study led by Kara Bellai-Dussault, Christine Armour and the BORN Ontario team looked at data from more than 53,000 pregnancies to better understand what atypical prenatal screening results may mean for pregnancy outcomes.

The researchers found that atypical results occurred in less than one per cent of pregnancies, but when they did occur, they were more likely to be associated with chromosomal abnormalities than other pregnancies.

As the first population-based study of its kind, the findings help fill an important gap: for clinicians, they provide clearer guidance for interpreting atypical results. For families, they offer clearer information about possible next steps after an atypical result, including additional testing and specialist referrals, supporting a more informed and personalized pregnancy care journey.

Learn more about this study.

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