More efficient prenatal Down’s syndrome test rings alarm bells

A mother holding a baby boy with Down's syndrome.

Image – Shutterstock: Tatiana Diuvbanova

Researchers at Royal Bolton Hospital have announced a world first in the use of artificial intelligence to improve the accuracy of prenatal screening for Down’s syndrome. While the development has been welcomed in the medical field as a technical breakthrough, it also throws an uncomfortable spotlight on why such refined testing exists in the first place.

In the UK, around 90 per cent of babies diagnosed with Down’s syndrome in the womb are aborted. Against that backdrop, advances which make it easier to identify babies with the condition inevitably raise profound ethical questions about what society is doing with the information it so carefully gathers.

The Bolton research uses AI to analyse the data already collected through routine first-trimester blood tests and ultrasound scans. Traditionally, clinicians combine biochemical markers with maternal factors such as age, smoking status, and diabetes to estimate whether a baby has a higher chance of having Down’s syndrome, also known as trisomy 21. Mothers deemed “high risk” are then offered further, often invasive, tests.

The new AI model aims to read that same data more accurately, ensuring that only pregnancies with the highest likelihood of Down’s syndrome are referred for additional testing. Researchers say this reduces unnecessary procedures and the associated miscarriage risk.

Jamie Osborne, Principal Clinical Scientist at Bolton NHS Foundation Trust, said the project grew naturally from laboratory work with large datasets. “We’re always working with numbers and vast databases in the labs, and with the rapid growth of AI it felt like an opportunity to use the technology to interpret and identify patterns in numbers that we might not be able to see,” he said.

Osborne added that the achievement was unprecedented. “We are the first people to ever manage to do this successfully, meaning we are the first place in the world to do this and also the first place in the world to publish a journal about this.”

Bolton NHS Foundation Trust hosts the second-largest antenatal screening laboratory in the country and is currently the highest-performing laboratory in England for this service. Researchers stress that the work is still at an early, proof-of-concept stage, but say initial results are encouraging.

“The response has been really positive and the more data we can generate, the more accurate the testing and theory will become,” Osborne said. “At this stage it’s a proof of concept, but this has given us the confidence that we can use biochemical data to improve accuracy, health outcomes, and services.”

Yet disability advocates and pro-life campaigners argue that improved detection cannot be separated from how the results are used. In a country where a Down’s syndrome diagnosis overwhelmingly leads to abortion, refining screening risks reinforcing a culture in which children with disabilities are quietly discarded of before birth.

SPUC CEO, John Deighan, says, “Children with Down’s syndrome are systematically destroyed in the womb in this country and no matter how much the medical profession may celebrate this advancement in technology it’s obvious what its purpose is—more effective extermination. SPUC is proud to stand for the rights of every child when the health services supposed to look after them don’t and will continue to do so until they are protected in law.”


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