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Caution urged on growing use of prenatal genetic tests

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The article’s lead author, Dr Joseph Thomas, a senior specialist in maternal-fetal medicine at Mater Health Services in Brisbane, said the extended panels offered very low accuracy rates for many conditions.

“For example, there’s a particularly awful condition called DiGeorge syndrome … that has a very poor predictive value. [In the extended panel test] it’s close to 20 per cent,” Dr Thomas said.

“That means if you have five women whose babies test positive for the condition, only one will likely be positive, while the rest have had to wrestle with this terrible diagnosis without needing to.”

The testing can be done from 10 weeks’ gestation – before even the first ultrasound at up to 12 weeks.

Dr Thomas said none of the…



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