Non-invasive, risk-free screen for Down syndrome
Researchers at Curtin University have assessed the use of a new non-invasive prenatal testing (NIPT) technique to identify Down syndrome in foetuses. They have published their study in the Australian and New Zealand Journal of Obstetrics and Gynaecology.
Down syndrome occurs at conception and is caused by a third copy of chromosome 21. Professor Peter O’Leary, deputy director at Curtin’s Centre for Population Health Research, said it is the most common chromosome abnormality in humans.
“Expectant mothers are offered a screening test in their first trimester to estimate the risk of their foetus having Down syndrome,” Professor O’Leary said. “Those found to have a high risk are offered diagnostic testing.”
But current diagnostic tests, such as amniocentesis, “are invasive and carry a small risk of miscarriage”, Professor O’Leary said. Furthermore, he stated, 75% of women choose to undergo such testing following a high-risk result.
The researchers thus sought “to analyse how cost-effective it would be to include a new non-invasive prenatal test as a second-tier test to provide a more accurate risk estimate, prior to offering invasive testing”. They applied their model to 32,478 single-baby pregnancies screened between January 2005 and December 2006 in Western Australia, adding Medicare rebate data as a measure of public health system costs.
The researchers state in their study, “The introduction of NIPT would reduce the number of invasive diagnostic procedures and procedure-related foetal losses in high-risk women by 88%.” Professor O’Leary added that “if all pregnant women identified as high-risk adopted this non-invasive testing method, up to seven additional cases of the genetic disorder could be confirmed during pregnancy over two years”.
The non-invasive test is currently available only in the private health sector in Australia. The researchers acknowledge that were it introduced to the public health system, the cost to the system for Down syndrome screening would rise by 9.7%.
“Policy planning and guidelines are urgently required to manage the funding and demand for NIPT services in Australia,” the researchers concluded.
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