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Asia Pacific Healthcare Group (APHG) has gone live with New Zealand’s first Non-Invasive Prenatal Screening (NIPS) technology to use whole-genome sequencing.
The screen can analyse every chromosome of an unborn baby and detect a wide range of genetic conditions from a non-invasive single blood test as early as 10 weeks.
APHG Pathologist Dr Melissa Yssel says Illumiscreen, the name of APHG’s service in New Zealand, can screen the whole genome (all 23 chromosome pairs) of an unborn baby which allows screening for a much wider range of chromosome conditions.
“We have been able to screen for Down syndrome, Edwards syndrome and Patau syndrome in New Zealand for quite some time. However, with whole-genome sequencing technology available locally, we can detect more conditions such as Jacob syndrome, Triple-X, Angelman, DiGeorge, Prader-Willi syndrome and Wolf-Hirschhorn syndromes.”
Dr Yssel says people have been able to use similar services in New Zealand which send their blood sample overseas for screening, so having the screen performed in the country is significant.
“For soon-to-be parents, screening the DNA of their unborn babies in New Zealand means their baby’s DNA, their results, and the mother’s blood sample remains in the country and the time it takes for results is much faster.
“We know keeping DNA samples and data in New Zealand is particularly important to retain data sovereignty for Māori. It also gives many of our clients a sense of assurance their information is secure and staying local.”
Dr Yssel says Illumiscreen is safe for the baby due to the non-invasive nature of only needing a single blood test from the mother and results delivered within 5 to 7 days.
“As the baby grows, their DNA is released from the placenta into the mother’s bloodstream, and it becomes ‘free-floating’. When we take a sample of the mother’s blood and analyse it, we can see this free-floating DNA and detect when there are too many, too few, missing or duplicated pieces of chromosomes.
“Because we can analyse all the chromosomes, it also means parents can find out the sex of their baby as early as 10 weeks, if they didn’t want to wait until their 18-20 week scan.”
APHG’s Chief Executive Anoop Singh says the APHG laboratory network enables us to develop centralised teams for this type of specialist work while making it available nationwide.
“Using our national network, partnerships, and capability to safely transport samples across the country, we’re able to make the service widely available in New Zealand, while being processed through a local centralised specialist team,” says Anoop Singh.
More information about Illumiscreen is available at www.illumiscreen.co.nz
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