NEW YORK (GenomeWeb) – Researchers from the UK and the Netherlands have reported results from national studies involving noninvasive prenatal testing, the findings of which could potentially influence how NIPT is offered in those countries.
The researchers presented their study results at the European Society of Human Genetics conference this weekend in Glasgow, Scotland.
The UK study, led by the National Institute of Health Research, will be presented to the UK National Screening Committee later this month and could help inform the committee's decisions on how to implement NIPT into the National Health Service's screening program for Down's syndrome.
Meanwhile, researchers from the VU Medical Centre Amsterdam presented results from the Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing (TRIDENT) study, which evaluated NIPT in 3,306 high-risk pregnant women.
In the UK study, women at high and medium risk for having a child with Down's syndrome were offered noninvasive testing, of which 2,500 consented.
Lyn Chitty, a professor at University College London's Institute of Child Health and Great Ormond Street Hospital, which is an NHS hospital, led the UK study. She said in a press release that there was a "high uptake" of the test and that it led to a drop in invasive testing, which has a risk of miscarriage.
"The cost of providing a NIPT service will depend on the cost of the test itself and how it is implemented. There will be significant savings resulting from a decrease in invasive testing whilst increasing the detection of affected babies," she added.
The same group also evaluated noninvasive prenatal diagnosis for congenital adrenal hyperplasia, an autosomal recessive disorder that leads to a female fetus having masculinized genitalia. Suzanne Drury, a translational research and development scientist at Great Ormond Street Hospital, said that since the group was already doing noninvasive prenatal testing for sex determination and there is a potential for in utero treatment for CAH, it was a good condition to select for.
Drury said that NIPD of CAH was "sufficiently precise to be diagnostic" and that the lab is developing "non-invasive diagnostic tests for other conditions caused by mutations in a single gene, including cystic fibrosis, sickle cell anemia, and beta-thalassaemia."
Separately, researchers from the Netherlands reported results from their national study on NIPT for high-risk women. After nine months, 3,306 high-risk pregnant women had undergone NIPT and 3,278 reports had been issued. The researchers found 89 cases of trisomy 21, 11 cases of trisomy 18, and 10 cases of trisomy 13. Follow up of 103 cases revealed nine false positives.
A second part of the study surveyed women on their testing preferences and found that the majority preferred NIPT, Erik Sistermans, head of the genome diagnostics department at VU Medical Centre Amsterdam, said in press release. "It seems likely that the demand for this test will increase over the years to come," he added, which will drive prices down.
The Dutch Health Ministry had previously granted the group a two-year license to conduct its study, and they expect the health ministry to continue to offer NIPT as a second-tier test to women at high risk of fetal aneuploidy.
"Whether NIPT will be offered as a first screening test to all pregnant women is currently under debate, and will depend partly on the reaction of the health ministry to our study," Sistermans said. "Based on our findings, the TRIDENT consortium believes this test can benefit all pregnant women, not just those who are identified as being at risk, and has applied for a license to offer it to them."