PEOPLE ON HIGHER incomes have greater access to the best prenatal screening, the HSE maternity care chief warned in 2023. 

Non-invasive prenatal testing is an accurate form of screening for chromosomal conditions such as Edwards Syndrome and Patau’s Syndrome, fatal foetal anomalies likely to result in death in utero or in infancy.

The tests are only available privately, except in a few exceptional cases, and cost hundreds of euro.

The HSE told The Journal in recent days that it is now developing a proposal to incorporate this testing into routine maternity care in Ireland, with a view to providing “equitable access…for all pregnant women”.

Dr Cliona Murphy, then-clinical director of the National Women and Infants Health Programme, raised inequitable access to this testing with the National Screening Advisory Council in January 2023. The correspondence was released to The Journal under freedom of information.

Murphy told the committee, which advises the Minister for Health on population-based screening programmes, that it could suggest that the HSE establish a national programme, based in the public maternity system.

However, two years later, this testing remains available only to expecting parents who can pay, with some private health insurance plans covering a portion of the bill.

The HSE proposal to widen access to this care is being drafted by the National Women and Infants Health Programme and by a group implementing the recommendations of the O’Shea and Regan reviews of abortion services.

Both reviews called for a national programme for prenatal testing for common chromosomal conditions, with the Regan review criticising “unregulated, inequitable access to commercially provided screening tests…without the protection of the governance or quality assurance that would come from a structured screening programme”.

The HSE said a final decision on whether to proceed with such a programme will depend on “national priorities” and the availability of resources, as well as “broader health policy”.

The Department of Health said that the National Screening Advisory Council decided to “defer consideration” of proposals it received in 2021 and 2022 to introduce first trimester prenatal screening for chromosomal and congenital conditions. This deferment followed “careful consideration” of the National Women and Infant Health Programme’s 2023 advice, it said.

The Department said the deferment was also based on consideration of “associated ethical issues related to screening for these conditions”. It declined to specify what these ethical issues were.

‘Single best screening test’

Non-invasive prenatal testing is deemed the “single best screening test” for chromosomal conditions in the HSE’s 2023 clinical guidelines on foetal anatomy ultrasound.

It comprises a blood test accompanied by an ultrasound scan, and is sold under brand names including Harmony and Panorama.

During pregnancy, some foetal DNA passes into the mother’s bloodstream, and this can be used to screen for genetic conditions, such as Down Syndrome.

Recent research by University College Cork found these tests currently cost between €380 and €650 at private obstetric clinics and at four of the 19 maternity hospitals. Ultrasound clinics and some GPs also offer the tests.

The researchers warned that access to the tests and to information on the tests was “inequitable” and said a national screening programme would improve reproductive autonomy.

In her correspondence with the National Screening Advisory Council (NSAC), Dr Cliona Murphy described provision of non-invasive prenatal testing in Ireland as “unstructured and random”.

She said the tests were “more likely” to be accessed by parents who were well educated, as “prior knowledge” was required.

Given that access is “contingent on ability to pay”, the tests are “more accessible [to] those on higher incomes”, she added in a letter to NSAC.

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A national screening programme would ensure information on screening was standardised and people who received high-risk results could access “high quality diagnostics”, Murphy said. She added that such a programme would be on an opt-in basis, meaning women would not have to avail of it if they chose otherwise.

Earlier testing

Non-invasive prenatal testing can be performed early in pregnancy, usually from nine or 10 weeks. By contrast, the foetal anomaly ultrasound scan provided to all patients through the public system in Ireland is performed at 20-22 weeks. Some women who learn after 20-22 weeks of a fatal foetal anomaly could have discovered this earlier had they had access to non-invasive prenatal screening at 10 weeks.

The introduction of a national prenatal screening programme in the Netherlands, with an uptake rate of approximately 46%, has led to earlier diagnosis of major foetal anomalies with a significant reduction in late termination of pregnancy, the UCC researchers said.

The American College of Obstetricians and Gynecologists recommends offering prenatal screening to all pregnant people regardless of maternal age or risk.

The NSAC requested advice from the National Women and Infants Health Programme on prenatal testing in 2022.

The NSAC received calls for the introduction of a population-based screening programme for chromosomal conditions in 2021 and 2022.

The Department of Health said that another call for submissions to the NSAC will be launched later this year.

“Should new evidence have emerged” on screening for chromosomal conditions, “NSAC would be open to receiving an updated proposal”, the Department said.