HIGH FINANCIAL COSTS and uneven geographical coverage present barriers to expecting parents in Ireland who want to access non-invasive prenatal testing for chromosomal differences, a new study has found.

A national screening programme for chromosomal conditions should be considered to ensure equitable access to testing and boost the availability of reliable information, researchers from University College Cork concluded.

Non-invasive prenatal testing (NIPT) is an accurate screening test for chromosomal conditions such as trisomy 21 (Down Syndrome), trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome). The latter two conditions are considered fatal foetal anomalies, meaning they are likely to result in death in utero or in infancy.

According to the HSE’s 2023 National Clinical Practice Guideline on foetal anatomy ultrasound, NIPT is the “single best screening test” for these conditions.

However, it is not offered through the free public maternity service in Ireland. 

It is available to all pregnant women in Belgium and the Netherlands as part of national screening programmes there, while in 12 other European countries (including the Nordic states, France and Wales) it’s offered based on risk assessment after first trimester screening.

Used appropriately, NIPT increases detection rates for chromosomal differences and lowers the number of invasive tests required. It comprises an ultrasound scan and a blood test: during pregnancy, some of the baby’s DNA passes into the mother’s bloodstream, and this can be used to screen for genetic conditions.

NIPT can be performed early in pregnancy, usually from nine or 10 weeks. By contrast, the foetal anomaly ulstrasound scan provided to all patients through the public system in Ireland is performed at 20-22 weeks.

Currently, expecting parents can pay between €380 and €650 for NIPT through 20 private obstetric clinics, or at four of the 19 maternity hospitals, which offer this service. The tests are also available at ultrasound clinics, through direct-to-consumer lab testing, and via GPs.

The majority of the providers offering NIPT were located in urban centres, with Dublin and Cork being the main locations, the researchers noted.

“Barriers to accessing NIPT testing include the cost of testing, location of providers, and a lack of appropriate information to allow pregnant people to make informed choices,” the researchers said.

They noted a 2022 Irish survey which indicated 80% of women would avail of NIPT if it were free.

The researchers said the information available online from providers of NIPT in Ireland was “often incomplete” and they identified low availability of pre-test counselling or information on support groups on chromosomal conditions. 

“This inequitable access to both NIPT and information on NIPT needs to change,” the researchers said.

“Reproductive autonomy in Ireland can be further enhanced by the introduction of a national prenatal screening programme. This would standardise access to NIPT and provide pregnant women with information that is accurate and complete.”

The introduction of a national pre-natal 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 researchers said.

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