Piloting an antenatal Carrier Testing Study for Galactosaemia amongst the Irish Traveller Population

The team in CHI piloted an antenatal Galactosemia testing study in conjunction with Pavee point (Traveller advocacy group) and the Rotunda hospital, funded through the Children’s Health Foundation. The testing was done, in house, in the molecular laboratory in CHI at Crumlin with Professor Sally Ann Lynch, the Principal Investigator.

The study period is ongoing 01/12/2024- 31/5/2026, the first 3 months were to promote the study, develop the testing request forms and reports and educate referrers. The recruitment period spanned 12 months and the aim was to offer carrier testing to the women first and, if they tested positive, to offer the test to their partner. The final 3 months are being used to survey the women notified to our study and collate the data.

We were notified of 119 pregnancies to 118 women in the 12-month recruitment period (01/03/2025-28/02/2026). 44/118 women opted for testing (37%) and 3 women tested positive, all 3 partners agreed to testing. One couple were carriers and their baby was subsequently born with Galactosemia. The other 2 partners tested negative so the couple could be reassured. This meant that 43/44 couples were assured and can feed their babies whichever way they want for future. No one has breast fed their baby yet (n=~50 born so far). 30 women were not interested in being tested, a further 23 were not contactable, 12 others went into premature labour or changed maternity hospital. A further 9 consented to being tested, 5/9 women just prior to study end so they may still come forward for testing, the remaining 4/9 did not attend phlebotomy prior to delivery.

One of the women who tested positive encouraged her sister and cousin to come forward for testing. The team felt that this is a positive sign suggesting that the women who tested positive still felt benefit from being tested despite being shown to be a carrier. In addition, Pavee Point, our partners in this study, have not reported any negative feedback from their contacts. All 3 partners of test positive women came forward for testing as soon as possible which is also a very positive sign.

In summary, our study has shown there is an appetite for testing amongst Irish Traveller women with ~1/3 opting for testing. Whilst no one has yet opted to breastfeed, we feel that this is just one barrier to breastfeeding and every little step forward is welcome. We would be very keen for this test to be offered to Traveller women nationally.

We thank the anonymous donor who supported this work through our Children’s Health Foundation.