Latest news with #Patau'sSyndrome
The Journal
21-04-2025
- Health
- The Journal
Maternity care chief warns wealthy families have greater access to the best prenatal screening
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'. Advertisement 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. Related Reads 'I'll never forgive my country': Women on the trauma of having to travel to UK for terminations Irish parents face difficulties accessing prenatal testing for chromosomal conditions 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. Readers like you are keeping these stories free for everyone... A mix of advertising and supporting contributions helps keep paywalls away from valuable information like this article. Over 5,000 readers like you have already stepped up and support us with a monthly payment or a once-off donation. Learn More Support The Journal
BBC News
16-02-2025
- Health
- BBC News
Couple believe law was broken in Nottingham abortion sign-off
A couple who went through with an abortion after being mistakenly told their unborn daughter had a serious genetic condition believe doctors did not follow the Wesson and Carl Everson terminated their pregnancy in 2019 after being advised by Nottingham University Hospitals (NUH) NHS Trust that their daughter had Patau's syndrome - which often results in miscarriage, stillbirth, or the baby dying shortly after birth - but she did not have order for an abortion to proceed, two doctors have to sign a legal document but the couple believe one of the doctors was not made aware of the circumstances of the are examining the case as part of a wider review of maternity failures at the trust, which said there was nothing to indicate the second doctor "did not have access to all relevant information". Ms Wesson, 43, and her partner Mr Everson, 47, were expecting their first child when in January 2019, a blood screening test indicated their baby had a high chance of having a chromosomal were offered a further test, known as chorionic villus sampling (CVS), to check their baby's days later, the foetal care team at City Hospital in Nottingham told them the initial results indicated their daughter had a rare genetic condition called Patau's Syndrome, which often results in miscarriage, stillbirth, or the baby dying shortly after birth. Ms Wesson and Mr Everson say they had a conversation shortly afterwards with a foetal care say they were told their baby would be left with severe care needs, and that it might not survive the from a more detailed analysis of the sample were due back two weeks later. The couple asked if it might show a different outcome, but they say their consultant advised them it would on the advice that their daughter had a fatal foetal abnormality, which would be incompatible with life, the couple decided to have an weeks after, Ms Wesson and Mr Everson were called to a meeting at City Hospital where they were told the second test showed their unborn daughter had no chromosomal abnormality. Regulations published in 1991 require the two doctors to agree to the termination on the same grounds, although the two-signature requirement does not apply in an emergency. Further guidance issued by the British Medical Association in 2020 says the Abortion Act requires the signatures of two registered medical practitioners on a form "confirming that in their opinion, which is made in good faith, the terms of the Abortion Act have been satisfied". 'I'd still have my daughter' Ms Wesson said when the couple decided to move forward with the termination at 14 weeks, their consultant "offered to end the [pregnancy] that day"."So there was no opportunity for them to speak to the other doctor, to consult anyone about the results. She offered us the medication," she added. The trust investigated Ms Wesson and Mr Everson's it found a number of mistakes had contributed to the termination, the investigation did not question the circumstances surrounding the signing of the paperwork. "He [the second doctor] was never interviewed, investigated or spoken to, and yet he's pivotal," said Ms Wesson. "If he'd actually acted as a fail-safe, if he had had the knowledge [about our case] that he should have, and then national guidelines were followed, he would have said 'this termination should not be offered' and I'd still have my daughter."Mr Everson added: "The second signature, critically, is on there but he did not date it." Nottinghamshire Police is examining the case as part of Operation Perth, an investigation into maternity failures at the force announced a criminal investigation in September 2023 following discussions with senior midwife Donna Ockenden, who is leading the independent inquiry into maternity services. In November, the force said it had recently started to receive information from the Ockenden review investigation in 2012 by the healthcare watchdog - the Care Quality Commission (CQC) - found evidence that 14 NHS trusts were pre-signing abortion forms - whereby one doctor would sign the forms in anticipation of patients seeking a termination. This breach of the Abortion Act allowed a second doctor to take an individual decision to allow a Department of Health and Social Care subsequently published guidance saying it considered the pre-signing of forms, without subsequent consideration of any information relating to the woman, "to be incompatible with the requirements of the Abortion Act".NUH was not one of the organisations identified by the CQC investigation. A spokesperson for the trust said "from the records, we can confirm that the second signature on the form was undertaken by an appropriate registered medical practitioner". "There is nothing to indicate that the second practitioner did not have access to all relevant information with which to provide their signature within the grounds of the Abortion Act," they to the couple's case, Anthony May, NUH chief executive, said: "I know that we failed Carly, Carl and their baby, Ladybird, in 2019, and for that I am truly sorry. "While words will never change the outcome, I can assure them and other families that we have investigated and learnt from this tragic case."He added: "Our foetal medicine teams provide a specialist regional service to hundreds of women and families a year from across the East Midlands."For women and families using this service, there will be times when they are faced with making very difficult and long-lasting decisions. "We strive to support them to do that in the most compassionate and professional manner and we always want to hear from families who don't feel their experience matches that ambition."
