Most women feel underinformed following prenatal screening for Down syndrome

Prenatal screening for Down syndrome (DS) is offered to all pregnant people receiving antenatal care in Great Britain, with the goal of providing relevant impartial information to support their reproductive decisions, but the experiences of parents of children with Down syndrome of undergoing screening are rarely captured in detail.

Published in the American Journal of Medical Genetics Part A, this largest-of-its-kind study from the UK has revealed serious gaps in the way expectant mothers are supported through prenatal screening for Down syndrome. Showing that many have been left to navigate overwhelming decisions without sufficient information, discussion or emotional support.

Tamar Rutter, PhD Candidate, University of Warwick and lead author of this study, commented: “Prenatal screening is often how parents first learn about the possibility of their child having Down syndrome, and our research shows the lasting personal impact of the way screening results are communicated to them. At the same time, we found that many expectant parents received limited support to meaningfully consider whether or not to have screening, highlighting the need for care which truly promotes informed choice.”

The study surveyed over 300 mothers of children with Down syndrome to review the information they received about screening, their experiences of being offered screenings and receiving screening results or of declining screenings.

One mother, Natalie, whose son Henley was born in 2021, described the pregnancy as “so stressful, with so much negativity, doom and gloom.” She received a high chance result for Down syndrome at 13 weeks. Over the course of her pregnancy, Natalie was offered termination on four separate occasions - often in the absence of balanced information or compassion.

“The foetal medicine doctor told us our baby would have a poor quality of life and that we should consider the impact on our family. They told us he would be a burden. Henley is now 14 months old. He’s already defied so many of the predictions. He didn’t need any ventilation, and we went home five days after birth” (see Natalie’s full story in notes to editors).

For mothers of a baby with Down syndrome in this study, 44% reported receiving neither written nor online information about DS screenings, with 37% reporting insufficient opportunity to discuss screening with healthcare professionals before making their decision. Results given by phone left one mother feeling ‘abandoned with the news’ with ‘no idea where to go next’ and 62% of mothers left the process feeling that they had not received enough information about DS.

Screening was seen as a routine part of antenatal care despite being optional, with 83% of mothers having this impression and 54% of mothers reporting that they ‘went along with’ initial screening without giving it much thought. 73% reported not feeling pressured despite the routinisation, but a minority still felt pressurised to have screening.

An anonymous mother reported that: “The possibility of being pregnant with a child with Down syndrome was always framed negatively by professionals; for example, the loaded word ‘risk’ was always used rather than the neutral terms of ‘chance’ or ‘probability.”

Another anonymous mother said: “I felt pushed into the screening by midwives who kept commenting on me being older and higher risk”.

Experiences were far from all negative, as the majority (85%) understood the screening was optional, 79% understood that the non-invasive prenatal screening test (NIPT) could not definitely confirm that their baby had DS, and 72% reported having enough time to decide whether to have a screening test. Several mothers highlighted the excellent conversations they had had with healthcare professionals.

Natalie and Henley’s story echoes the wider findings of the study as not all their experiences were negative: a neurosurgeon at Birmingham Children’s Hospital reassured the couple that many of the earlier predictions could not be known until after birth, and perhaps not for years.

This research was supported by Down Syndrome UK and Nicola Enoch, Founder and CEO of Down Syndrome UK, said: “I started this charity after my own poor maternity care experience. Sadly, 21 years later, discrimination and ignorance prevail in maternity care. This research is a wake-up call. Expectant parents deserve clear information, time to reflect, and the reassurance that all outcomes are valued. The current system is failing too many families.”

“We’re calling on the NHS and training bodies to introduce a national pathway to support our expectant parents and compulsory education around supporting them. We have to challenge and change the outdated attitudes and assumptions towards Down syndrome, and to listen and learn from the experiences of our families.”

ENDS

Notes to Editors

For more information please contact:

Matt Higgs, PhD | Media & Communications Officer (Press Office)

Email: Matt.Higgs@warwick.ac.uk | Phone: +44(0)7880 175403

Extra Information:

The full study with quotes from survey participants has been published in the American Journal of Medical Genetics Part A: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64206

Full Case Study:

One mother, Natalie, whose son Henley was born in 2021, described the pregnancy as “so stressful, with so much negativity, doom and gloom.” She received a high chance result for Down syndrome at 13 weeks. Over the course of her pregnancy, she was offered termination on four separate occasions - often in the absence of balanced information or compassion.

“The foetal medicine doctor told us our baby would have a poor quality of life and that we should consider the impact on our family. They told us he would be a burden. Henley is now 14 months old. He’s already defied so many of the predictions. He didn’t need any ventilation, and we went home five days after birth.”

“The foetal medicine doctor kept telling us that because of having Down syndrome and severe fluid on the brain our son would be severely disabled, that he would be wheelchair bound and have very low mobility. He also advised Henley would have cerebral palsy. We were told to expect him to come out and need ventilation and to prepare ourselves for making the decision about turning it off. The foetal medicine doctor told us our baby would have a poor quality of life and that we should consider the impact on our family, telling us that our baby would be a burden to our other children.

At 23 weeks Natalie was told about late-term abortion procedures “in detail” and that it would be “better to do it sooner rather than later.” When Henley was born, he did not need special care, he did not require ventilation or any surgery and had no signs of cerebral palsy. “Hearing his first cry, the relief just washed over me — it was already more positive and brighter than we’d been told.” Henley is celebrating his 4th birthday this week, he is mobile, loves playing with his two brothers and mum Natalie says she can’t imagine life without him.

“We are prepping to take him to the Paddington experience in London as a surprise. His birthdays are so special to us as we celebrate the fact he is here proving medical professionals wrong in every sense possible. It's always a celebration of how our family has come so far from such a negative experience, and it is just pure joy, happiness, and love to celebrate together.”

Sadly, Natalie’s story echoes the wider findings of the study, which highlight how screening results are often framed negatively, and how little support many women receive. Less than half were given written or online information about screening before it was offered, and some said the possibility of continuing the pregnancy was not meaningfully discussed.

Not all experiences were negative: a neurosurgeon at Birmingham Children’s Hospital reassured the couple that many of the earlier predictions could not be known until after birth, and perhaps not for years. And at Birmingham Women’s Hospital, women repeatedly advise how supportive the screening midwife is.

For more information on Down Syndrome UK’s work in maternity care, visit: https://downsyndromeuk.co.uk/health/maternity-care/

St George’s antenatal care pathway can be found at: https://www.stgeorges.nhs.uk/wp-content/uploads/2021/01/Personalised-antenatal-care-of-pregnancies-suspected-or-diagnosed-with-Down-syndrome.pdf

Related research: Mental Health Support in Maternity Care – Warwick University: https://warwick.ac.uk/fac/soc/cidd/research/downsyndromeexperiences/ds_maternity_mh_support_-_warwick_-_final_003.pdf

About the University of Warwick

Founded in 1965, the University of Warwick is a world-leading institution known for its commitment to era-defining innovation across research and education. A connected ecosystem of staff, students and alumni, the University fosters transformative learning, interdisciplinary collaboration and bold industry partnerships across state-of-the-art facilities in the UK and global satellite hubs. Here, spirited thinkers push boundaries, experiment and challenge conventions to create a better world.

About Down Syndrome UK

Down Syndrome UK, known in maternity care as its initiative “Positive About Down Syndrome” is actively working to improve maternity care by providing printed resources to maternity units as well as training to health care professionals. The charity has co-developed a personalised antenatal care pathway with St George’s Hospital, offering a compassionate model of support for pregnancies suspected or diagnosed with Down syndrome.