A study by the Millennium Institute for Care Research (MICARE) shows low levels of empathy and knowledge about the genetic condition among health professionals, leading to negative experiences for families.
Receiving the news that a child has Down syndrome is a pivotal moment that can profoundly influence how parents process the diagnosis and envision their child’s future. In Chile, this moment is often marred by dehumanizing treatment, a lack of clear protocols, and misinformation, factors that have a deep emotional impact, particularly on mothers.
A recent study by the Millennium Institute MICARE, published in the journal BMC Pregnancy and Childbirth examined the experiences of mothers of children with Down syndrome, focusing on how health professionals communicated the diagnosis and the emotional impact for families.
“The news of the birth of a baby with Down syndrome is treated like ‘bad news’, which already has a negative connotation”, said Marcela Tenorio, academic at Universidad del Desarrollo and researcher at the Millennium Institute MICARE, director of the study where also participated Johanna Sagner from Universidad de la Frontera, Renata Garibaldi, and Vaso Totsika from University College London.
“The birth of a baby with Down syndrome is treated as ‘bad news’, which already carries a negative connotation,” said Marcela Tenorio, a lecturer at Universidad del Desarrollo and MICARE researcher. Tenorio led the study alongside Johanna Sagner from Universidad de La Frontera, Renata Garibaldi, and Vaso Totsika from University College London.
Tenorio explains that “the developmental trajectories of children with Down syndrome are closely linked to the quality and timeliness of the support they received, being much more positive the outcomes when adults hold optimistic expectations about their potential and achievements”.
Communication failures
This qualitative study was based on interviews with 40 mothers in Chile who had children with Down syndrome aged between 12 and 44 months. These mothers had received care from both public hospitals and private clinics.
Down syndrome can be diagnosed during the first trimester of pregnancy through indicators such as increased nuchal translucency (extra fluid at the back of the baby’s neck), the presence or absence of the nasal bone, and maternal blood tests. After birth, diagnosis is made through observation of physical characteristics and confirmed with a genetic test called karyotyping, which analyzes the baby’s chromosomes.
Among the participants, 42.5% received the diagnosis before birth, while 57.5% were informed at or shortly after birth.
Many mothers described receiving the news under inappropriate conditions and with little to no emotional support. Researchers found it especially worrying that in several cases, the diagnosis was given first to the fathers.
One mother recalled that while still in the delivery room, the father was called to be told that their daughter had ‘traits of Down syndrome’ “They informed me …, saying that the girl ‘seemed to have traits,’ still in the operating room, while they were closing my abdomen. I would have liked them to wait a bit to tell me, a little more empathy from the doctors”
The study’s authors emphasized that “this is an important finding of our study that should prompt discussions about new guidelines and public policies aimed at humanizing care in these situations”.
Another worrying issue raised by the mothers was that in some cases, the news was delivered in inappropriate settings, such as hospital hallways and by unqualified personnel.
“When they took the baby after birth to clean her, and while I was waiting in the hospital corridor, a doctor approached and asked if I had been informed about Down syndrome. They then explained the suspicion and said they would conduct all tests. The baby was
hospitalized in neonatology, so I was going in to give her milk. But they did not offer any further information.
I remember a staff member, outside the hospital protocol, who was a mother of a person with Down syndrome, explained what was happening (…) it was difficult, I was very sad for over a year”, one mother recounted.
The study also found that while doctors usually deliver the news, in some cases it is communicated by other health workers, such as ultrasound technicians, nurses, or even people outside the medical team. This, according to the experts, points to a lack of regulation and a failure to establish a minimum standard of care. In all cases, the study reported low levels of empathy and limited knowledge about Down syndrome, resulting in negative experiences for the mothers.
Additionally, the study revealed frequent cases of misleading or incorrect communication, including overly pessimistic predictions about the child’s future.
“[H]e told me the baby was going to die”, said one of the mothers. In several cases, the mothers said that during the ultrasound they were warned about some characteristics like “he will be small” or “he will be short-legged”,but no further information was provided.
“We know that health professionals receive limited training in neurodevelopmental conditions, particularly intellectual disabilities. Unlike countries like the UK, where professionals are specifically trained to support these populations, this good practice is still lacking in Latin America,” said Tenorio.
She added: “The fact that the birth of a baby with Down syndrome is treated as ‘bad news’, same as a terminal cancer diagnosis or a transition to end-of-life care, reflects an approach that carries negative connotations about disability that results in expressions or ideas that families perceive as lacking empathy.”
More humanizing healthcare
The analysis calls for urgent steps toward a more humanizing and empathetic healthcare system, one that not only provides accurate information but also emotional support.
The authors recommend that the diagnosis of Down syndrome should be delivered “in a private, calm, and controlled environment where parents can process the information without additional stressors”.
“It is urgent to advance the training of health professionals in human rights. The system must recognize that people with disabilities are segregated and marginalized, even from birth. This requires better understanding of the attitudes among healthcare staff toward people with disabilities and the design of strategies to dismantle negative stereotypes, micro- and macro-aggressions, and discrimination,” said Tenorio.
The study also recommends the implementation of healthcare protocols to ensure the humane and consistent delivery of information, defining clearly who should deliver the diagnosis, when, and how.
“It is crucial to distinguish between unexpected news, which can certainly be challenging, and bad news. A diagnosis should come with hope. Life should always be approached with hope,” Tenorio concluded.
