Trisomy 18 Care: A Paradigm Shift | Talking Trisomy

The First International Episode of Talking Trisomy

This episode of Talking Trisomy crossed more than an ocean. Nick Holladay and Dr. John Carey were joined by two Japanese researchers who have spent decades building the clinical evidence base that is changing how physicians everywhere approach Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). It was the first time Talking Trisomy has connected live with guests in Japan, and it will not be the last.

Dr. Tomoki Kosho is a professor and clinical geneticist at Shinshi University School of Medicine in Japan, and one of Dr. Carey's closest international colleagues of the past 25 years. Dr. Shoko Tamaki is a neonatologist now working at Saitama Children's Medical Center in Japan, where she has cared for many infants with Trisomy 18 and Trisomy 13 across some of Japan's leading tertiary care centers.

Together with Dr. Carey, they authored a paper published in 2026 that does something no single paper had done before: pull together the current evidence on survival, cardiac surgery, management, development, and shared decision making into one comprehensive review, with a practical checklist for clinicians, and make it freely available to anyone in the world.

The Baby Who Was Not Supposed to Live a Year

Dr. Kosho's first encounter with Trisomy 18 happened about three years after he finished medical school. He was a resident. A baby came in and he cared for her. He was happy with how it was going. His supervisor pulled him aside and told him something that stopped him cold: what he was doing was probably not good for this child.

That baby changed the direction of his career. He kept going back to those families. He kept asking what was actually happening to these children when someone decided to try. And in 2006, he published a paper that Dr. Carey describes as a landmark — one that he featured in an editorial in the American Journal of Medical Genetics and has shown in nearly every talk he has given since.

The 2006 Paper That Shifted Everything

What Dr. Kosho and his team did was simple and radical at the same time. They offered 24 families at Nagano Children's Hospital the opportunity for full intensive intervention — not cardiac surgery, but full respiratory support and up-to-date feeding therapies. All 24 families agreed. And then they watched what happened.

Twenty-two of the 24 children survived their first week of life. At the time, less than half would have been expected to. The median age of survival was around five months, compared to about 10 days at that time in the broader literature. And six of the 24 — 25% — survived to one year. At a time when physicians were expecting one or two at most.

Dr. Carey called it a landmark then and calls it a landmark now. Papers from Japan on cardiac surgery followed over the next five years. And the field has not been the same since.

Dr. Tamaki's Contribution: What Happens When You Change Your Approach

Dr. Shoko Tamaki has cared for infants with Trisomy 18 and Trisomy 13 across multiple tertiary care hospitals in Japan. In 2022 she published a paper in the American Journal of Medical Genetics examining what happened at her hospital when the approach to care changed over time. She compared two groups of about 30 children each — one group from an earlier period, one from a later period when more cardiac surgery and intervention were offered.

The later group had a one-year survival rate above 50%. The earlier group had 35%, which was itself better than what most of the literature was showing at the time. The message was direct: more intervention, done thoughtfully, produced better outcomes. Not perfect outcomes. But markedly better ones.

The 2026 Paper: A Practical Resource for the World

About a year and a half ago, a colleague at Boston Children's invited Dr. Carey to contribute to an open-access journal series on rare diseases. He had an idea. He wrote to Dr. Kosho. Dr. Kosho brought in Dr. Tamaki. And the three of them built something new.

The paper, published in March 2026, is called Advances in Care and Management of Infants and Children with Trisomy 13 and Trisomy 18: A Paradigm Shift. It covers epidemiology, genetics, diagnosis, cardiovascular care, respiratory care, neurology, feeding, development, hearing, and shared decision making. It includes a comprehensive management checklist organized by age — from prenatal through adolescence — that any pediatrician picking up a Trisomy 18 or Trisomy 13 patient for the first time can actually use.

The checklist was built specifically for general pediatricians in the community who may have far less experience with these conditions than the neonatologists who cared for the child in the NICU. When a child is discharged at five or six months, that community pediatrician needs to know what to look for, what to check, and when to refer. The checklist tells them.

The full paper is freely available — no subscription, no paywall. It is linked from the Medical Professionals section of trisomy.org and in the description of this episode.

Cardiac Surgery: What the Evidence Now Shows

One of the most significant sections of the paper is the summary of cardiac surgery outcomes. Dr. Tamaki walked through what the data shows: for selected children with Trisomy 18 and Trisomy 13, cardiac surgery is associated with markedly improved survival. In-hospital mortality after cardiac surgery in large recent studies is below 15%. For children with mild to moderate heart disease, the outcomes in carefully selected patients are real and meaningful.

There are still unanswered questions. The optimal timing for complete repair is not established. Which children benefit most from palliative surgery versus definitive repair is still being studied. And the evidence base for Trisomy 13 remains thinner than for Trisomy 18. But the old blanket assumption — that cardiac surgery is never appropriate for these children — is no longer supported by the evidence.

In Japan, as in America, some hospitals still do not present cardiac surgery as an option at all. Families in both countries sometimes have to search for a hospital willing to perform it and pursue a transfer. Dr. Kosho described a patient in Nagano Prefecture whose family wanted cardiac surgery, was referred to a surgeon in Osaka, had the surgery performed, and came back. That experience helped persuade the surgeons and neonatologists at Nagano Children's to begin offering cardiac surgery themselves in 2024.

In Japan, the national health insurance system covers all treatment for any child. There is no coverage fight, no insurance company making the decision. In America, the insurance question is real and adds a layer of complication that Japanese families do not face. It is worth knowing as a family that transfer to a hospital willing to perform cardiac surgery is an option in both countries — but that the path to get there looks different.

The Japanese Trisomy 18 Family Support Group

Nick asked Dr. Kosho about the family support network in Japan. The Trisomy 18 Support Group in Japan was established in 2001 by Professor Hiroko Sakurai, who still serves as its president. Dr. Kosho has been involved since its founding. In 2013 the group published a comprehensive survey of its members on the natural history of Trisomy 18 and parental experiences — also in the American Journal of Medical Genetics.

The conclusion of that paper: parents appeared to be positive about caring for their children. The children interacted with parents and siblings as long as they lived. And what the Japanese families reported was essentially identical to what SOFT families in North America report.

The Japanese group connects primarily through digital channels — mailing lists, social networks — and has increasingly been reaching families who receive prenatal diagnoses. Dr. Kosho noted that families are connecting earlier now, in part because prenatal diagnosis through NIPS is more common. The parallel to what SOFT is seeing with its new and expectant parent books is exact.

What This Means for Families Right Now

Every family who receives a Trisomy 18 or Trisomy 13 diagnosis deserves to know what the evidence now shows. Not the statistics from the 1970s. Not the assumptions that were built on a time when intervention was never offered. The current evidence.

Some children will benefit from cardiac surgery. Some will not. Some families will choose intensive care. Some will choose comfort care. Those are decisions that belong to families, made with accurate and complete information, in partnership with a clinical team that treats each child as an individual. That is what shared decision making means, and it is what this paper advocates for, clearly and directly.

Nick put it simply at the end of the episode: what families want is to have their child honored and respected, not as a diagnosis, but as a person. What these three physicians have spent their careers building is the evidence base that makes that possible.