08/04/2026
The BBC News had reached out to asks for our thoughts regarding the news article that was recently published. I responded but was told "We have a lot of breaking news here in the UK so we won't be able to cover this today." So I will share what I sent them back as it does provide some pretty critical information regarding and that is important for patients and families to understand for a full picture. Innovation is important, helping patients and families understand risks and a full picture of this disease (and limitations of surgical innovation) is as well. We stand on "cautiously/informed optimism" and hope this is informative and helpful:
Dear BBC-
Thanks for offering the opportunity. I can provide some feedback in email for you to review at your leisure then:
First concern, which is important for your readers: Surgical Innovation and as "vague research:"
In utero repair for Gastroschisis is not a "new" proposed intervention. In utero surgery as an intervention (not specifically for Gastroschisis) has been around since 1981. First time it is reported in the literature as used in Gastroschisis is actually 2015. However, not unlike Spina Bifida, it is an extremely risky procedure and is not appropriate for all gastroschisis cases—again, much like Spina Bifida. (So folks reading know, most Spina Bifida cases are not treated in utero. The most common type of spina bifida where fetal surgery is considered is myelomeningocele, the most severe form in which the spinal cord and nerves protrude through an opening in the back). Particularly for Gastroschisis, we lack any substantial data demonstrating that it meaningfully improves upon the current standard of care (silo reduction and/or primary closure), which offers approximately a 90% survival rate in developed countries.
Of primary importance for patients and families to know and be aware of is that surgical innovation is an area of medical research that exists under a very different ethical and clinical research framework than pharmaceuticals or new medical technologies. Insofar as a procedure does not involve a new pharmaceutical intervention (a new drug) or a new technology (for example, an implant, mesh, robotic platform, etc.), surgeons have historically had considerably more latitude to innovate. This means that if a surgeon wants to operate on existing anatomy without introducing a new drug or physical device, they may do so on a willing patient, often after demonstrating feasibility in an animal model. They are generally not required to report ongoing positive or negative outcomes, there may not be a formal IRB research process, and there do not have to be Phase I–III (or comparable) studies meeting FDA or other regulatory standards before a technique reaches the medical marketplace.
Some examples of how this unusual area of innovation has proven problematic because techniques were widely adopted before rigorous long-term evaluation include radical mastectomy, internal mammary artery ligation for angina, routine arthroscopic lavage/debridement for knee osteoarthritis, open surgery for most peptic ulcer disease, routine prophylactic episiotomy, and, perhaps most notoriously, the prefrontal lobotomy.
For our population, we have also seen procedures come into favor and later fall out of favor as retrospective outcomes data emerged. Nissen fundoplication, STEP (Serial Transverse Enteroplasty Procedure), and the Bianchi or Longitudinal Intestinal Lengthening and Tailoring (LILT) procedure have all been—or continue to be—offered without the same rigorous preconditions expected of pharmacologic or technological interventions. Over time, outcomes have either caused them to fall out of favor or helped us recognize that certain etiologies are not ideal candidates (for example, we now better understand that gastroschisis is generally not an ideal etiology for STEP).
This area of innovation occupies something of a "Wild West" in medicine because every patient has unique physiology, surgeons routinely encounter unexpected anatomy or intraoperative findings, and innovation often occurs in real time. Surgeons have long asked, "When does surgical innovation become research?" and, for decades, have been able to continue innovating without the same evidentiary standards applied to drugs or medical devices.
I think it is particularly important that vulnerable rare disease patients and their families understand that robust outcomes data are often lacking in surgical innovation. That does not mean innovation is inherently bad—many life-saving advances have come from it—but it does mean these procedures are well worth approaching with cautious, informed optimism. In utero treatment of gastroschisis decidedly falls into this category and should be cautiously presented as such. We simply do not have enough data, particularly outcomes data, to show that it is an improvement over existing modalities.
Complications known for Gastroschisis/In Utero closure:
- Most parents and patients who have been affected by gastroschisis know that in utero, the baby forms around what is inside of the body, hence the need for a good size at birth and/or the need for silo at birth to safely replace the intestines. This is also noted on scans by the babies measuring "small" and often labeled as IUGR (inter uterine growth restriction). The risks of placing too much bowel too quickly back into the abdominal cavity, especially for a developing baby, increases risks of compartment syndrome at birth, which would likely be greatly increased for a developing baby as well. This would effectively put critical pressure not only on the vascular system of the bowel but also pressure on the lungs and heart. (Not to mention the increased risk of preterm labor for an organ system that truly needs as much development as possible for both size and added pressures of placing bowel back in).
- This treatment would be futile for 15-20% of Gastroschisis patients who experience "vanishing" or "closing gastroschisis," where the abdominal wall suddenly starts to close down at approximately 22 weeks, cutting off the internal bowel from the external bowel.
- Again, prenatal interventions have been researched over the years—including amnio exchange, amnioinfusion, fetal covering techniques, and experimental fetal repairs—however, they have not become standards of care because studies have not demonstrated consistent improvements in survival or long-term bowel function, and many introduce additional maternal and fetal risks.
- Earlier surgical closure of the abdominal wall will not erase the problematic exposure of the developing cells of the gastrointestinal tract that starts at 5-7 weeks gestation when those organs should be safely enclosed in the abdominal wall. While it will reduce the time, it will not undo that critical exposure (difference of sand in seed versus a sand in soil) that we have been working hard for practitioners to pay more close attention to knowing the long term outcomes of these patients. (Children to adults ages 2-74 report chronic abdominal pain, poor motility, constipation, volvulus, intestinal dysfunction, intussusception, pseudo/full obstruction, avoidant feeding associated with chronic pain, etc).
- Gastroschisis is where the gene sequence that normally fires off during embryonic folding between 5-7 weeks that draws in and flips the intestine into place, while also closing down the abdominal wall around the umbilical cord is stopped for unknown reasons. This means all of our gastroschisis patients are born with what is known as "non-rotated gut" which is also further malrotated when we place the bowels back in- they go in wherever they can be placed. (This again and critically is also not addressed in in utero repair.) This physiology runs the risk of bowel loops falling in the abdominal wall that may run counter to gravity + digestion processes, which we see later in increased abdominal pain and adds to already occurring dysmotility due to cellular compromise in addition to increased risks of volvulus. Additionally we know that this disruption also provides complications to the mesentery system of the gut as well.
While we are absolutely all for improvements in Gastroschisis outcomes and have been working around the clock, especially the past 10 years, to curve research towards the accurate needs of the population, we have great reservations regarding in utero closure for gastroschisis and would caution the world to review it accurately, again granting this unique area of "research," with cautious optimism, and again, granting that the defect is much more than a singular surgical intervention.
Hopefully this science can continue to consider risks, my greatest caution to the gastroschisis and patient world at large is there is never truly a "Gold Standard" of treatment, just what we know to be best granted the knowledge that we have at any given time.
Most importantly, as prior stated, the most critical point we have been urgently calling to clinician and researchers attention is that Gastroschisis is not cured by singular surgical event, and our patients consistently demonstrate this. Because disease identifiers fall off for our "simple Gastroschisis" cases following discharge from the NICU, that data does not exist. We have been demanding that their disease identifier follows them throughout their life so that clinical research, treatments and understanding will follow in kind. The population and a handful of treating clinicians are aware that these issues exist for our population, but because they are not coded as "Gastroschisis" patients after discharge from the NICU, that data "doesn't exist."
The Global Gastroschisis Foundation have been working weekly on developing and promoting research and have identified the following goals:
GGF Priorities and Call to Action
· Reframe Gastroschisis: Treat it as a lifelong, system-wide disorder beginning at the cellular level that is not "fixed" by surgical closure. Additionally, this population is clearly heterogeneous in nature and the groups are not clearly identified at birth (complicated vs uncomplicated) and the long term issues are even more difficult to predict
· Revise Neonatal Protocols: Prioritize sensory-informed, slow feed advancement over volume metrics
· Ensure Long-Term Follow-Up: Keep disease identifiers on records post-discharge for proper tracking and continuity of care
· Build Adult Care Pathways: Recognize anatomical and motility risks that persist into adulthood
· Reject Predictive Models: Focus research on longitudinal outcomes and pathophysiology, not neonatal prediction tools
· Center Survivor Voices: Include lived experience in research design, clinical protocols, and funding priorities
We'd welcome any opportunity to discuss the full needs of the Gastroschisis population as our patient population always can use the needed exposure, as is true for others in this "rare disease" space.
Thanks again for reaching out.
Warmly-
Meg
https://www.bbc.com/news/articles/c86ngegz9qno?fbclid=IwY2xjawTfBsJleHRuA2FlbQIxMQBzcnRjBmFwcF9pZBAyMjIwMzkxNzg4MjAwODkyAAEeMEt4_MttnG24d5_JcG6MNMu6khA8E7L7G7uhUSi4XMPhSdWi5zusETPpPVA_aem_3cuP6_kHPy68a0NA2WOBJg
Theo became the first British baby to be operated on in the womb to correct complex gastroschisis, as part of a pioneering clinical trial.
