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Researchers develop new method for prenatal genetic testing

The test could offer the capacity to discover and interpret variants across the foetal exome from DNA circulating in the mother’s blood

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A team of researchers have developed a non-invasive genetic test that can screen the blood of pregnant women to survey all genes for foetal DNA sequence variants.

The team of investigators from Massachusetts General Hospital (MGH), Brigham and Women’s Hospital (BWH) and the Broad Institute of MIT and Harvard evaluated the test by examining blood samples from 51 pregnant women and found the test was able to capture variants that were inherited from the mother as well as new variants that were not present in the mother and associated with prenatal diagnoses.

Results from their proof-of-principle analysis are published in the New England Journal of Medicine.

“Our study suggests that it is feasible to screen most genes across the foetal genome using a blood test rather than requiring an invasive procedure such as amniocentesis,” senior author Michael E. Talkowski, director of MGH’s Center for Genomic Medicine, an associate professor of neurology at Harvard Medical School (HMS) and Institute Member of the Broad Institute explained.

Non-invasive prenatal testing (NIPT), also known as prenatal-cell-free DNA-screening, allows pregnant women to receive a blood test that screens for very large changes in foetal chromosomes such as an extra copy of chromosome 21, known as Down syndrome (trisomy 21); the gain or loss of entire copies of other chromosomes; the presence and number of X and Y sex chromosomes (indicating the sex of the foetus), and, more recently, for a small number of variants that are relevant for some foetal conditions.

However, for many prenatal genetic diagnoses, it is necessary to determine individual nucleotide changes across the protein coding sequence of the genome, known as the ‘exome.’

Exome screening currently requires genetic testing with an invasive medical procedure such as amniocentesis that involves significant cost and carries some inherent risks to the mother and foetus.

The newly developed test could offer the capacity to discover and interpret variants across the foetal exome from DNA circulating in the mother’s blood. The method is referred to by the team as non-invasive foetal sequencing (NIFS).

This NIFS approach enabled the research team to survey the exome, discover sequence changes and distinguish potentially pathogenic variants from likely benign variants inherited from the mother.

Researchers tested their NIFS approach on 51 pregnancies that spanned all three trimesters and were representative of the pregnant population receiving care at Massachusetts General Hospital and Brigham and Women’s Hospital.

According to the study, the NIFS screening method used a maternal blood draw without the need for a separate genetic test on the mother or father. The research team found that the method was highly sensitive for discovering single-base DNA changes and small insertions and deletions that were present in the foetal genome but not in the maternal genome, irrespective of the amount of foetal DNA detected.

Harrison Brand, co-lead author and an investigator in the department of neurology at MGH and an assistant professor at HMS, said: “In our retrospective analysis, we were able to accurately discover and predict foetal sequence variants from the NIFS approach with >99 per cent sensitivity from the raw data and >90 per cent sensitivity after filtering using our analysis methods.”

In 14 pregnancies referred for the current standard-of-care genetic testing that were also evaluated with the NIFS approach, NIFS detected all of the clinically relevant variants that were reported from invasive testing in the same individuals.

The authors conducted this initial test on 51 pregnancies, but the findings, they say, suggest the test could potentially be done on many samples.

“The clinical implications of this research are potentially profound, particularly for pregnancies in which a foetal anomaly is suspected from ultrasound and an invasive test is indicated,” said co-senior author Kathryn Gray, an obstetrician and clinical geneticist at Brigham and Women’s Hospital and assistant professor of obstetrics and gynaecology at HMS at the time of the study.

Talkowski, the director of MGH’s Center for Genomic Medicine, added: “It has long been known that foetal sequence variants can be obtained from cell-free foetal DNA, and exome sequencing is already part of the standard-of-care, but it currently requires an invasive procedure.

“These results suggest that non-invasive sequencing can likely capture the same genetic information from the foetal exome that is already being obtained in the standard-of-care, but from a blood test alone without the invasive procedure.”

The team is currently working with other researchers to expand and validate these findings and to further develop the methods.

Co-lead author Christopher Whelan, a computational scientist at the Broad Institute, said: “Our benchmarking suggests there is more room for optimisation and that most variants currently captured in a standard exome test may be accessible to NIFS with further methods development.”

The team emphasised that this is not currently a clinical test and that these early studies will need to be replicated in much larger samples.

Insight

WUKA and Royal Yachting Association partner to support women and girls in sailing

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WUKA has announced a groundbreaking partnership with the Royal Yachting Association (RYA), including RYA Scotland and RYA Northern Ireland, supporting women and girls in sailing.

Building on WUKA’s growing #TackleAnything campaign – which has already reached thousands of girls across sports in the UK – this collaboration brings practical period solutions into sailing.

Together, WUKA and the RYA are committed to breaking down barriers so periods never limit confidence, participation, or performance on the water.

Ruby Raut, WUKA founder & CEO, said: “Partnering with the RYA has been incredibly important for us at WUKA.

“Sailing is an amazing way for women and girls to build confidence, and periods shouldn’t hold anyone back from enjoying the water or reaching their full potential.

“Through this partnership and our #TackleAnything campaign, we’re proud to provide practical solutions and innovative products that help female sailors feel comfortable, confident, and free to focus on learning, performing, and having fun.

“Breaking down barriers and supporting women to tackle anything — on land, at sea, and everywhere in between – has never felt more meaningful.”

WUKA, which stands for Wake-Up Kick Ass, shares the RYA’s commitment to inclusivity and empowerment.

In 2023, WUKA launched #TackleAnything, a campaign supporting women, girls and sportspeople with periods. Since its launch, the initiative has reached 3,576 girls across 46 clubs and partnered with a range of sports across the UK – from Scottish Gymnastics to Titans wheelchair basketball – helping young athletes play without limits and stay confident, comfortable, and in the game.

The brand offers period-friendly aquatic apparel and practical solutions that help women train and compete with freedom of movement and total assurance.

Through this partnership, WUKA will provide innovative period swimwear for young sailors across key RYA programmes, including the NI Sailing Team, the RYA Scotland Performance Pathway Programme, and the British Sailing Pathways Talent Academies.

By combining WUKA’s mission to challenge stigma with the RYA’s commitment to inclusion, the partnership ensures young sailors can focus on what matters most – learning, performing, and enjoying their time on the water – with confidence and comfort. RYA members will also receive a 10 per cent discount on WUKA products.

Sailing offers incredible benefits for women and girls, but time on the water can present unique challenges -particularly during menstruation.

Together, WUKA and the RYA are providing practical solutions that remove these barriers, helping young sailors participate fully and confidently in the sport.

Sara Sutcliffe, RYA CEO, said: “At the RYA, we have been making strides to break down barriers for women of all ages to help ensure they can experience the water in a supportive and positive environment.

“From education workshops and practical sessions, we want to make sure our female sailors are empowered and this partnership is another great example of how we can demonstrate possible tools to equip them to succeed”.

This partnership is part of the RYA’s wider commitment to making sailing a sport where women and girls can thrive. Alongside initiatives such as the Female Futures Group, the Women’s Race Officials Programme and all new Talent Academy Female Future’s Camps; it demonstrates a continued focus on removing barriers and creating meaningful opportunities across every stage of the sailing.

WUKA’s involvement ensures that practical solutions are available on the water, from innovative period swimwear to support resources, helping young sailors feel fully equipped and confident during training and competition.

By integrating these tools into RYA programmes, WUKA brings a new level of comfort and assurance to female athletes, allowing them to focus entirely on performance, enjoyment, and growth in the sport.

For any women and girls looking to learn more about sailing, visit www.rya.org.uk.

For more information on WUKA visit www.wuka.co.uk.

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Wellness

Study links changing population to low London screening rates

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London’s shifting population is holding down breast screening uptake, experts have said, with the capital at 62.8 per cent in 2024, below the NHS’s acceptable 70 per cent threshold.

The London Assembly Health Committee recently heard that the capital faces distinct challenges compared with the rest of the country and that these issues must be addressed.

Josephine Ruwende, a cancer screening lead at NHS England, said frequent moves within the rented sector and the cost-of-living crisis pushing people out of London had made it difficult to reach eligible patients, which she described as “population churn”.

She said: “This is people changing addresses and then not updating their GP, this then affects the invitation process because GP details are used to identify individuals who are eligible.

“In boroughs where we have the highest population churn, we see it strongly associated with lower uptake.”

She noted that even in the wealthiest boroughs there can be high levels of movement, with around 40 per cent of residents changing address within a year.

Such areas also tend to have more people who own second homes or spend long periods abroad, making it harder for the NHS to keep contact details up to date.

As a result, screening invitations may be sent to out-of-date addresses or to people who are overseas.

Leeane Graham, advocacy lead at Black Women Rising, which supports women of colour with a cancer diagnosis, said there were cultural barriers, fear and a mistrust of the health service due to previous experience within communities.

She said: “If you’ve never been for a breast screening before, the thought of having a mammogram can be really, really terrifying.”

Helen Dickens, from Breast Cancer Now, said other reasons included a lack of understanding of breast screening, along with concerns about discomfort, trust and practical issues such as travel.

She said: “We have amazing public transport and we feel that we’ve got great accessibility, but we also know that we don’t have screening centres in every borough.

“We know that for some women that barrier of transport and access will still be a really big reason why they’re not attending screenings.”

NHS London launched its first screening campaign last year in response to the figures, aiming to increase detection at an earlier stage.

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Features

The hidden cost of “business as usual” in gynecologic surgery

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A Common Surgery with Outsized Consequences

Hysterectomy and myomectomy are among the most frequently performed surgeries worldwide.

Minimally invasive and robotic approaches have delivered clear benefits at the point of care, including shorter hospital stays, faster recovery, and fewer complications.

To remove the uterus or fibroids through small incisions, surgeons use a technique known as morcellation, in which tissue is cut into smaller pieces for extraction during surgery.

However, when tissue is cut without containment, those short-term gains can be offset by downstream harm.

The risks fall into three interconnected categories:

  • dissemination of undiagnosed malignancy
  • spread of benign tissue, including endometriosis and parasitic fibroids
  • legal and financial exposure linked to off-label device use

Crucially, these costs often surface years after the original procedure and rarely where the original cost savings were realized.

Cancer Dissemination: A Known and Preventable Risk

The risk of occult uterine malignancy in women undergoing surgery for presumed benign fibroids is well documented.

The U.S. Food and Drug Administration has estimated this risk at approximately 1 in 350 women, prompting repeated safety communications recommending tissue containment during morcellation.

When morcellation is performed without containment, undiagnosed cancer will be dispersed throughout the abdominal cavity, effectively upstaging disease from localised to disseminated.

The clinical implications are profound, and so are the economic consequences.

Treatment costs for early-stage uterine cancer typically range from $40,000 to $60,000. Once disease becomes disseminated, costs can exceed $150,000 to $300,000, excluding indirect costs such as lost productivity, long-term disability, and caregiver burden.

Beyond treatment expenses, litigation related to morcellation-associated cancer spread has resulted in multi-million-dollar settlements, particularly during the power morcellation litigation wave of the mid-2010s. Several cases explicitly tied disease progression to tissue dissemination during surgery.

From a system perspective, a single preventable dissemination event can negate the cost savings of hundreds of minimally invasive procedures.

Benign Tissue Seeding: The Long Tail of Surgical Cost

Cancer is not the only concern.

Uncontained morcellation has also been associated with the spread of benign tissue, including parasitic fibroids and iatrogenic endometriosis, conditions that may present years after the index surgery.

Endometriosis alone represents one of the most expensive chronic gynecologic conditions. Multiple health economic studies estimate annual per-patient costs of $12,000 to $16,000, with lifetime costs exceeding $100,000, driven by repeat surgeries, chronic pain management, hormonal therapy, and fertility interventions.

While the financial impact may surface years later, downstream harm is increasingly traced back to the index procedure, including the choice between FDA-cleared containment and off-label alternatives used during tissue extraction.

Off-Label Use and the Quiet Accumulation of Liability

One of the least visible, but most consequential, dimensions of morcellation risk lies in off-label device use.

Many tissue bags currently used during morcellation are not FDA-cleared for prevention of tissue spillage during organ cutting and removal. While off-label use is common in medicine, it carries distinct legal and financial implications when complications occur.

Risk management guidance from MedPro Group, one of the largest medical malpractice insurers in the United States, has repeatedly warned that off-label use increases professional liability exposure in three key ways:

1. Burden of justification

When an FDA-cleared alternative exists, the legal burden shifts to the surgeon to prove that off-label use met the standard of care.

2. Informed consent vulnerability

Standard consent language may be insufficient for off-label device use, increasing exposure to failure-to-warn claims if complications arise.

3. Changed liability dynamics

Off-label use alters traditional liability dynamics, increasing scrutiny on clinical decision-making at the hospital and surgeon level.

Legal scholarship published in Clinical Orthopaedics and Related Research has echoed these concerns, noting that courts increasingly allow off-label status to be considered in malpractice cases, particularly when patient harm occurs and safer alternatives were available.

Recent U.S. court decisions have further reinforced that while off-label use is generally permitted, it is not immune from civil liability and, in rare but serious circumstances, criminal consequences when tied to demonstrable patient harm.

FDA Guidance Exists, Adoption Lags Behind

Regulatory expectations around morcellation are no longer ambiguous. The FDA has consistently called for tissue containment during tissue cutting to mitigate the risks of cancer and tissue dissemination.

Yet real-world adoption remains inconsistent.

A 2025 survey reported by News-Medical found widespread gaps in safe tissue containment during laparoscopic gynecologic surgery.

Respondents cited variability in training, institutional protocols, and access to FDA-cleared containment systems. Many surgeons reported reliance on improvised or non-cleared solutions despite growing awareness of regulatory and legal risk.

The result is a widening gap between guidance and practice, one that is increasingly visible to regulators, insurers, and hospital leadership.

Who Ultimately Pays?

The economic impact of uncontained morcellation does not fall on a single stakeholder.

  • Hospitals face litigation exposure, rising malpractice premiums, re-operations, and reputational risk.
  • Surgeons shoulder personal liability, heightened scrutiny around informed consent, and evolving standards of care.
  • Payers absorb downstream oncology costs, chronic disease management, and repeat interventions.
  • Patients bear the heaviest burden, including preventable morbidity, fertility loss, financial toxicity, and erosion of trust.

Taken together, these costs far exceed the price of prevention.

From Clinical Risk to Market Response

This growing recognition of risk has begun to reshape the market.

Before regulatory scrutiny intensified, power morcellation was widely adopted because it saved time, reduced operating room burden, and supported high procedural throughput.

It represented a multi-billion-dollar global market, supported by major surgical device manufacturers and deeply embedded in minimally invasive gynecologic practice.

The withdrawal of power morcellation from many hospitals did not eliminate the clinical need for efficient tissue extraction. Instead, it created a prolonged gap between surgical efficiency and acceptable risk.

That gap is now beginning to close.

With the emergence of FDA-cleared tissue containment systems designed specifically for morcellation, hospitals are reassessing whether power morcellation can be responsibly reintroduced in a manner aligned with regulatory guidance, patient safety, and liability mitigation.

This has significant implications for operating room efficiency, surgeon ergonomics, and system-wide cost management.

One example is Ark Surgical, a U.S.-focused surgical technology company advancing safety-first approaches to tissue extraction.

Its double-wall, airbag-like LapBox containment chamber was developed to support FDA-aligned morcellation while integrating into existing laparoscopic workflows, an increasingly important consideration as hospitals evaluate not just procedural efficiency, but long-term risk exposure.

Ark Surgical is currently in an active investment round, reflecting broader investor interest in technologies that address regulatory-driven risk while unlocking previously constrained markets.

More broadly, capital is flowing toward solutions that make it possible to restore clinical efficiency without reintroducing legacy risk.

The Cost Question Is No Longer “If,” but “When”

Healthcare systems already absorb the cost of uncontained morcellation through litigation, chronic disease management, repeat interventions, and loss of trust.

What has changed is visibility.

As clinical data, regulatory expectations, and market solutions converge, the question is no longer whether containment matters, but whether healthcare systems can afford to continue treating it as optional.

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