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Comment: Should women consider carrier screening before trying to conceive?

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By Amber Kaplun, lead genetic counsellor for IVI RMA North America.

Are you thinking about having a baby? Here’s one thing to consider that may not yet be on your radar: preconception genetic carrier screening. This testing helps evaluate the chances of having a child with a recessive genetic condition and can offer invaluable insights for family planning.

Preconception genetic carrier screening helps evaluate the chances of having a child with a recessive genetic condition. These tests are relevant for heterosexual couples planning a family and LGBTQ+ couples using egg or sperm donors, as results guide the selection of genetically compatible donors.

Carrier screening is critical for evaluating the likelihood of a child inheriting a recessive genetic condition, which occurs when both biological parents carry a mutation in the same gene.

These conditions, such as cystic fibrosis (CF) or sickle cell anemia, can lead to significant lifelong health challenges, requiring specialised care or treatment. Understanding risks in advance allows prospective parents to make considerations for these possibilities during their family planning.

For example, consider a scenario where both partners are carriers of the CF gene. This creates a 25 per cent chance of their child being born with the condition. Armed with this knowledge, couples can explore options such as in-vitro fertilization (IVF) with preimplantation genetic testing (PGT-M) to use embryos without the condition or plan for diagnostic testing during pregnancy to prepare for the needs of a child with CF.

Expanded carrier screens typically test for over 400 conditions, making it common for individuals to be carriers of at least one condition. If one partner tests positive, testing the other partner is recommended to determine the child’s potential risk. For smaller panels of conditions, testing one partner may suffice. Ideally, this screening is completed before pregnancy.

However, carrier screening does not cover all genetic conditions. If there is a family history of genetic disorders, consulting with a physician or genetic counselor is essential to ensure appropriate testing. Additionally, while carrier screening lowers the risk, it cannot eliminate it; every pregnancy has a two to three percent chance of unexpected complications.

Starting the conversation with your provider

Patients are encouraged to work with healthcare providers—OBGYNs, genetic counselors, reproductive endocrinologists, or other professionals—for carrier screening. Direct-to-consumer tests, such as 23andMe, often lack the comprehensive results and reliability of screenings facilitated by certified labs. By working with a reproductive medicine provider, you’ll ensure the highest quality testing and expert guidance through the process.

Preparing your family history

A thorough family history is invaluable when meeting with a genetic counselor. Be ready to discuss any relatives diagnosed with genetic conditions, intellectual disabilities, autism, birth defects, or fertility issues like recurrent miscarriages. This information helps identify additional genetic tests that may be necessary beyond carrier screening.

Pros and cons of genetic carrier screening

Carrier screening offers significant benefits. When done before pregnancy, it allows medical teams to offer tests that minimize risks. Options such as testing embryos during IVF (preimplantation genetic testing) or prenatal tests like CVS (chorionic villus sampling) or amniocentesis that check for genetic abnormalities in a fetus may be available.

However, there are challenges. Insurance coverage isn’t guaranteed, though some labs provide affordable cash-pay options. Occasionally, results may reveal unexpected personal health information or leave uncertainties, such as not knowing the severity of a potential condition. Working with a genetic counselor ensures you receive the most accurate and up-to-date information.

Navigating test results

After receiving carrier screening results, here’s how common scenarios might unfold:

  1. One partner is a carrier, but the other is not: The risk of having an affected child is low. In most cases, no reproductive testing is needed, as the biggest risk is having a child who is also a carrier, which is common and generally harmless.
  2. Both partners are carriers of the same condition: There is a 25 percent chance of having an affected child. Couples are counseled on reproductive options, such as IVF with genetic testing of embryos (PGT-M) to avoid passing on the condition. For pregnancies already underway, diagnostic tests like CVS or amniocentesis can determine if the fetus is affected.
  3. Female carrier of an X-linked condition: Women who carry X-linked conditions, such as hemophilia, have a 25 percent chance of having an affected son. Reproductive testing and counseling options are available to address these risks.
  4. Neither partner is a carrier: While this outcome is rare, it’s reassuring. However, it’s important to remember that rare or mild conditions not included in the screening may still be present.

Words of wisdom for hopeful parents

Parents should expect to be a carrier of at least one condition—some people may carry several. Testing both partners simultaneously can reduce anxiety. If your results indicate high-risk findings, consult a genetic counselor for guidance. Most importantly, remember that for most couples, carrier screening provides reassurance. If challenges arise, they represent a reshaping of your family-building journey, not an end to it. Finding the right fertility care team ensures you’ll have the support you need every step of the way.

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Femtech World Awards 2026: Celebrating initiatives that move women’s health forward

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By Wolfgang Hackl, CEO, OncoGenomX Inc., Allschwil, Switzerland

As the FemTech World Awards 2026 winners are revealed, it is a privilege to reflect on the Research Award 2026 sponsored by OncoGenomX Inc., and on the exceptional standard set by this year’s finalists.

On behalf of OncoGenomX Inc., sincere thanks to every applicant and congratulations go to the nominees whose work continues to push women’s health innovation forward.

Research Awards matter because they do more than recognize excellence in a single moment; they help elevate the science, courage, and systems thinking needed to transform women’s health at scale.

This year’s three finalists represented three different but equally important forms of progress. Natural Cycles brought forward one of the largest studies ever conducted on menstrual and ovulatory patterns in perimenopause, analysing nearly one million cycles from more than 197,000 women across over 140 countries.

That project stood out for both its dataset scale and its ability to translate new evidence into a regulated product designed to support women navigating a historically under-researched life stage.

IVI RMA stood out for scientific rigor and clinical precision. Its multicenter, double-blinded, non-selection study on non-mosaic segmental aneuploid embryos offered high-quality evidence on implantation and live birth outcomes, helping move fertility care away from assumption and toward a more evidence-based approach to embryo management and patient counseling.

UN ESCAP’s ‘Femtech in South-East Asia: Unlocking innovation for women’s health’ stood out for a different reason.

Rather than focusing on one product area or one clinical question, it mapped an entire emerging ecosystem.

The report examined the state of femtech across key South-East Asian markets, documented barriers such as financing gaps, stigma, weak ecosystem support, and data challenges, and then translated that research into practical recommendations for governments, investors, founders, and ecosystem builders.

In many ways, all three finalists are winners.

Each project excelled on core evaluation criteria including originality, relevance, coherence, effectiveness, efficiency, impact, and sustainability.

Each also offered something genuinely valuable to the future of women’s health: stronger evidence, clearer decision-making, more informed product development, and greater visibility for unmet needs that have gone too long without sufficient attention.

The final decision was therefore a genuine head-to-head race.

The jury supported its discussion with a numerical scoring approach, but it also looked carefully at systems impact: the extent to which a project not only advances one intervention, but improves the wider conditions under which innovation can emerge, scale, and endure.

That perspective mattered in this category, because the strongest research is not always only the most technically impressive; sometimes it is the research that opens doors for many future innovations to follow.

On that basis, the OncoGenomX Jury selected UN ESCAP as the winner of the Research Award.

The decisive factor was not simply that the report was comprehensive, though it was.

It was that the project helps change the environment around innovation itself.

It provides a practical roadmap for strengthening research, improving data governance, expanding founder support, addressing gender bias in investment, scaling innovative finance, and integrating women’s health more fully into policy and development agendas.

That broader enabling effect is what distinguished the UN ESCAP project. Natural Cycles demonstrated outstanding research translation, and IVI RMA demonstrated exceptional clinical rigor.

UN ESCAP, however, showed how research can influence the structures that determine whether many other femtech solutions will ever be funded, adopted, trusted, and scaled. In that sense, its impact reaches beyond one company, one product, or one clinical pathway, and toward a healthier innovation landscape overall.

Warm congratulations again to all finalists and nominees.

And special congratulations to UN ESCAP on receiving the OncoGenomX Research Award at the Femtech World Awards 2026.

The jury’s decision reflects deep respect for all three projects and a shared belief that women’s health advances fastest when excellent science is paired with the power to reshape the systems around it.

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WEC Chair calls out Health Minister’s delay on banning BBLs and other harmful cosmetic procedures

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WEC chair Sarah Owen has criticised delays over a ban on high harm cosmetic procedures, including liquid BBLs.

The Women and Equalities Committee has published a letter from health minister Karin Smyth after the government missed the 18 April deadline to respond to the committee’s report on cosmetic procedures.

The report, published on 18 February, recommended that high harm procedures such as liquid Brazilian butt lifts, known as BBLs, should be banned immediately without further consultation.

MPs said the government is “not moving quickly enough” in introducing a licensing system for non-surgical cosmetic procedures and “should accelerate regulatory action”.

They also warned that “this lack of timely action is fostering complacency in self-regulation” within the industry.

In her letter, Smyth said the Department of Health and Social Care had “taken the decision to first of all focus on introducing legal safeguards for the cosmetic procedures posing the highest risks and I can confirm that we plan to consult on draft regulations in June”.

The letter added:

“Our intention is to issue a formal government response to the WEC report, once our consultation setting out our proposed approach and underpinning legislation is published.

“I acknowledge the concerns around the government’s pace of delivery in this area but, as you will appreciate, this is a complex area of policy and striking the balance between increased patient safety, placing new requirements on businesses and introducing proportionate and enforceable regulation is challenging.

“I recognise that regulation has not kept pace with the expansion of the aesthetics industry and, on that basis, I can assure you that we are committed to implementing licensing in the current parliament.”

Owen, chair of the Women and Equalities Committee and Labour MP, said:

“Further consultation and delay on clamping down on high harm procedures such as liquid BBLs is unacceptable. It allows unscrupulous people to continue to put women at risk and lets down those who have lost loved ones following these practices or who have come to serious harm themselves.

“As WEC’s report warned back in February, procedures that are deemed high risk such as liquid BBLs and liquid breast augmentations, which have already been shown to pose a serious threat to patient safety, should be banned immediately.

“While it is positive to hear a licensing system for non-surgical cosmetic procedures will be introduced within this Parliament, this issue requires faster regulatory progress, particularly in high harm areas, and the Government is not moving quickly enough.

“The Committee previously heard a powerful and shocking testimony from a woman who developed sepsis after having a liquid BBL. Her experience and those of many others provides clear evidence of the need to tackle this evolving wild west.”

A liquid BBL is a non-surgical procedure intended to alter the shape of the buttocks.

Sepsis is a potentially life-threatening response to infection that can lead to organ damage if not treated quickly.

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Menopausal hormone therapy could prevent bone loss or lower fracture risk – study

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Women who do not use menopausal hormone therapy have a greater risk of developing osteopenia or osteoporosis, conditions that weaken bones and can lead to fractures, disability and loss of independence, new research suggests.

The retrospective cohort study included 387 postmenopausal women who underwent DXA scans between 2021 and 2025. A DXA scan is an imaging test used to measure bone mineral density.

Participants were classed as menopausal hormone therapy users, who made up 33 per cent of the group, or non-users, who made up 67 per cent.

Low bone mineral density was defined as osteopenia, where bones are weaker than normal, or osteoporosis, where bones become more fragile and more likely to break.

Women taking menopausal hormone therapy had about 69 per cent lower risk of low bone mineral density in the spine and hip compared with those not using it.

The association remained after researchers accounted for age, time since menopause, vitamin D levels, smoking and other health conditions.

Diego Espinoza-Peralta, vice president of the Mexican Society of Nutrition and Endocrinology and principal investigator at Investigación Médica Sonora, said: “For years, many women have avoided menopausal hormone therapy because of safety concerns and warning labels.

“This study revisits that narrative and shows that menopausal hormone therapy may have an important added benefit: protecting bone health. That shifts the conversation from ‘avoid if possible’ to ‘reconsider in the right patient.’

“In simple terms: menopausal hormone therapy appears to independently protect bones, not just by coincidence.”

The findings suggest hormone therapy could help some women find relief from menopausal symptoms while preventing bone loss or lowering fracture risk.

Espinoza-Peralta said: “Clinicians may begin to weigh its benefits more carefully, especially in women early after menopause, potentially improving long-term health and quality of life.”

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