Fertility
Genetic carrier screening before pregnancy: What to know
Article produced in association with London Pregnancy Clinic and Jeen Health
For the majority of couples planning a pregnancy, genetic testing is not something they think about until a problem arises.
Pre-conception genetic carrier screening challenges this approach by identifying risk before pregnancy begins.
As panel sizes have grown and at-home testing options have become widely available, carrier screening is transitioning from a niche clinical referral into a mainstream component of reproductive planning.
What Carrier Screening Tests For
Being a carrier of a genetic condition means carrying one copy of a variant in a gene associated with that condition, without being affected by it.
In most cases, carriers are entirely unaware of their status.
The clinical significance of carrier status emerges when both members of a couple carry a variant in the same gene: in this scenario, each pregnancy carries a one in four chance of resulting in a child who inherits two copies of the variant and is affected by the condition.
The conditions most frequently included in expanded carrier screening panels include cystic fibrosis, spinal muscular atrophy (SMA), fragile X syndrome, sickle cell disease, and a range of metabolic and enzyme deficiency disorders.
The Beacon 787 carrier test, offered by Jeen Health, screens for 787 conditions from a single sample, making it one of the most comprehensive panels currently available to UK families.
Who Is Most Likely to Benefit
Any couple planning a pregnancy can consider carrier screening. It is particularly relevant for:
- Couples with a family history of a known inherited condition
- Those from populations with higher carrier frequencies for specific conditions, including Ashkenazi Jewish, South Asian and African communities
- Couples pursuing fertility treatment, where genetic information informs treatment planning
- Those who wish to have the most complete picture of their reproductive health before conception
Importantly, being a carrier of a condition does not mean a child will be affected. It means there is a defined statistical risk that can be quantified, discussed and planned for with appropriate clinical support.
How the Test Is Performed
Carrier screening is typically carried out on a blood or saliva sample.
For at-home options such as the testing offered by Jeen Health, a cheek swab collection kit is dispatched to the patient, the sample is returned by post, and results are delivered digitally within a defined turnaround period.
In-clinic carrier testing may use a blood draw and provides the advantage of immediate access to a clinical consultation at the point of result delivery.
London Pregnancy Clinic offers genetics counselling through its partnership with Jeen Health, allowing couples to receive and contextualise carrier test results with expert support.
Genetic counselling before and after testing is recommended by Genomics England as a standard component of any genomic testing pathway.
What Happens If Both Partners Are Carriers
If both partners are identified as carriers for the same autosomal recessive condition, they are typically offered further counselling to discuss their options.
These may include proceeding naturally with an awareness of the risk, using prenatal diagnosis (CVS or amniocentesis) during pregnancy to test the fetus, or pursuing preimplantation genetic testing (PGT) in the context of IVF, which allows unaffected embryos to be selected before transfer.
The purpose of identifying carrier status before pregnancy is to give couples time to consider these options without the added pressure of an ongoing pregnancy.
Knowledge of carrier status does not remove reproductive choices; it expands the information available when making them.
The Role of Pre-Conception Services
Carrier screening sits within a broader category of pre-conception care that includes fertility assessments, general health optimisation and, where relevant, management of existing conditions before pregnancy begins.
London Pregnancy Clinic offers pre-conception services encompassing fertility investigations, genetics counselling and carrier testing as part of an integrated 0th trimester approach, allowing couples to address genetic and clinical risk factors before their pregnancy starts rather than after.
Disclaimer: This article is produced for informational purposes only and does not constitute medical advice, diagnosis or treatment.
Clinical guidance referenced reflects published NHS, NICE and RCOG standards as at March 2026. Individual circumstances vary; readers are advised to consult a qualified healthcare professional before acting on any information in this article.
This piece was produced in association with London Pregnancy Clinic and Jeen Health, which provided background clinical information for editorial purposes.
Hyperlinks to external sources are included for reference only and do not represent an endorsement of any product, service or organisation.
Onto Health has acquired Levy Health, a fertility software company providing precision diagnostics and patient intake for reproductive medicine.
The acquisition, fuelled by Onto Health’s US$20m Series A fundraise in April, supports its plan to build scalable, tech-enabled infrastructure for reproductive medicine.
Onto founder Roohi Jeelani, MD, called it the first of several moves in the company’s expansion strategy in a LinkedIn post, adding that there was “more coming soon”.
She said: “This isn’t just an acquisition, it’s proof of how we’re building Onto: physician-led, tech-enabled, and built to scale without losing the personal touch fertility patients deserve.”
Headquartered in Chicago, Onto Health combines evidence-based fertility care with artificial intelligence-driven diagnostics, clinical automation and longevity science.
AI-driven diagnostics use software to analyse patient information and support clinical decision-making, rather than replace clinicians.
Levy Health, founded in Berlin with US offices in San Francisco, helps medical providers identify endocrine disorders more quickly and helps clinics streamline fertility workups.
Endocrine disorders affect the body’s hormone system, which can influence ovulation, menstrual cycles and fertility.
Co-founder Caroline Mitterdorfer said joining Onto would expand Levy Health’s fertility care tools to more clinics and patients, helping physicians focus on patient care.
Onto opened its first clinic in Chicago in February, with plans for three more in the greater Chicago area.
The company said in April that it would use its new funding, led by Artis and Humania, to support additional operations in the US and expand into the Gulf Cooperation Council.
The Gulf Cooperation Council includes six Arab states bordering the Persian Gulf.
Softening ageing ovaries could help women remain fertile for longer, early animal research suggests.
Fertility declines with age for several reasons, including poorer egg quality, fewer ovarian follicles and the gradual stiffening of ovarian tissue.
Existing fertility treatments, including hormone therapy and in vitro fertilisation, mainly address hormonal imbalances or help eggs mature or become fertilised.
Scientists are now examining whether changing the physical structure of the ovaries could provide another route for future fertility treatments.
Stuart A. Cook, of the Cardiovascular and Metabolic Disorders Programme at Duke-National University of Singapore Medical School, published an accompanying commentary on the research.
Researchers led by Shixuan Wang at Huazhong University of Science and Technology in Wuhan, China, collected healthy ovarian tissue from younger, middle-aged and older women.
They also examined samples from patients with polycystic ovary syndrome, known as PCOS, premature ovarian insufficiency, or POI, and endometriosis.
PCOS is a hormonal condition that can disrupt ovulation. POI occurs when the ovaries stop working normally before the age of 40, while endometriosis causes tissue similar to the womb lining to grow elsewhere in the body.
Tests of protein levels and gene activity found higher levels of the inflammatory protein interleukin-11, or IL-11, in ageing and diseased ovaries.
In laboratory experiments, the researchers exposed ovarian fibroblasts to IL-11. Fibroblasts are cells that produce connective tissue.
The protein caused the cells to produce excess collagen, a structural material that can build up during scarring and make tissue stiffer.
The researchers then genetically modified mice so they could not respond to IL-11. The animals developed less ovarian stiffening and maintained better ovarian function as they aged.
Similar results were seen in mouse models of PCOS and POI caused by chemotherapy.
In the final part of the experiment, older mice and rats were injected with a nanoparticle treatment containing small interfering RNA, or siRNA, designed to switch off IL-11.
The treatment made the animals’ ovaries less stiff and improved fertility.
Pregnancy rates among older mice rose from 25 per cent to 50 per cent, while average litter sizes also increased.
More rats treated with the therapy became pregnant and produced larger litters.
The approach remains highly speculative and will require considerably more research before its safety or effectiveness in women can be established.
However, the researchers said blocking the inflammatory pathway could eventually form the basis of new fertility treatments.
They said: “We propose that anti-IL-11 therapy represents a promising translational strategy for delaying ovarian ageing.”
W Group has opened applications for W Accelerate with Merck KGaA and M Ventures, inviting reproductive and maternal health startups, scaleups and spinouts to pitch for direct access to global pharma partnership and strategic investment.
Selected companies will pitch on 5th October, competing for the chance to accelerate their growth through commercial partnerships, investment, or both.
This is the third time Merck KGaA, a global leader in reproductive health, has partnered with W Group on the programme, which exists to close the innovation and investment gap in women’s health by connecting the sector’s most promising startups directly with the corporates and investors positioned to scale them.
What Merck KGaA and M Ventures are looking for
This year’s call is focused on breakthrough solutions in female infertility, fertility preservation, adenomyosis, endometriosis, polyendocrine metabolic ovarian syndrome (PMOS), ovarian insufficiency, preeclampsia and pregnancy comorbidities.
New for this round, applicants choose between three pathways depending on what they need from the programme:
- The Partnership Lane, for companies seeking commercial collaborations and strategic relationships
- The Investment Lane, for founders looking to connect with investors and secure funding to scale
- The Dual Lane, for innovators pursuing both partnership and investment opportunities
How the Accelerate event works
Selected companies get a 1:1 pitch practice session ahead of time, then a private 30-minute session with Merck KGaA and M Ventures leadership on the day itself, small-group sessions with regulatory and investment strategy experts, an “Ask Merck Anything” roundtable, and a VIP networking reception.
Key dates
- Open call launches: 8th July
- Open call closes: 2nd September
- Notification of successful companies: 11th September
- Pitch day: 5th October
Applications are open now at wplatform.typeform.com/to/KGzviBQM.
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