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.
AI could transform ovarian care by personalising cancer and fertility treatment, but more clinical validation is needed before routine use.
A systematic review and meta-analysis found AI models showed high diagnostic accuracy for ovarian cancer when combining data such as ultrasound scans and blood test results.
Across 81 studies, AI models correctly identified ovarian cancer in around nine out of 10 cases, with pooled rates of 89 to 94 per cent.
They were also highly accurate at ruling out ovarian cancer when it was not present, with specificity of 85 to 91 per cent.
The analysis also found that explainable AI tools could predict complete surgical cytoreduction in advanced ovarian cancer.
Complete surgical cytoreduction means removing all visible cancer during surgery, which can be an important goal in treatment planning.
The tools achieved a pooled AUC of 0.87. AUC is a measure of how well a model distinguishes between different outcomes, with higher scores showing stronger performance.
In reproductive medicine, AI algorithms helped physicians optimise ovarian stimulation protocols and predict follicular growth during IVF.
Ovarian stimulation is the use of hormones to encourage the ovaries to produce eggs, while follicles are the small sacs in the ovaries where eggs develop.
The review found AI could reliably model ovarian response in IVF with a pooled AUC of 0.81.
However, researchers said challenges remain in translating promising research findings into routine clinical practice.
They identified substantial variation across studies, driven by retrospective study designs, variable AI systems and a lack of standardised validation.
Only 22 per cent of analysed studies reported prospective, multicentre external validation, where models are tested forward in time across multiple healthcare settings.
The authors called for rigorous validation to help close the gap between research and routine clinical practice, alongside standardised methodological and reporting frameworks, smooth integration with clinical workflow and robust governance to support responsible and ethical AI use.
They concluded: “Artificial intelligence is a transformative force in the management of ovarian conditions.
“In gynaecologic oncology, AI enhances every phase of care, from early detection and accurate diagnosis to prognostic stratification and surgical planning.”
In reproductive medicine, AI personalises ovarian stimulation and refines the diagnosis of heterogenous endocrine disorders such as PCOS.
PCOS, or polycystic ovary syndrome, is a hormonal condition that can affect periods, skin, weight and fertility.
Housing, work and fertility pressures are stopping many Britons growing the families they want, new research suggests.
A UK fertility report found that 79 per cent of people surveyed who had tried to conceive in the past five years would like more children than they currently have.
Among parents with one child, that figure rises to 88 per cent.
The report surveyed more than 1,000 people across the UK who had tried for a baby in the past five years.
While birth rates continue to fall, the findings suggest it is not because people no longer want children. Instead, many respondents said external pressures are making it harder to grow their families.
The findings, from wellness brand Wild Nutrition’s Fertility Disconnect report, highlight how financial pressures, fertility struggles and gaps in reproductive health knowledge are shaping modern family life in the UK.
Gail Madalena, fertility nutritional therapist at Wild Nutrition, said: “People often assume fertility begins the moment they decide to try [for a baby].
“In reality, egg and sperm health are shaped months and years earlier.
“By the time someone starts thinking about fertility, their body has already been responding to its environment for a long time.”
Among the biggest barriers, 26 per cent said career progression affected their family plans, 25 per cent cited housing affordability and lack of space, and 52 per cent said they required medical intervention during their fertility journey.
The report also found that almost a quarter of respondents had spent more than two years trying to conceive.
Trying for a baby can take a significant toll on mental health and relationships, especially for those navigating fertility treatment.
According to the research, 38 per cent of respondents said trying to conceive had negatively affected their mental health. That figure rose to 99 per cent among people undergoing fertility treatment.
Julianne Boutaleb is a perinatal psychologist.
She said: “Navigating a fertility journey is about so much more than medical appointments and procedures.
“It’s an emotional marathon that can take a huge toll on your mental wellbeing.
“Sadly, the stats show that 15 per cent of couples going through fertility treatment say their relationship has been irrevocably impaired.”
The report also highlighted the realities of secondary infertility, which affects around one in 20 people, challenging the assumption that having one child means conceiving again will be straightforward.
Researchers found many people felt under-informed about fertility, particularly younger adults.
Ten per cent of Gen Z respondents said they “know nothing” about fertility, while only one in five respondents said they know “a lot” about egg health.
The report also found that 60 per cent of women were unaware of fertility testing options, and one in five Gen Z respondents said they felt uncomfortable discussing fertility, even with their partner.
Around 40 per cent of those surveyed supported fertility education being included in schools, covering topics such as egg health, sperm health and hormonal health.
The report also explored how lifestyle and long-term health may influence fertility outcomes.
Many respondents said they only made changes once they started trying to conceive.
Some 44 per cent improved their diet when trying for a baby, while 32 per cent reduced alcohol intake at that stage.
The report also referenced emerging research that suggests ultra-processed foods and microplastics could have an impact on reproductive health.
While fertility conversations often focus on women, the findings showed male fertility issues are also affecting many families.
Seventeen per cent of respondents cited sperm health issues as a barrier to conception, while male factors contribute to around half of all fertility challenges.
Only one in four men said they would share fertility struggles with friends.
“Many causes of male infertility are entirely treatable yet so often the last resort is the first response,” said Ian Stones, co-founder at Test Him Ltd.
The findings come as UK birth rates remain below replacement level.
The report noted that the UK fertility rate is now 1.41, meaning that on average women give birth to 1.41 children over their lifetimes. The replacement rate, or rate that maintains population numbers, is 2.1.
It also said the average age of mothers has risen to 31, while birth rates are falling across most age groups except among over-40s.
“There is no single fertility story, and it is rarely a simple, linear narrative,” said Dr Zeynep Gurtin, lecturer in women’s health at UCL.
Dr Gurtin added that better fertility education, fairer access to treatment and more open conversations around infertility and pregnancy loss are needed.
Femtech World is thrilled to reveal the shortlist for the Fertility Innovation Award.
The award, sponsored by FinDBest IVF, celebrates a pioneering product, service or initiative that is transforming fertility care and support.
FinDBest IVF is a global B2B digital platform created to simplify and accelerate how IVF and ART manufacturers connect with trusted, pre-vetted distributors around the world.
This year’s nominees represent a remarkable breadth of approaches to fertility care: from clinic-floor breakthroughs to at-home hormone intelligence to truly borderless access.
Three companies made the cut, with each tackling a real, persistent barrier in reproductive health.
Congratulations to the shortlist and many thanks to everyone who entered.
Fertility Innovation Award Shortlist
HRC Fertility’s Needle-Free IVF is a pioneering advancement designed to transform one of the most challenging aspects of fertility treatment: daily hormone injections.
Developed by board-certified reproductive endocrinologist Dr Rachel Mandelbaum, this innovative approach reimagines how stimulation medications are delivered during IVF and egg freezing, dramatically improving the patient experience while maintaining the same trusted clinical outcomes.
Inspired by feedback from patients who struggled with the injection process, Dr Mandelbaum adapted an innovative drug-delivery system commonly used in other areas of medicine and applied it to reproductive care
Mira is a hormonal health technology company that provides lab-grade hormone testing and AI-driven insights to help women and couples understand their fertility.
The platform has already supported more than 200,000 couples on their fertility journeys worldwide, helping over 60,000+ users achieve pregnancy.
For some users, pregnancy rates have reached up to 89 per cent within six months, demonstrating how accurate hormone data can significantly improve fertility outcomes.
Founded in 2021 by Marija Skujina, a Certified Fertility Nurse Specialist accredited by the European Society of Human Reproduction and Embryology, with nearly 15 years of clinical experience at one of the world’s top IVF clinics, and having navigated her own fertility journey as a patient, Marija built the clinic she had always wished existed.
Plan Your Baby began with a bold, but simple mission – make best quality fertility and pregnancy available anywhere.
Plan Your Baby has created a new generation fertility and pregnancy clinic with patients accessing expert consultations remotely, while blood tests and ultrasound scans are available at over 450 locations across the UK, eliminating the exhausting travel burden that often forces people to take days off work, relocate appointments, or abandon treatment altogether
What happens now
The shortlist will be judged by a representative from category sponsor FindBestIVF, with the winner announced at a virtual event on June 19.
Winners will receive a trophy and be interviewed by a Femtech World journalist.
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