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Why carrier screening matters before starting a family

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Carrier screening is a crucial part of reproductive planning for individuals or couples who are thinking about starting a family.

It helps identify whether you carry genetic changes that could be passed on to your children, potentially causing inherited health conditions. At Jeen, our focus is on making these insights accessible, actionable, and easy to understand.

Why Carrier Screening Matters

Many serious genetic conditions are inherited in what’s called an autosomal recessive pattern. This means a person can carry a gene for a condition without showing any symptoms. But if both partners carry a gene for the same condition, there’s a one in four chance their baby could be affected.

Over 90% of people carry at least one genetic variant linked to an inherited condition, even if they’re perfectly healthy. These include conditions like cystic fibrosis, spinal muscular atrophy, sickle cell disease and thalassemia (alpha and beta types). Knowing your carrier status before conception or early in pregnancy gives couples the time to make informed choices, explore further testing if needed, and plan for the right care.

Understanding Your Options in the UK

There are several private carrier screening tests in the UK available, each with different levels of coverage and benefits. Unity by BillionToOne is ideal for those who are already pregnant. It combines carrier screening with non-invasive prenatal testing in a single maternal blood draw. If the mother is a carrier for a condition, the same blood sample is used to assess if the baby inherited it. No partner sample is needed, making this option highly convenient, especially in solo pregnancies or where the partner is unavailable. Unity is available privately from around £650 and delivers results in roughly two weeks.

Horizon by Natera can be used before or during pregnancy. It offers flexible panels ranging from 14 to over 600 conditions. It uses full gene sequencing for high accuracy and is widely used across fertility clinics and private labs in the UK. Prices start at around £450, depending on the size of the panel chosen. Results are typically ready within two to three weeks.

Beacon 787 by Fulgent Genetics is currently the most comprehensive carrier screening test, analysing 787 conditions. It is ideal for people from diverse backgrounds or those who want the most detailed insight. Beacon 787 is available through select private clinics in the UK and includes post-test genetic counselling. Prices start around £660 per person, and turnaround time is usually three to four weeks.

Making Informed Decisions as a Couple

If both partners are carriers for the same condition, there are options available such as prenatal diagnostic testing (like CVS or amniocentesis), IVF with genetic testing, or early medical planning. Advances in genetic technology now allow single-gene NIPT, which means it’s possible to determine the baby’s risk using only the pregnant person’s blood sample. This is especially useful if the partner is unavailable, and it provides clear answers quickly.

The Importance of Genetic Counselling

At Jeen, every test comes with the support of a trained genetic counsellor. Genetic counselling is essential for helping you understand what your results mean, how they might affect your family, and what next steps you can take. Our counsellors help you interpret the science in simple terms and offer practical guidance that’s tailored to your situation.

NHS vs Private Screening

In the UK, NHS carrier screening is limited to a few conditions like sickle cell and thalassemia, offered based on ethnicity or family history. Private screening, on the other hand, allows access to hundreds of conditions and is especially valuable for people planning a pregnancy or undergoing fertility treatment. If a high-risk result is found privately, the NHS can offer diagnostic follow-up and ongoing care.

Genetic Knowledge is Family Power

Carrier screening empowers you with knowledge about your own genetics and gives you the confidence to make informed decisions. Whether you’re thinking about starting a family or are already expecting, Jeen is here to guide you with simple, science-backed insights and supportive counselling.

Fertility

Applications open for the third W Accelerate with Merck KGaA and M Ventures

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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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Fertility

Older women face lower chance of fertility treatment working, even with donor eggs, study finds

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IVF success declines with age even when women use young donor eggs, with a marked fall from around 49, research suggests.

The findings challenge the idea that donor eggs can fully “reset” the reproductive clock, although researchers said they should not discourage older couples from trying.

Dr Beatrice Crestani, from an assisted reproduction medical institute in Italy, said reproductive ageing had traditionally been seen mainly as an issue involving the ovaries.

She said replacing older eggs with younger donor eggs was often believed to “reset” the reproductive clock.

Dr Crestani added: “Our findings suggest the picture is more complex.”

The study followed 1,774 women undergoing in vitro fertilisation, or IVF, using donated eggs. IVF involves fertilising an egg in a laboratory before transferring an embryo to the womb.

Women in their mid to late 30s had a 54 per cent chance of becoming pregnant after treatment, compared with around 43 per cent among those aged 49 or older.

Live birth rates fell from 46 per cent to 32 per cent, while miscarriage rates rose from 24 per cent to 38 per cent.

Women aged 49 and older had twice the risk of miscarriage compared with those aged 35 to 40.

Researchers believe changes to the endometrium with age may help explain the difference. The endometrium is the lining of the womb where a fertilised egg or embryo implants and grows.

Although the thickness of the womb lining was similar across the age groups, its condition declined with age.

Researchers said future work might find ways to predict, prevent or improve uterine ageing.

Dr Crestani said: “These findings should not discourage women from pursuing donor-egg treatment, because success rates remain meaningful even at advanced ages.

“However, patients should be counselled that donor eggs cannot completely eliminate the effects of reproductive ageing, particularly beyond 49 years.”

Among women who transferred all their available embryos, the live birth rate was around 80 per cent for those aged 35 to 40 and 62.5 per cent for those aged 49 or older.

Experts stressed that the health of the womb and ovaries differs between women.

There is no legal upper age limit for IVF in the UK, unlike some European countries. Greece has an upper limit of 54.

Women in the UK can donate or share their eggs up to the age of 36.

Regulators ask private UK clinics to assess the welfare of any resulting child and whether the recipient can safely carry a pregnancy.

NHS guidelines recommend offering three IVF cycles to women up to the age of 40 and one cycle to women up to the age of 42.

Patients using donor eggs usually have to fund that part of the treatment themselves.

People conceived using sperm, eggs or embryos from donors registered after 1 April 2005 can request identifying information about their biological donor parent once they turn 18.

The findings are being presented at the European Society of Human Reproduction and Embryology.

Professor Borut Kovacic, chair-elect of the society, said researchers were trying to better understand the “cross-talk” between an implanting embryo and the womb lining. This refers to the biological signals exchanged during implantation.

He said the age threshold associated with the beginning of a loss of uterine function was unlikely to be absolute.

Professor Kovacic added: “It provides important information for patients and offers a valuable foundation for future research aimed at identifying novel biomarkers of uterine ageing.”

Dr Ippokratis Sarris, chair-elect of the British Fertility Society, called for more research.

He said pregnancies could carry greater risks for older women and recommended thorough health checks and counselling for couples beginning fertility treatment.

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Women with PMOS should have annual NHS checks, new guidance says

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Women with PMOS should receive annual NHS checks to spot related health risks sooner, according to new draft guidance.

Polyendocrine metabolic ovarian syndrome (PMOS) is a complex condition that can have wide-ranging effects across the body.

It affects around one in eight women and was formerly known as polycystic ovary syndrome. It was renamed in May to better reflect its broader effects.

Draft guidance from the National Institute for Health and Care Excellence (NICE) calls for quicker diagnosis and better monitoring.

Marie Anne Ledingham, consultant clinical adviser for women’s and reproductive health at NICE, described the recommendation for a “simple” annual review as an “important step”.

She said: “This new guideline will help improve consistency of care, increase awareness of the condition, and support earlier diagnosis and management.”

PMOS is a major cause of female infertility. Symptoms can include irregular or absent periods, difficulty becoming pregnant, excessive facial or body hair, weight gain, hair loss, oily skin and acne.

An estimated three million to four million women have the condition in the UK, but NICE says it remains underdiagnosed and inconsistently managed.

The proposed annual reviews would cover current symptoms and longer-term health risks linked to the condition, including diabetes and heart disease.

NICE says lifestyle changes and treatment could help prevent more serious illness.

There is no cure for PMOS, but NHS treatments can help manage its symptoms. These include hormone support and fertility drugs.

The draft guideline does not recommend laser or light therapies for hair reduction because of the cost.

Many women report difficulty understanding the possible cause of their symptoms or experience delays before receiving a diagnosis.

When doctors suspect PMOS, they may use blood tests to assess hormone levels and ultrasound scans to look for the multiple follicles often seen on the ovaries of those affected. Follicles are small, fluid-filled sacs in which eggs develop.

The draft guideline sets out when healthcare professionals should suspect the condition and how women should be assessed and diagnosed.

It also says PMOS should not be ruled out in women who have been through the menopause.

The condition is thought to be more common among black, Asian and mixed-ethnicity women. NICE says healthcare professionals should consider this when assessing symptoms.

PMOS can also have a significant effect on mental health and quality of life, with depression and anxiety described as common among women with the condition.

Women planning a pregnancy should receive advice on weight, diet, nutrition, exercise, sleep and mental health, according to the guidance.

The draft guideline is open for consultation from 1 July to 11 August 2026, with feedback invited from healthcare professionals, patients and the public.

The final guideline is expected to be published in December 2026.

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