Connect with us

Diagnosis

Why carrier screening matters before starting a family

Published

on

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.

Diagnosis

WHO launches AI tool for reproductive health information

Published

on

The World Health Organization (WHO) has launched an AI tool in beta to help policymakers, experts and healthcare professionals access sexual and reproductive health information faster.

Called ChatHRP, the tool was created by WHO’s Human Reproduction Programme and draws only on verified research and guidance collected by HRP and WHO.

It uses natural language processing and retrieval-augmented generation to produce referenced content and cut the time spent searching through documents across different platforms and databases.

WHO said ChatHRP also has multilingual capabilities and low-bandwidth functionality to support use in a wide range of settings.

The beta-testing phase is aimed at a broad professional audience, including policymakers, healthcare workers, researchers and civil society groups.

WHO said the tool can help users quickly access up-to-date evidence, find sources for academic work and verify information on sexual and reproductive health and rights.

Examples of questions it can answer include the latest violence against women data in Oceania for women aged 15 to 49, recommendations on managing diabetes during pregnancy, and whether PrEP and contraception can be used at the same time. PrEP is medicine used to reduce the risk of getting HIV.

WHO added that the system will be updated regularly as new HRP materials are published and includes a feedback loop so users can flag gaps in the information provided.

The launch comes amid wider concern about misinformation in sexual and reproductive health.

A 2025 scoping review found that misinformation in digital spaces is a systemic issue that can undermine human rights, reinforce discriminatory social norms and exclude marginalised voices.

The review also said misinformation can affect health systems by shaping provider knowledge and practice, disrupting service delivery and creating barriers to equitable care.

WHO said ChatHRP is intended to give users streamlined access to reliable information as a counter to “algorithms, opinions, or misinformation”.

Continue Reading

Menopause

AI maps how reproductive organs age differently during menopause

Published

on

An AI atlas has mapped how reproductive organs age through menopause, with the ovaries, vagina and uterus changing on different timelines.

To better understand how this process affects health, researchers at the Barcelona Supercomputing Center developed what they describe as the first large-scale atlas of female reproductive system ageing, using artificial intelligence.

The team combined 1,112 tissue images from 659 samples, covering 304 women aged 20 to 70, with gene expression data from thousands of genes.

This allowed them to reconstruct how seven key reproductive organs, including the uterus, ovary, vagina, cervix, breast and fallopian tubes, age over time.

The study used the supercomputing power of MareNostrum 5 together with advanced image-recognition methods to process the data.

Using deep learning techniques, the researchers detected visible tissue changes as well as the underlying molecular processes linked to ageing in each organ.

The result was a detailed, organ-by-organ map of the reproductive system’s ageing process.

The researchers found that not all organs age in the same way or at the same speed. The ovaries and vagina showed a more gradual ageing process that begins even before menopause officially starts.

By contrast, the uterus appeared to undergo more sudden changes around the time of menopause.

Even within a single organ, different tissues aged at different rates. In the uterus, for example, the mucosa, its inner lining, and the muscular layer did not change in sync. These tissues also appeared to be particularly sensitive to the hormonal and biological shifts associated with menopause.

Marta Melé, leader of the transcriptomics and functional genomics group at BSC and director of the study, said: “Our results show that it acts as a turning point that profoundly reorganises other organs and tissues of the reproductive system, and allows us to identify the genes and molecular processes that could be behind these changes.”

Building on the finding that organs age according to different patterns, co-first author Laura Ventura said the research “paves the way for personalised medicine where treatments are tailored to a woman’s specific molecular profile and the specific tissues showing the most age-related distress.”

The study also identified molecular signals linked to reproductive ageing that can be detected in blood samples from more than 21,441 women.

These biomarkers could allow doctors to monitor the condition of reproductive organs in a non-invasive way, potentially helping to anticipate risks such as pelvic floor complications without the need for biopsies.

According to the researchers, this could lead to simpler and more accessible clinical tools for tracking women’s health over time.

Continue Reading

Pregnancy

Early miscarriage care could prevent 10,000 pregnancy losses a year, study finds

Published

on

Early miscarriage care after a first loss could prevent about 10,000 pregnancy losses a year in the UK, according to a new study.

The study by Tommy’s National Centre for Miscarriage Research and Birmingham women’s hospital involving 406 women found a 4 per cent reduction in the risk of future miscarriage for women on the graded model of care compared with usual care.

Women in England, Wales and Northern Ireland currently become eligible for specialised NHS care for early baby loss only after they have had at least three miscarriages.

Tommy’s has called for women to become eligible after one miscarriage, saying this could reduce the risk of future miscarriages and improve health outcomes for mothers.

Researchers said that would translate to 10,075 fewer miscarriages a year across the UK.

Kath Abrahams, chief executive of Tommy’s, said women were being “left without early access to services that could help prevent future losses and reduce the debilitating feelings of isolation and hopelessness that we know affect so many who experience pregnancy loss”.

She said: “Our pilot study indicates that providing support after a first miscarriage, with escalating care after further losses, is not only effective but achievable without significant additional workload for NHS teams who are already working extremely hard to deliver good care.

“Put simply, it is the right thing to do. We will do all we can to drive that change across the UK so that more women and families are supported after every miscarriage.”

The graded model of miscarriage care proposed by Tommy’s is already available in Scotland, and the charity is calling for it to be introduced across the whole of the UK.

The graded model includes nurse-led support after one miscarriage, with advice on reducing risk factors such as low vitamin D, folic acid intake, alcohol consumption and caffeine use.

Women who received the specialised care were 47 per cent more likely to have a risk factor identified and receive relevant advice to help prevent future miscarriages than women receiving usual care, the study found.

Among women who had experienced two miscarriages and received the specialised care, one in five were found to have thyroid dysfunction or anaemia, both conditions that can affect pregnancy outcomes.

About one in four pregnancies ends in miscarriage, most often within the first 12 weeks of pregnancy.

The report comes ahead of the long-awaited final findings of the government’s investigation into maternity care in England. Interim findings uncovered a range of failures, including claims that NHS hospitals that caused harm to women and babies during childbirth often resorted to a “cover-up” of their mistakes, falsified medical records and denied bereaved parents answers.

Women’s health minister Gillian Merron said: “Pregnancy and baby loss can have a devastating impact on women and families, who too often feel they have been left without the care and support they need.

“I welcome the findings of this important report, and this will be carefully considered as part of our ongoing work to make sure women get the high-quality, compassionate NHS care they deserve.”

Continue Reading

Trending

Copyright © 2025 Aspect Health Media Ltd. All Rights Reserved.