Pregnancy
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.
Pregnancy
Ultrasound Direct extends Trice Imaging partnership

Ultrasound Direct has extended its Trice Imaging partnership for three years, adding a reporting tool across its 70-clinic UK network.
The private ultrasound provider will continue using the Tricefy platform for secure image storage and patient engagement, alongside TriceIQ for efficiency and productivity analytics.
It will also introduce Trice Workspace Reporting across its network. The companies say the tool will help standardise ultrasound reporting templates and workflows and reduce variation between clinics.
Ultrasound Direct carries out an estimated 120,000 patient scans each year across services including pregnancy, fertility, women’s health, men’s health and other diagnostic pathways.
Its network uses a large pool of sonographers working across different ultrasound systems and serves referral routes including self-referring patients, GPs and commercial partners.
Mike Steward, founding director at Ultrasound Direct, said: “Having worked with Trice Imaging since 2018, we first partnered to replace manual methods of providing scan images to expectant parents with Trice’s secure electronic image-sharing platform. Today, every study performed across the Ultrasound Direct Network is recorded and stored on Tricefy, while our clinical services have expanded considerably beyond pregnancy into fertility, women’s health, men’s health and other diagnostic pathways.”
He added: “To continue futureproofing our image management strategy across a network of 70 clinics, a large team of sonographers, varying ultrasound systems and a growing number of referral partners with different needs, we decided to extend with Trice Imaging. This includes the introduction of the new Trice Workspace Reporting module to help us scale and standardise our ultrasound reporting templates and workflow, reducing variability between clinics.”
The partnership began in 2018, initially focusing on replacing manual methods of sharing pregnancy scan images with expectant parents.
Johanna Wollert Melin, founder and chief executive of Trice Imaging Europe, said: “Ultrasound Direct has been a valued partner in the UK for 8 years.”
She added: “At the heart of the relationship is a willingness to explore new ideas, test new tools and the spirit to solve real challenges across a large and complex clinical network.”
Mark A. Samii, chief revenue officer at Trice Imaging, said: “We are delighted to retain and extend our relationship with Ultrasound Direct.”
He added: “The addition of Trice Workspace Reporting addresses a challenge we hear from multi-site providers globally – keeping reporting quality consistent across many users, systems, referral or payer relationships.”
Steward said Ultrasound Direct continues to see growing demand for private diagnostics alongside NHS care from self-referring patients and an increasingly diverse range of professional and commercial referral partners.
He added: “As that development continues, scalable digital infrastructure becomes increasingly important. Our focus is on ensuring that a growing national network can support consistent clinical workflows, different referral pathways and the technology requirements of the future, while continuing to provide patients with accessible diagnostic services.”
Pregnancy
Paracetamol use may impact future fertility, studies suggest

Paracetamol use in pregnancy was not linked to autism or ADHD, while separate research found reproductive differences in girls exposed before birth.
One study analysed health records from more than 120,000 children and found no increased risk of autism following prenatal paracetamol exposure.
A separate analysis of nearly 100,000 children also found no increased risk of ADHD among those born to mothers who used the painkiller during pregnancy.
Researchers from the Hong Kong Hospital Authority examined electronic health records covering pregnancies between January 2001 and December 2023.
The autism analysis included 124,333 children, who were nine years old on average and split almost evenly between males and females. There were 3,445 autism diagnoses, representing 2.8 per cent of the group.
The ADHD analysis involved 97,285 children, who were seven years old on average and also split evenly between males and females. There were 5,168 ADHD diagnoses, representing 5.3 per cent.
Women prescribed paracetamol during pregnancy were more likely to be older and have pre-existing conditions including psychiatric disorders, as well as reasons for taking the drug such as infection, fever or chronic pain.
No association was found between prenatal paracetamol exposure and either autism or ADHD.
The findings did not differ according to the trimester in which paracetamol was taken or whether use was intermittent or daily. Advanced maternal age, defined as pregnancy in women over 35, did not alter the findings.
The researchers wrote: “Paracetamol remains a safe and essential analgesic [pain reliever] and antipyretic [fever reducer] during pregnancy, whereas alternatives, such as NSAIDs and opioids carry well-documented risks.
“Unwarranted reluctance to use paracetamol could lead to undertreatment of pain and fever, or the use of more harmful alternatives, both posing risks to the pregnancy and developing fetus.”
The authors said women should assess paracetamol use with guidance from their doctor.
A separate study involving 685 pregnant women without pre-existing conditions and 302 infant daughters found associations between prenatal paracetamol exposure and differences in reproductive organs and hormone levels.
Researchers from Copenhagen University Hospital enrolled the women during their first trimester and assessed them during the first trimester, third trimester and again when their babies were three months old.
At around three months, infants experience a temporary rise in reproductive hormones sometimes called mini-puberty.
Pregnant participants completed questionnaires every two weeks about their use of pain medicines including paracetamol. Infant girls underwent ultrasound scans of their reproductive organs and blood tests to measure hormone levels.
Researchers also examined a separate group of 1,210 girls followed from infancy to adolescence whose mothers reported paracetamol use during the third trimester.
Three-month-old girls exposed to paracetamol before birth had an average 40 per cent smaller ovarian volume, 13 per cent smaller uterine volume and 23 per cent fewer ovarian follicles.
Girls exposed during the first trimester also had lower levels of Anti-Müllerian hormone, a marker of ovarian function.
Among the older girls, those exposed before birth were more likely to have smaller uteruses at puberty and smaller ovaries during their teenage years.
Dr Margit Bistrup Fischer, lead study author and postdoctoral researcher in the Department of Growth and Reproduction at Rigshospitalet hospital in Denmark, said: “Animal studies have demonstrated that impaired formation of ovarian follicles can lead to reduced fertility and earlier reproductive aging.
“Whether the differences observed in our study have implications for fertility and age at menopause in humans remains unknown and will require long-term follow-up of the girls in our cohort.”
She cautioned that women who had used paracetamol during pregnancy “should not be alarmed by our findings”, as the study found associations rather than direct causation and outcomes for individual women and children are unclear.
“Importantly, our study does not evaluate whether [acetaminophen] causes reproductive problems, nor does it provide evidence that prenatal exposure affects future fertility or age at menopause,” she said.
“Although we observed similar associations in an independent cohort, long-term follow-up is needed to determine whether these early-life differences have any clinical significance later in life.”
Wellness
Pregnant women prioritised as NHS rolls out flu vaccine

Pregnant women are among the first groups offered the NHS flu vaccine this winter, which has been updated to better match the subclade K strain.
Schoolchildren are also being prioritised and, like pregnant women, can receive the vaccine from September because they can catch and spread flu easily.
Protecting them also helps others, including younger siblings and grandparents.
Other eligible groups, including people aged 65 and over, will be able to receive a free NHS flu vaccine from October and should receive an invitation by phone or post.
Dr Amanda Doyle from NHS England said: “Last year’s flu season came early and was made worse by a new variant, which had a major impact for patients and put enormous pressure on urgent and emergency care services across the country.
“With the NHS experiencing its busiest summer on record, staff have started preparing for this winter earlier than ever – and with services already under significant pressure, it is vital that everyone offered the vaccine comes forward.”
Last winter’s flu season began more than a month earlier than usual as a new mutated strain circulated.
The strain was sometimes referred to as “Super flu”, although this is not a medical term and does not mean the virus is harder to treat. The name reflected that people had yet to build up immunity against it.
Flu vaccines are updated each year to better match the influenza viruses expected to circulate. These viruses continually mutate, so experts must predict how they are likely to change.
This winter’s vaccine includes changes intended to provide a better match for subclade K.
It remains unclear when flu will begin circulating widely this winter or how severe the season will be. Experts often look at flu activity in southern hemisphere countries such as Australia and New Zealand for indications of how the UK season could develop.
Their flu season peaks in July or August. Australia has recorded fewer cases than last year, while New Zealand has experienced high numbers.
Everyone is at risk of catching flu, regardless of age or how fit and healthy they are.
Doyle said: “Flu can really knock you for six, and for some children and pregnant women it can mean becoming seriously ill or ending up in hospital.”
The flu vaccine cannot give you flu. Instead, it helps the body know how to fight the virus.
Children aged two and over receive a nasal spray version, while adults receive an injection. One dose is needed ahead of winter.
Free NHS flu vaccines are available through pharmacies, GPs and schools. People who are not eligible for a free vaccination can pay around £10 to £20.
Schoolchildren and pregnant women can receive a free NHS flu vaccine from September onwards.
From October, free vaccination will also be available to children aged two or older who have not yet started school, people aged 65 and over, those with certain long-term health conditions, care home residents and carers of older or disabled people, including those receiving a carer’s allowance.
It will also be available to people living with someone who has a weakened immune system and those experiencing homelessness or staying in a homeless hostel or night shelter.
More adults will also be offered vaccination against respiratory syncytial virus (RSV), a virus that attacks the lungs, this winter.
From September, adults with certain pre-existing health conditions, such as chronic lung disease, will be invited for the RSV vaccine when they turn 65 rather than waiting until 75.
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