News
Comment: Should women consider carrier screening before trying to conceive?

By Amber Kaplun, lead genetic counsellor for IVI RMA North America.
Are you thinking about having a baby? Here’s one thing to consider that may not yet be on your radar: preconception genetic carrier screening. This testing helps evaluate the chances of having a child with a recessive genetic condition and can offer invaluable insights for family planning.
Preconception genetic carrier screening helps evaluate the chances of having a child with a recessive genetic condition. These tests are relevant for heterosexual couples planning a family and LGBTQ+ couples using egg or sperm donors, as results guide the selection of genetically compatible donors.
Carrier screening is critical for evaluating the likelihood of a child inheriting a recessive genetic condition, which occurs when both biological parents carry a mutation in the same gene.
These conditions, such as cystic fibrosis (CF) or sickle cell anemia, can lead to significant lifelong health challenges, requiring specialised care or treatment. Understanding risks in advance allows prospective parents to make considerations for these possibilities during their family planning.
For example, consider a scenario where both partners are carriers of the CF gene. This creates a 25 per cent chance of their child being born with the condition. Armed with this knowledge, couples can explore options such as in-vitro fertilization (IVF) with preimplantation genetic testing (PGT-M) to use embryos without the condition or plan for diagnostic testing during pregnancy to prepare for the needs of a child with CF.
Expanded carrier screens typically test for over 400 conditions, making it common for individuals to be carriers of at least one condition. If one partner tests positive, testing the other partner is recommended to determine the child’s potential risk. For smaller panels of conditions, testing one partner may suffice. Ideally, this screening is completed before pregnancy.
However, carrier screening does not cover all genetic conditions. If there is a family history of genetic disorders, consulting with a physician or genetic counselor is essential to ensure appropriate testing. Additionally, while carrier screening lowers the risk, it cannot eliminate it; every pregnancy has a two to three percent chance of unexpected complications.
Starting the conversation with your provider
Patients are encouraged to work with healthcare providers—OBGYNs, genetic counselors, reproductive endocrinologists, or other professionals—for carrier screening. Direct-to-consumer tests, such as 23andMe, often lack the comprehensive results and reliability of screenings facilitated by certified labs. By working with a reproductive medicine provider, you’ll ensure the highest quality testing and expert guidance through the process.
Preparing your family history
A thorough family history is invaluable when meeting with a genetic counselor. Be ready to discuss any relatives diagnosed with genetic conditions, intellectual disabilities, autism, birth defects, or fertility issues like recurrent miscarriages. This information helps identify additional genetic tests that may be necessary beyond carrier screening.
Pros and cons of genetic carrier screening
Carrier screening offers significant benefits. When done before pregnancy, it allows medical teams to offer tests that minimize risks. Options such as testing embryos during IVF (preimplantation genetic testing) or prenatal tests like CVS (chorionic villus sampling) or amniocentesis that check for genetic abnormalities in a fetus may be available.
However, there are challenges. Insurance coverage isn’t guaranteed, though some labs provide affordable cash-pay options. Occasionally, results may reveal unexpected personal health information or leave uncertainties, such as not knowing the severity of a potential condition. Working with a genetic counselor ensures you receive the most accurate and up-to-date information.
Navigating test results
After receiving carrier screening results, here’s how common scenarios might unfold:
- One partner is a carrier, but the other is not: The risk of having an affected child is low. In most cases, no reproductive testing is needed, as the biggest risk is having a child who is also a carrier, which is common and generally harmless.
- Both partners are carriers of the same condition: There is a 25 percent chance of having an affected child. Couples are counseled on reproductive options, such as IVF with genetic testing of embryos (PGT-M) to avoid passing on the condition. For pregnancies already underway, diagnostic tests like CVS or amniocentesis can determine if the fetus is affected.
- Female carrier of an X-linked condition: Women who carry X-linked conditions, such as hemophilia, have a 25 percent chance of having an affected son. Reproductive testing and counseling options are available to address these risks.
- Neither partner is a carrier: While this outcome is rare, it’s reassuring. However, it’s important to remember that rare or mild conditions not included in the screening may still be present.
Words of wisdom for hopeful parents
Parents should expect to be a carrier of at least one condition—some people may carry several. Testing both partners simultaneously can reduce anxiety. If your results indicate high-risk findings, consult a genetic counselor for guidance. Most importantly, remember that for most couples, carrier screening provides reassurance. If challenges arise, they represent a reshaping of your family-building journey, not an end to it. Finding the right fertility care team ensures you’ll have the support you need every step of the way.
Fertility
GLP-1 drugs do not increase pregnancy risks, study finds
Cancer
New scan could speed up endometriosis diagnosis

Obesity may be a key driver of rising rates of 11 cancers in adults under 50, a study has found.
The 11 cancers were thyroid, multiple myeloma, liver, kidney, gallbladder, colorectal, pancreatic, endometrial, oral, breast and ovarian cancers.
All except oral cancer are known to be linked to excess weight, with researchers saying raised insulin levels and inflammation may play a part.
The findings come from researchers at the Institute of Cancer Research, London and Imperial College London, who analysed national cancer registry data for England from 2001 to 2019.
In England, around 31,000 cancers were diagnosed in people aged 20 to 49 in 2023, equal to roughly one in every 1,000 people. This compares with 244,000 cases in the 50 to 79 age group, where the rate is around one in 100.
Concerns have been growing in recent years over rising rates of cancers such as bowel and ovarian in younger adults.
Among the younger group, breast cancer was the most common, with 8,500 cases, followed by bowel cancer at 3,000 and melanoma skin cancer with 2,800 diagnoses.
For nine of the 11 cancers identified, rates are rising in younger adults but also increasing in older adults, who are much more likely to develop the disease. Bowel and ovarian cancer were the exceptions, rising only in younger age groups.
The researchers found that bowel cancer rates in younger women linked to BMI rose faster, from 0.9 to 1.6 per 100,000 people, than those not linked to BMI, which rose from 6.4 to 9.6 per 100,000 people. Similar patterns were recorded for men.
However, the authors noted that the overall number of cases of BMI-linked bowel cancer in younger women remained lower than those not linked to BMI, suggesting other factors must be contributing to the increase.
Several suspected contributors, including ultra-processed foods, antibiotic use and air pollution, have been proposed in recent years. However, many of these factors have also shown stable or declining trends in the UK, the team said.
Despite the rise in several cancer rates among younger adults over the past two decades, most established risk factors, including smoking, alcohol consumption, red or processed meat intake, low fibre diets and lack of exercise, remained stable or even declined in the period leading up to diagnosis.
This suggests these traditional risk factors are unlikely to account for much of the increase in cancer cases.
By contrast, overweight and obesity, which have increased steadily since 1995, could be key factors in the rise in cases. The team suggested that between 2001 and 2019, around 20 per cent of the increase in bowel cancer was explained by increases in BMI over that period.
However, the researchers said rises in BMI alone are not enough to explain the overall increase in cancer among younger adults in England and that there are likely to be other causes.
Data also suggest around 15 per cent of bowel cancer in younger people could be linked to being overweight or obese, with around 40 to 50 per cent in total linked to the combined effect of known risk factors such as obesity, lack of exercise, alcohol and smoking.
Montse García-Closas, professor at the ICR, said more research was needed, but “we cannot wait to act”.
She told a media briefing: “Our main conclusion is that although BMI is our best clue, much of the increase still remains unexplained, and we’ve done some additional analysis that show that most likely what’s missing is not just a single cause unexplained, but it’s likely a combination of multiple factors that act together.”
Amy Berrington, professor at the ICR, said: “Although rates have been increasing, cancer in young people is still a rare disease.”
Marc Gunter, professor at Imperial, said obesity was a known risk factor for around 19 different cancers.
He added: “For some of these cancers, including colorectal (bowel) cancer, we think this could be partly caused by higher levels of hormones such as insulin, which is often elevated in people with obesity, as well as inflammation.
“We know people with obesity have higher levels of insulin, and insulin is a growth factor and has been linked to cancer.
“In a recent study, we actually found that insulin in particular might be playing a role in early onset colorectal (bowel) cancer, and this is actually an area of very active research at the moment.”
The researchers called for large, long-term studies to identify all the biological and environmental factors that could explain rising cancer rates in young adults.
García-Closas added: “Tackling obesity across all ages, particularly in children and young people, through stronger public health policies and wider access to effective interventions, could slow the rise in cancer and prevent many cancers and must become a national priority.”
Michelle Mitchell, Cancer Research UK’s chief executive, said: “Globally, and in the UK, we’re seeing a small increase in cancer rates in adults under 50.
“The picture is complex and we need more research to understand what’s driving the trend, but this study helps to fill in some gaps.
“Overweight and obesity doesn’t explain the rise in full though. Improvements in detection are likely to also be playing a part, meaning that more people are being diagnosed at a younger age.
“Preventing cancer cases must be a priority for the UK government. Smoking remains a leading cause of cancer in adults under 50, which is why the Tobacco and Vapes Bill receiving royal assent this week is such a historic moment.
“Measures to restrict the advertising and promotion of junk food, introducing mandatory reporting and targets on healthy food sales, and making nutritious food more accessible to everyone would all help people keep a healthy weight.”
Diagnosis
WHO launches AI tool for reproductive health information

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”.
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