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

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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:

  1. 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.
  2. 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.
  3. 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.
  4. 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.

Diagnosis

Lung cancer drug shows breast cancer potential

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Ovarian cancer cells quickly activate survival responses after PARP inhibitor treatment, and a lung cancer drug could help block this, research suggests.

PARP inhibitors are a common treatment for ovarian cancer, particularly in tumours with faulty DNA repair. They stop cancer cells fixing DNA damage, which leads to cell death, but many tumours later stop responding.

Researchers identified a way cancer cells may survive PARP inhibitor treatment from the outset, pointing to a potential way to block that response. A Mayo Clinic team found ovarian cancer cells rapidly switch on a pro-survival programme after exposure to PARP inhibitors. A key driver is FRA1, a transcription factor (a protein that turns genes on and off) that helps cancer cells adapt and avoid death.

The team then tested whether brigatinib, a drug approved for certain lung cancers, could block this response and boost the effect of PARP inhibitors. Brigatinib was chosen because it inhibits multiple signalling pathways involved in cancer cell survival.

In laboratory studies, combining brigatinib with a PARP inhibitor was more effective than either treatment alone. Notably, the effect was seen in cancer cells but not normal cells, suggesting a more targeted approach.

Brigatinib also appeared to act in an unexpected way. Rather than working through the usual DNA repair routes, it shut down two signalling molecules, FAK and EPHA2, that aggressive ovarian cancer cells rely on. FAK and EPHA2 are proteins that relay survival signals inside cells. Blocking both at once weakened the cells’ ability to adapt and resist treatment, making them more vulnerable to PARP inhibitors.

Tumours with higher levels of FAK and EPHA2 responded better to the drug combination. Other data link high levels of these molecules to more aggressive disease, pointing to potential benefit in harder-to-treat cases.

Arun Kanakkanthara, an oncology investigator at Mayo Clinic and a senior author of the study, said: “This work shows that drug resistance does not always emerge slowly over time; cancer cells can activate survival programmes very early after treatment begins.”

John Weroha, a medical oncologist at Mayo Clinic and a senior author of the study, said: “From a clinical perspective, resistance remains one of the biggest challenges in treating ovarian cancer. By combining mechanistic insights from Dr Kanakkanthara’s laboratory with my clinical experience, this preclinical work supports the strategy of targeting resistance early, before it has a chance to take hold. This strategy could improve patient outcomes.”

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Insight

Higher nighttime temps linked to increased risk of autism diagnosis in children – study

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Nighttime temperatures during pregnancy may be linked to a higher chance of an autism diagnosis in children, a recent study suggests.

The research tracked nearly 295,000 mother-child pairs in Southern California from 2001 to 2014 and linked warmer overnight temperatures with higher risk in early and late pregnancy.

Children of mothers exposed to higher than typical nighttime temperatures during weeks one to 10 of pregnancy had a 15 per cent higher risk of an autism diagnosis.

Exposure during weeks 30 to 37 was linked to a 13 per cent higher risk.

 Lead author David Luglio, a post-doctoral fellow at Tulane University, said: “A key takeaway is that we identified specific windows when a mother and her developing child can be most affected by exposures to higher nighttime temperatures.

“This is critical and hopefully can help mothers prepare accordingly.”

The study is described as the first to examine how temperature may affect fetal neurodevelopment, the process by which a baby’s brain and nervous system form during pregnancy.

Extreme temperatures linked to increased risk were classified as above the 90th percentile, meaning 3.6°F hotter than average, and the 99th percentile, 5.6°F above average.

The association held even after researchers accounted for factors such as neighbourhood conditions, vegetation and fine-particle air pollution.

The study could not account for other factors such as access to air conditioning. Researchers did not find the same association with daytime temperatures, potentially because people spend more time away from home during the day.

“Heat waves are becoming more frequent, and people may only think of the dangers of daytime heat exposure,” said Mostafijur Rahman, assistant professor of environmental health sciences at Tulane University.

“These results indicate a strong association between high nighttime temperatures during pregnancy and autism risk in children and show that we need to think about exposure to heat around the clock.”

The study did not examine how higher temperatures at night might affect prenatal development, though Luglio said it is possible that warmer nights disrupt sleep for pregnant mothers.

Previous research has suggested insufficient sleep during pregnancy may be linked to a higher risk of neurocognitive delays in children.

“Extreme heat exposure during pregnancy has been linked to a range of adverse health outcomes, including prenatal neurodevelopment delays and complications with an embryo’s development of a central nervous system,” Luglio said.

“The goal of our study was to specifically explore the link between prenatal heat exposure and autism diagnoses for the first time.”

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Entrepreneur

Kindbody unveils next-gen fertility platform

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Kindbody has launched a fertility platform integrating AI with clinical care and patient support for employers and health plans.

The platform will enter a pilot with select Kindbody employer clients in 2026, covering over three million lives, ahead of wider availability in 2027.

Building on the company’s clinical model, the platform aims to improve outcomes and cost efficiency across family-building journeys. It connects Kindbody-owned clinics, partner clinics and an integrated clinical app.

The app offers virtual care across conception, pregnancy and reproductive health, extending through the menopause transition.

Launch features include updates in medication management, third-party reproduction, adoption, pregnancy, men’s health and global programme design.

David Stern, chief executive of Kindbody, said: “With our next-generation fertility platform, Kindbody is redefining what comprehensive, intelligent and affordable family-building care looks like for employers, health plans and patients.

“By unifying best-in-class clinical care, AI-driven intelligence and whole-person support, we are making it easier and more cost-effective for more people to build the families they envision.”

Kindbody has expanded access via its national network of IVF centres, including IVIRMA, Inception Fertility and Ivy Fertility.

A new Fertility Medication Portal is designed to streamline authorisations so medicines can be dispensed on time, giving patients visibility from prescription to coverage, pharmacy fulfilment and delivery tracking.

Through KindMan, men’s health education, digital resources and integrated clinical care are expanding, including hormone management programmes.

Services cover andropause (age-related testosterone decline), erectile dysfunction, low testosterone and other male reproductive conditions.

Specialist fertility care includes semen analysis, diagnostic testing, male hormone panels, genetic testing, surgical sperm extraction and sperm cryopreservation.

Launching in the second quarter, a pregnancy support app will act as a digital companion for expecting and new parents, with resources, interactive tools and clinical assessments to identify social drivers of health and mental health needs during pregnancy and beyond.

Kindbody’s physician-led menopause programme provides consultations with board-certified obstetricians and gynaecologists to diagnose, treat and manage menopausal symptoms, including hormone replacement therapy where appropriate, with support from nutritionists, mental health therapists and pelvic floor specialists.

AI and analytics will be embedded across the care journey. An AI care navigator will guide employees from benefit activation through intake, triage and scheduling.

Tools will track benefits and treatment plans, showing coverage and expected out-of-pocket costs at each step.

AI-supported scribing will assist clinicians with documentation, and a predictor tool will estimate a patient’s likelihood of having a baby across different treatment paths.

In 2027, Kindbody plans a savings model for eligible large employers that it says will guarantee lower total fertility spend while improving clinical efficiency and patient experience.

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