Fertility
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.
Entrepreneur
Kindbody unveils next-gen fertility platform
Fertility
Baby2Home app boosts new mothers’ mental health
First-time mothers using the Baby2Home app for a year after birth reported fewer symptoms of stress, depression and anxiety than those receiving usual postpartum care.
The study found women randomised to the app reported better overall health than first-time mothers who received usual care alone.
Baby2Home is a digital tool to help new families with newborn care and staying healthy.
It offers tailored educational content, infant care trackers and mental health self-management tools, plus access to a care manager for on-demand mental health and problem-solving support.
Emily S. Miller is principal investigator and division director of maternal-fetal medicine at Women & Infants Hospital of Rhode Island.
She said: “Evidence-based digital tools like Baby2Home are opening the door to a new era of postpartum care.
“We can now extend high-quality support beyond hospital walls and into families’ everyday lives. The mental health improvements we saw underscore just how transformational that support can be.”
Researchers from Women & Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Northwestern University’s Feinberg School of Medicine and Lurie Children’s Hospital of Chicago ran a multi-site randomised controlled trial between November 2022 and July 2025.
The trial enrolled 642 postpartum patients, all first-time parents. For 12 months after birth, all participants received usual postpartum care; half also used the Baby2Home smartphone app.
Participants reported progress electronically at five time points over the first year. Compared with the control group, those assigned to Baby2Home reported significantly fewer symptoms of stress, depression and anxiety.
They also reported better overall health, higher relationship satisfaction with partners and family members, and greater confidence in their parenting than the control group.
Miller said: “The first year after birth is a critical period for parental mental health. Baby2Home helped new parents feel more confident, more supported and more connected.
“That translated into better health outcomes for them and their families.”
Fertility
Most NHS regions in England limit IVF to single cycle, research finds
Nearly 70 per cent of NHS regions in England fund only one IVF cycle for women under 40, breaking national guidelines, new research has found.
Twenty-nine of the 42 integrated care boards, which control local NHS budgets, now offer only one round of treatment, after four reduced access in the past year.
National Institute for Health and Care Excellence (Nice) guidelines recommend three full cycles for women under 40 who have been unable to conceive for two years.
Only two of England’s 42 integrated care boards have policies consistent with these guidelines, which they are not legally obliged to follow.
The research was conducted by the Progress Educational Trust, a fertility charity.
Sarah Norcross, the director of PET, said the impact was “devastating” for couples struggling with infertility.
She said: “Infertility is already incredibly stressful for people, and it puts them under even more pressure, because there is so much riding on whether that one NHS-funded cycle is going to work.
“And for some people, that will be their only chance, because private fertility treatment is so expensive.”
The data showed regional variations, with the whole of the north-west offering just one cycle.
“It’s a postcode lottery, and we’re seeing a race to the bottom,” said Norcross.
Of the 29 integrated care boards that offer a single cycle, 19 provide only a partial cycle, where not all viable embryos created are transferred.
There was just one recent example of improved services, from NHS South East London, which in July 2024 went from one partial to two full cycles.
The NHS estimates that about one in seven couples may have difficulty achieving a pregnancy. One cycle of IVF can cost from £5,000 at a private clinic.
Fertility rates in England and Wales have fallen since 2010 to 1.41 children per woman in 2024, the lowest on record and below the replacement level of 2.1 at which a population is stable without immigration.
Health minister Karin Smyth said in a written parliamentary answer last month that it was “unacceptable” that access to NHS-funded fertility services varied across the country.
Revised Nice fertility guidelines are due this spring, but Norcross said changing them seemed pointless.
She said: “Fertility treatment has always been a Cinderella service. It’s always been the one they’ve chosen to cut or to ignore.
“Nice has recommended three full NHS-funded cycles, for women under 40, for more than 20 years. This has never been implemented across England, unlike in Scotland.”
Norcross advocated centralised commissioning and replicating Scotland’s approach, which included financial modelling and a phased implementation starting with two cycles to avoid long waits, moving up to three once capacity was achieved.
“It is a tried and tested plan that England could follow,” Norcross added.
A Department of Health and Social Care spokesperson said: “We recognise access to fertility treatment varies across the country and we are working with the NHS to improve consistency.
“Nice provides clear clinical guidelines, and we expect integrated care boards to commission treatment in line with these.
“Updated Nice fertility guidelines are expected this spring and we will continue to support NHS England to make sure the guidance is fully considered in local commissioning decisions.”
An NHS England spokesperson said: “These clinical services are commissioned by integrated care boards for their area based on the needs of the local population and prioritisation of resources available.
“All ICBs have a responsibility to ensure services are provided fairly and are accessible by different population groups.”
-
Insight2 weeks agoParents sue IVF clinic after delivering someone else’s baby
-
Insight3 weeks agoWomen’s health could unlock US$100bn by 2030
-
Insight4 weeks agoChina’s birth rate hits record low despite government fertility efforts
-
Menopause3 weeks agoHRT linked to greater weight loss on tirzepatide
-
Entrepreneur7 days agoUS startup builds wearable hormone tracker
-
Menopause3 weeks agoFlo Health and Mayo Clinic publish global perimenopause awareness study
-
Menopause2 weeks agoStudy reveals gap between perimenopause expectations and experience
-
Fertility6 days agoFrance urges 29-year-olds to start families now






