Pregnancy
Researchers zero in on genetic variant tied to miscarriages
Scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early miscarriages in women.
The discovery of the variant is linked to accelerated reproductive ageing, a condition producing high numbers of abnormal eggs that can lead to miscarriages.
The findings could alert women to the potential for early infertility and guide them in their approach to reproductive planning and fertility treatment, scientists said.
Karen Schindler is an author of the study and a professor in the Department of Genetics in the Rutgers School of Arts and Sciences.
Schindler said: “Knowledge of the precise genetic landscape that causes egg abnormalities in women has long been limited.
“This work represents a significant step forward in our understanding of the underlying genetics and provides the deepest validation yet of a candidate variant for causation.”
Reporting their results in the journal Proceedings of the National Academy of Sciences, the scientists pinpointed the variant – which differs from the non-mutated version by only a single amino acid – in the kinesin protein gene KIF18A.
This mutated protein, they found, speeds up the ageing process of eggs in younger women with the variant, ultimately diminishing their fertility.
Successful female reproduction, Schindler said, is highly dependent on creating eggs of good quality.
Miscarriages are often caused because women produce eggs with aneuploidy, an abnormal number of chromosomes.
The possibility of producing eggs with aneuploidy increases with age.
Because the eggs of the women with the variant age more rapidly than normal, they produce a higher number of eggs with aneuploidy.
This condition is known as “high embryonic aneuploidy.”
Rutgers Department of Genetics Professor Jinchuan Xing, an author on the study, led a team that started by conducting a comprehensive computational analysis of the genes of women with high embryonic aneuploidy.
To do so, team members accessed data maintained in a biobank at an in vitro fertilization clinic and sought patterns in maternal DNA sequences collected from patients.
The analysis showed that many of the women with abnormal eggs carried the mutation in the kinesin protein gene KIF18A.
Subsequent studies of mice engineered to contain the genetic variant, indicated that the mice produced more abnormal eggs at an earlier than normal age.
Leelabati Biswas is the study’s co-first author and a student in the university’s joint M.D.-Ph.D. program in the Department of Genetics and the Rutgers Robert Wood Johnson Medical School.
The researcher said: “From this, we can say that this is more than a correlation; it’s a causal relationship.
“The results gave us a powerful validation of our computational data.”
Biswas and Schindler believe the conclusions of the study are directing researchers toward further discovery.
They can imagine finding more variants associated with aneuploidy, providing more connections and, ultimately, deepening knowledge.
Biswas said: “This is a first step.
“We’re heading in a direction where we may be able to give women more opportunities for precision medicine, to better inform them, using targeted genetic information for reproductive treatments.”
A woman who wants to have children and knows she possesses this genetic variant that will produce age-related infertility prematurely may opt to have children earlier or freeze her eggs while she is younger, Schindler said.
“If you know your genetic risk, you will know your outcomes are going to be better if you start at age 28, rather than 32.
“That could make a huge difference in your success.”
Type 2 diabetes diagnoses are rising twice as fast in women under 40 as in women over 40, new data shows.
Type 2 diabetes is a serious condition and can lead to complications such as heart attacks and strokes. When it develops in younger people, it can be more aggressive and have more severe and acute effects.
Diagnoses in women under 40 rose by 47 per cent between 2017/18 and 2023/24. By comparison, diagnoses rose by 22 per cent in women aged 40 to 79.
During the same period, type 2 diabetes diagnoses in men under 40 increased by 34 per cent.
Diabetes UK said it is concerned about the follow-up care offered to women who have had gestational diabetes, also known as GDM, which increases the risk of developing type 2 diabetes after pregnancy.
Gestational diabetes is high blood sugar that develops during pregnancy and usually goes away after birth, but it raises the risk of type 2 diabetes later.
Colette Marshall, chief executive at Diabetes UK, said: “These figures should be a wake-up call. Type 2 diabetes is rising twice as fast in younger women compared to older women, and a crucial opportunity for prevention is being missed. Every diagnosis is life-changing, but when it develops in younger people, type 2 diabetes is even more aggressive.
“Pregnancy shouldn’t be a pathway to ill health. Yet despite facing a much higher risk of type 2 diabetes, too many women with GDM receive little or no follow-up care after pregnancy.
“As the Government turns its Strategy into action, support for women who have had gestational diabetes must not be overlooked.”
Last year, the NHS published the first national GDM audit for England in 2024/25, which revealed inconsistencies in follow-up care.
Only 57 per cent of women with GDM received an annual HbA1c test, which should be offered to every woman with GDM.
An HbA1c test measures average blood sugar levels over the previous two to three months.
Only 4.5 per cent of women had received support through the NHS Diabetes Prevention Programme.
The report also found that 11 per cent of women developed prediabetes within five years of having GDM, while 15 per cent developed type 2 diabetes within 10 years.
Prediabetes means blood sugar levels are higher than normal and a person has a higher risk of developing type 2 diabetes.
A recent survey funded by Diabetes UK also found that more than a third of women with GDM felt abandoned by healthcare services after giving birth.
If you live in England and have had gestational diabetes, you can self-refer to the NHS Diabetes Prevention Programme, which supports people at risk of developing type 2 diabetes. If you live in Northern Ireland, Scotland or Wales, you can speak to your GP about support.
Diabetes UK has written to women’s health minister Baroness Merron calling for urgent improvements to postnatal support for those diagnosed with GDM during pregnancy.
GDM affects between 10 and 20 per cent of pregnant women, but Diabetes UK said cases have long been underreported and UK-wide data on the condition has not been readily available.
The charity said poor follow-up care for women who have had GDM may be contributing to rising rates of type 2 diabetes in younger women.
It is calling for consistent postnatal follow-ups for women after GDM, more referrals to the NHS Diabetes Prevention Programme, greater accountability for improvements in postnatal care, and action on inequalities affecting women from deprived and minority ethnic communities.
System C has completed the national rollout of BadgerNet Maternity across all seven NHS Health Boards in Wales. This is the first time any UK nation has unified its maternity care under a single digital record and patient-facing app.
With approximately 26,000 babies born annually in Wales, BadgerNet connects maternity information across organisational boundaries in the country.
Expectant parents can access their records, maternity appointments and key updates digitally through a single app, wherever they receive care while clinicians have secure access to the right information at the point of care.
The national three-year agreement across all Heath Boards replaces a patchwork of separate local systems and eliminates the need for paper hand-held notes.
Anthony Tracey is director of digital at Hywel Dda University Health Board, the final of the Welsh Health Boards to go live with BadgerNet.
He said: “The rollout of BadgerNet across Wales is a vitally important step forward in modernising our maternity services and providing a consistent service across the country.
“By giving expectant parents direct access to their information and enabling clinicians to share data more effectively, we are strengthening safety, transparency and consistency in maternity care nationwide.”
For expectant parents, the single digital maternity record transforms how they engage with their care.
Instead of carrying paper notes and repeating information at every appointment, parents can access key details, appointments and updates digitally, supporting more informed conversations and shared decision-making.
The result is greater transparency, fewer administrative frustrations and a more joined-up experience throughout pregnancy and into the postnatal period, regardless of which health board they fall under.
For clinicians and Health Boards, the joined-up approach reduces duplication and streamlines handovers across teams and sites. Information is digitally captured once and made available securely wherever it is needed, helping to minimise errors, reduce time spent tracking down notes and support more efficient multidisciplinary working.
At a national level, linking maternity data across Wales creates a foundation for safer, more consistent care.
Aggregated, standardised information enables earlier identification of trends and variation, supports evidence-based policy decisions and enhances long-term service planning.
With a comprehensive view of maternity activity and outcomes across the country, Wales is now better positioned to raise standards for parents, babies and families.
Guy Lucchi, managing director of healthcare at System C, added: “Delivering a truly national approach across all seven Health Boards is a significant achievement for Wales.
“One shared system means information flows with the patient, not the organisation.
“That reduces duplication, supports earlier identification of risk and frees up valuable clinical time.
“Crucially, linking maternity data at a national level provides powerful insight to drive improvement. Health Boards can benchmark, plan services with greater confidence and ensure resources are targeted where they are needed most, while expectant parents benefit from clearer communication and a more connected experience of care.”
Early birth may cut serious complications and stillbirth risk in high blood pressure pregnancies without increasing caesarean rates, a Cochrane review suggests.
Planned early birth after 34 weeks cut serious maternal complications by nearly half compared with watchful waiting, the findings suggest.
It also likely reduced the risk of stillbirth by about 75 per cent, although the authors said this should be interpreted with caution.
Catherine Cluver, senior author of the review and researcher at Stellenbosch University and Tygerberg Hospital, said: “These findings give clinicians and women clearer guidance about the timing of birth when high blood pressure develops in pregnancy.
“For women with pre-eclampsia in particular, the evidence supports offering planned early birth from 34 weeks, and no later than 37 weeks.”
This Cochrane review, led by King’s College London, pooled data from six randomised controlled trials involving 3,491 women.
The trials compared planned early birth after 34 weeks with watchful waiting in women with one or more hypertensive disorders of pregnancy.
Hypertensive disorders of pregnancy, including pre-eclampsia, gestational hypertension and chronic hypertension, are the second leading cause of maternal death globally.
For women with pre-eclampsia, early birth remains the only definitive treatment, as the condition is driven by the placenta and will only resolve once it is delivered.
The trials took place in the Netherlands, UK, US, India and Zambia.
The review found high-certainty evidence that serious maternal complications were nearly halved in women who had planned early birth compared with those managed with watchful waiting.
The finding on stillbirth was based on moderate-certainty evidence and was driven by a single trial in India and Zambia, where stillbirth rates are higher. No stillbirths were recorded in the high-income country trials.
The review also found that planned early birth likely does not increase neonatal unit admission, although this finding was also based on moderate-certainty evidence.
The authors said the maternal benefit held across both high- and low-income settings, suggesting early birth reduces complications even when women are already receiving appropriate monitoring and care.
Alice Beardmore-Gray, lead author of the review and obstetrician at King’s College London, said: “Judging when to offer birth is the question that we battle with clinically every day.”
The authors added that in two of the trials, more than half the women allocated to watchful waiting ended up needing emergency birth before 37 weeks.
They typically gave birth just three to five days later than women allocated to planned early birth and often experienced more complications.
Beardmore-Gray said: “A common misconception is that by waiting longer, mum and baby are gaining more time, but often what you are doing is just delaying an inevitable emergency birth, when both may be in a worse condition.”
The review found high-certainty evidence of no increased risk of caesarean section associated with planned early birth.
Beardmore-Gray said: “That is the first question anyone asks when you offer them an early induction: won’t it increase my risk of a C-section?
“Being able to clearly answer no is a really important piece of information to give women when counselling them about the timing of their birth.”
The authors said the timing of birth should take into account the woman’s preferences and the severity of her condition.
They said these findings are consistent with and reinforce current international guidelines, which recommend that all women with pre-eclampsia should be offered planned early birth no later than 37 weeks.
Women with gestational hypertension or chronic hypertension without severe features may choose to continue with careful monitoring, with planned early birth considered from 39 weeks onwards.
Further research is needed on longer-term outcomes for infants born late preterm and on the long-term cardiovascular health of mothers affected by hypertensive disorders of pregnancy.
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