Pregnancy
Study puts forward nearly 300 genetic disorders that can be treated during pregnancy
Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This “treatable foetal findings list” could improve the diagnosis of genetic conditions in pregnancy and enhance the treatment options available for foetuses who have these conditions.
Over the past decade, genomic sequencing has become a vital tool to help inform prenatal diagnoses. Genomic sequencing tests, combined with family history, can help identify genes responsible for ultrasound abnormalities.
They can also uncover incidental findings that may predispose a foetus or newborn to serious but treatable conditions, such as a heart condition that can be treated with medications or a gastrointestinal disorder that can be managed with fluid and electrolyte therapies.
The research team set out to develop a list of these treatable conditions so that patients can be offered the choice of receiving this kind of information.
Through a literature review, the authors identified a total of 296 genetic conditions, ranging from disorders with emerging foetal therapies to those where immediate postnatal treatment can prevent irreversible harm. The authors emphasise that timely detection of these conditions could reduce morbidity and mortality, offering families unprecedented opportunities for early intervention.
“We saw a critical gap in prenatal care and an opportunity to define the genetic disorders that are treatable during this time,” said senior author Nina Gold, director of Prenatal Medical Genetics at Massachusetts General Hospital, a founding member of the Mass General Brigham healthcare system.
“These conditions are actionable – meaning that, empowered with diagnostic information, we can intervene early and improve outcomes.”
“One of our goals is to expand the options that a family has during pregnancy,” said Jennifer Cohen, lead author on the study and a medical geneticist at Duke University Hospital, said.
“These lists of genes are meant to provide the possibility of early intervention, which in some cases may change the natural history of the disease.”
Despite its potential, this initiative comes with challenges. The researchers outline ethical considerations and acknowledge that patients may feel overwhelmed by the amount of information they are offered. They also highlight the importance of engaging medical geneticists, obstetricians, and ethicists to address these complexities.
“Our goal in creating this targeted list of treatable foetal findings is to improve care, but we are sensitive to the challenges for physicians, genetic counsellors, and patients when it comes to navigating new health information during pregnancy or immediately after the birth of a child. This is why it’s so important to work as a care team to empower our patients and provide them with the clearest information possible,” said Gold.
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.
A recent study developed a new “digital companion” to support the prevention and follow-up of maternal cardiovascular risk in women with pregnancy complications.
Cardiovascular disease, or CVD, is the leading cause of premature death and illness in women, yet sex-specific causes remain understudied and women are underrepresented in research.
Pregnancy complications, including hypertensive disorders of pregnancy, or HDP, and gestational diabetes mellitus, or GDM, are strong predictors of future CVD, with pregnancy itself acting as a natural stress test.
Despite CVD accounting for 35 per cent of female deaths worldwide in 2019, systematic postpartum prevention remains limited in practice and incidence continues to rise.
Myocardial infarction, commonly known as heart attack, and stroke are the main fatal CVD events in women. Up to one-third of women develop hypertension within a decade after HDP, especially as maternal age rises.
Obstetric guidelines have historically lacked clarity on early CVD prevention after HDP and GDM, often relying on expert consensus rather than evidence.
Some cardiology guidelines now recommend personalised approaches, such as periodic hypertension and diabetes screening. Norwegian guidelines recommend cardiovascular risk evaluation at three months and one year postpartum, but adherence in practice is uncertain.
Effective risk reduction requires intervention before middle age. The immediate postpartum period following HDP or GDM is a critical window for early detection and intervention, offering an opportunity to engage women in cardiovascular health management, particularly as pregnancy can encourage long-term lifestyle awareness.
Electronic health, or eHealth, refers to the use of digital technologies and electronic communication tools to support healthcare services, medical information management and related health activities.
Systematic, eHealth-supported postpartum prevention can improve maternal health literacy and long-term cardiovascular outcomes.
However, there is a significant gap in targeted, eHealth-based postpartum interventions for cardiovascular risk management after HDP and GDM, despite strong patient demand and international calls for coordinated digital health strategies.
Home blood pressure monitoring shows promise, but broader digital support remains limited.
A cardiovascular postpartum follow-up programme was created as a mobile app based on Norwegian and international guidelines.
The MumCare app was developed through co-creation involving users, stakeholders and clinical experts. Five qualitative interviews and 10 user testing sessions informed improvements.
This study primarily analysed the iterative co-creation process used to develop the app, rather than evaluating clinical outcomes.
The MumCare project team in Oslo included an IT expert, obstetricians, a midwife, a GP, two sociologists and two cardiologists, all with relevant experience in eHealth and women’s health. A medical student with technological and medical expertise also helped turn ideas into app features for young women.
User representatives from two national patient associations contributed to information, recruitment, design and testing of the MumCare app.
Both associations provided user perspectives and took part in interviews and app testing. Additional users with HDP or GDM at Oslo University Hospital were also involved throughout the co-creation process.
The app’s digital infrastructure prioritises security and privacy, using encryption, de-identification and two-factor authentication.
User data is stored securely on the app and, for research purposes and with consent, on a dedicated University of Oslo server in line with GDPR and Norwegian regulations.
A linear Stage-Gate model structured the co-creation process, dividing it into phases with quality checkpoints reviewed in project meetings.
This approach balanced internal development with external user feedback, helping ensure the app is evidence-based, technically robust and user-centred.
The MumCare app guides postpartum women through tracking blood pressure, weight, physical activity and lab results, and provides personalised feedback to support self-management, mainly during the first postpartum year.
It also includes educational resources such as videos and guideline-based information to support understanding and engagement.
The app is also designed to support the transition from specialist pregnancy care to long-term follow-up with general practitioners.
It is described as a “digital companion” or health coach and does not replace clinical diagnosis or function as a medical device.
The co-creation process followed four phases focused on technical and procedural development.
In phase 1, input from expert organisations and user representatives established the app’s technical foundation.
It also reminds users of the one-year postpartum follow-up with their GP, a key time to assess risk factors and future care needs.
User organisation representatives gave feedback in phase 1, directly guiding content and feature development.
Phase 2 interviews confirmed that users want to monitor cardiovascular risk factors after HDP and GDM.
The analysis highlighted three themes: self-care strategies and uncertainties about hypertension, the need for accessible health information, and a more personalised approach to blood pressure monitoring in the app.
Concerns were also raised that frequent monitoring or app use could increase stress or create a sense of burden.
In phase 3, the app’s design and features were revised in response to feedback to improve usability and make sure they met users’ needs.
These changes led to a more intuitive and supportive interface for women during and after pregnancy.
Phase 4 involved building a prototype based on the updated designs, followed by further refinements after testing by the project team and users. Initial pilot testing with a small number of users suggested the app met its objectives and functioned as intended.
The MumCare app was co-created with input from experts, user organisations and patients over four phases.
Early expert and organisational contributions helped define the app’s goals, while ongoing feedback from patients helped ensure the design and content reflected users’ real needs.
This collaborative approach resulted in an app tailored to support women with pregnancy complications.
The MumCare app is currently being evaluated in a randomised controlled clinical trial that began in June 2024, with results needed to determine whether it improves long-term cardiovascular outcomes.
The first patients have been dosed in a UK miscarriage trial testing a new intravaginal drug delivery platform for threatened miscarriage.
The FREEDOM study is evaluating 400mg progesterone Callavid in patients diagnosed with luteal phase insufficiency, a condition in which progesterone levels may be too low to support early pregnancy, increasing the risk of infertility and recurrent miscarriage.
Callavid uses a patented leak-free, tampon-like design intended to address the limitations of current vaginal treatments, which rely on self-administered pessaries, or vaginal suppositories, that can leak and may move during use.
The device is being developed by London-based Calla Lily Clinical Care, a medical technology company focused on women’s health. The trial is funded by the National Institute for Health and Care Research and run in collaboration with the Trial Management Unit at University Hospitals Coventry and Warwickshire NHS Trust.
According to the company, Callavid is positioned to become the world’s first drug-device combination product to support treatment of threatened miscarriage, as well as luteal phase support as part of assisted reproductive technologies, including in vitro fertilisation, or IVF.
The Government’s Renewed Women’s Health Strategy for England cites estimates ranging from 120,000 to 250,000 cases of miscarriage a year in the UK. Administering 400mg micronised progesterone twice daily is recommended by the National Institute for Health and Care Excellence for women who have suffered a previous miscarriage and experience bleeding during early pregnancy, known clinically as threatened miscarriage.
Current pessary delivery methods can result in uncertain placement and movement during use. These limitations can reduce the efficiency and consistency of drug absorption, potentially compromising delivery of the intended dose, and patients are regularly advised to lie horizontal for extended periods after each administration.
The FREEDOM trial is led by professor Siobhan Quenby MBE, an authority on miscarriage and preterm birth, and an honorary consultant at University Hospitals Coventry and Warwickshire NHS Trust. The study aims to evaluate safety, user acceptability and progesterone absorption, with the goal of providing evidence of improved usability in self-administration.
Quenby commented: “Through my clinical practice, I see the difficulties patients face with existing vaginal progesterone products at an already very stressful time. Callavid offers a promising new solution to ensure delivery of the correct progesterone dosage and give women greater confidence in their treatment. There is genuine excitement among both clinicians and patients at the prospect of Callavid progressing into clinical trials.”
Dr Lara Zibners, co-founder and chair of Calla Lily Clinical Care, added: “As a physician and entrepreneur, I believe we have a responsibility to create more effective, patient-centred solutions in women’s health. Having been through seven rounds of IVF myself, I have experienced how difficult progesterone treatment can be, and I am proud to be advancing an innovation shaped by both medical insight and lived experience.”
Thang Vo-Ta, co-founder and chief executive of Calla Lily Clinical Care, said: “Dosing the first patients in the FREEDOM study marks a critical milestone for Calla Lily Clinical Care. Callavid represents a differentiated delivery modality for a broad range of therapeutics in the pharma pipeline, and will create new opportunities to extend the lifecycle of existing drugs. This trial is a key step in demonstrating Callavid’s massive potential.”
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