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Researchers develop new method for prenatal genetic testing
The test could offer the capacity to discover and interpret variants across the foetal exome from DNA circulating in the mother’s blood
A team of researchers have developed a non-invasive genetic test that can screen the blood of pregnant women to survey all genes for foetal DNA sequence variants.
The team of investigators from Massachusetts General Hospital (MGH), Brigham and Women’s Hospital (BWH) and the Broad Institute of MIT and Harvard evaluated the test by examining blood samples from 51 pregnant women and found the test was able to capture variants that were inherited from the mother as well as new variants that were not present in the mother and associated with prenatal diagnoses.
Results from their proof-of-principle analysis are published in the New England Journal of Medicine.
“Our study suggests that it is feasible to screen most genes across the foetal genome using a blood test rather than requiring an invasive procedure such as amniocentesis,” senior author Michael E. Talkowski, director of MGH’s Center for Genomic Medicine, an associate professor of neurology at Harvard Medical School (HMS) and Institute Member of the Broad Institute explained.
Non-invasive prenatal testing (NIPT), also known as prenatal-cell-free DNA-screening, allows pregnant women to receive a blood test that screens for very large changes in foetal chromosomes such as an extra copy of chromosome 21, known as Down syndrome (trisomy 21); the gain or loss of entire copies of other chromosomes; the presence and number of X and Y sex chromosomes (indicating the sex of the foetus), and, more recently, for a small number of variants that are relevant for some foetal conditions.
However, for many prenatal genetic diagnoses, it is necessary to determine individual nucleotide changes across the protein coding sequence of the genome, known as the ‘exome.’
Exome screening currently requires genetic testing with an invasive medical procedure such as amniocentesis that involves significant cost and carries some inherent risks to the mother and foetus.
The newly developed test could offer the capacity to discover and interpret variants across the foetal exome from DNA circulating in the mother’s blood. The method is referred to by the team as non-invasive foetal sequencing (NIFS).
This NIFS approach enabled the research team to survey the exome, discover sequence changes and distinguish potentially pathogenic variants from likely benign variants inherited from the mother.
Researchers tested their NIFS approach on 51 pregnancies that spanned all three trimesters and were representative of the pregnant population receiving care at Massachusetts General Hospital and Brigham and Women’s Hospital.
According to the study, the NIFS screening method used a maternal blood draw without the need for a separate genetic test on the mother or father. The research team found that the method was highly sensitive for discovering single-base DNA changes and small insertions and deletions that were present in the foetal genome but not in the maternal genome, irrespective of the amount of foetal DNA detected.
Harrison Brand, co-lead author and an investigator in the department of neurology at MGH and an assistant professor at HMS, said: “In our retrospective analysis, we were able to accurately discover and predict foetal sequence variants from the NIFS approach with >99 per cent sensitivity from the raw data and >90 per cent sensitivity after filtering using our analysis methods.”
In 14 pregnancies referred for the current standard-of-care genetic testing that were also evaluated with the NIFS approach, NIFS detected all of the clinically relevant variants that were reported from invasive testing in the same individuals.
The authors conducted this initial test on 51 pregnancies, but the findings, they say, suggest the test could potentially be done on many samples.
“The clinical implications of this research are potentially profound, particularly for pregnancies in which a foetal anomaly is suspected from ultrasound and an invasive test is indicated,” said co-senior author Kathryn Gray, an obstetrician and clinical geneticist at Brigham and Women’s Hospital and assistant professor of obstetrics and gynaecology at HMS at the time of the study.
Talkowski, the director of MGH’s Center for Genomic Medicine, added: “It has long been known that foetal sequence variants can be obtained from cell-free foetal DNA, and exome sequencing is already part of the standard-of-care, but it currently requires an invasive procedure.
“These results suggest that non-invasive sequencing can likely capture the same genetic information from the foetal exome that is already being obtained in the standard-of-care, but from a blood test alone without the invasive procedure.”
The team is currently working with other researchers to expand and validate these findings and to further develop the methods.
Co-lead author Christopher Whelan, a computational scientist at the Broad Institute, said: “Our benchmarking suggests there is more room for optimisation and that most variants currently captured in a standard exome test may be accessible to NIFS with further methods development.”
The team emphasised that this is not currently a clinical test and that these early studies will need to be replicated in much larger samples.
The Femtech World Awards is proud to reveal the shortlist for Research Project of the Year as part of the third annual global celebration of innovation, impact and leadership across women’s health.
From fertility science and perimenopause research to regional ecosystem analysis, the shortlisted projects reflect the breadth and growing influence of femtech research worldwide.
The category is sponsored by OncoGenomX, with the winner to be selected by a representative from the organisation.
OncoGenomX is dedicated to offering solutions and providing comprehensive support services that empower Drug Developers, Clinical Researchers, Oncologists,NextGenSeq Diagnostics Laboratories, NextGenSeq Service Organisations, Cancer Diagnostics and Therapeutics Companies to achieve their ambitious goals
The shortlisted entries for Research Project of the Year are:
Women’s health remains significantly underserved in South-East Asia, with persistent gaps in access, awareness, and quality of care carrying substantial social and economic costs.
This report examines the femtech landscape in Indonesia, the Philippines, Singapore, Thailand, and Vietnam, highlighting market trends, emerging technologies including artificial intelligence, and the evolving support ecosystem.
It identifies key challenges facing femtech founders, including limited access to finance, low awareness and persistent stigma, marketing constraints linked to content moderation, and gaps in tailored ecosystem support.
Led by Stephanie Willson, MD, of the IVI RMA Global Research Alliance, the study explored whether embryos that show certain chromosome abnormalities during genetic testing may still have the potential to result in a healthy pregnancy and live birth.
The research analysed more than 7,600 frozen embryo transfers and found that some embryos previously considered unlikely to succeed were still capable of leading to successful pregnancies, although at lower rates than embryos without abnormalities.
The findings could help fertility clinics and patients make more informed decisions during IVF treatment, particularly in cases where there are limited embryos available.
Rather than automatically discarding these embryos, the research supports a more evidence-based and personalised approach to fertility care.
For many women, perimenopause can feel confusing and unpredictable, with limited research explaining what is happening in their bodies.
Natural Cycles set out to change that by leading one of the largest studies ever conducted on menstrual and ovulatory patterns, uncovering new insights into how ovulation behaves as women approach menopause.
Conducted in collaboration with researchers from George Washington University, Seattle Clinical Research Center, Gennev and the University of California San Diego, the study analysed nearly one million menstrual cycles from more than 197,000 women aged 18–52 across more than 140 countries.
The scale of this dataset made it possible to explore menstrual patterns and ovulation in far greater detail than has traditionally been possible in women’s health research.
The Femtech World Awards celebrates the innovators, researchers and organisations driving meaningful progress in women’s health.
What happens next
Winners across all categories will be revealed during the virtual ceremony on June 19, with winners receiving a trophy and an interview with a Femtech World journalist.
Women over 40 are seeking raves for mental and physical wellbeing, with a study suggesting the benefits go beyond nightlife.
The findings challenge the idea that nightlife and electronic dance music events are mainly for younger people.
Published in Psychology of Music, the study focused on the common misconception that nightlife is only for younger audiences.
Researchers surveyed 136 female clubbers aged 40 to 65 about their experiences at electronic dance music events.
The study, carried out at the University of Leeds in England, found women reported mental and physical wellbeing benefits from attending these events.
Seeing favourite DJs was the most common motivation, but many women also described dancing as a way to relieve stress and find emotional support.
The research found that 65.9 per cent of participants described attending a rave as “spiritual”, while 62.9 per cent said it offered an escape from everyday life.
A further 58.3 per cent said they felt like a different version of themselves in a club environment.
Nine in ten participants said they felt at home at electronic dance music events, with many pointing to a shared passion for music and the sense of community around it.
The study also suggested physical fitness played a role, with some women saying they had made clubbing part of their regular exercise routine.
However, the findings also highlighted challenges for older women in nightlife spaces.
One fifth of participants said they felt visibly out of place because of their age.
Nearly half reported unwanted physical contact, leading some to seek out different venues or attend only with friends.
Osteoporosis may raise the risk of death in postmenopausal women by up to 47 per cent, a new study suggests.
The findings point to an inverse relationship between femoral bone mineral density and mortality risk, especially within certain ranges.
Femoral bone mineral density is the amount of mineral in the thigh bone, which is often measured to assess bone strength and osteoporosis risk.
Dr Monica Christmas is associate medical director for The Menopause Society.
She said: “Osteoporosis often remains a silent threat after menopause, despite its profound effect on women’s lives—from loss of height, poor balance, and reduced mobility to disfigurement, pain, and even premature death.
“Early screening and preventive measures, including a calcium-rich diet (preferably from food sources), regular weight-bearing exercise, and hormone therapy when appropriate, can significantly improve bone health and reduce risks not only of fractures but also cardiovascular disease, certain cancers, and dementia.
“It’s time we bring this conversation to the forefront.”
In the study involving nearly 3,000 postmenopausal women, bone mineral density at four femoral sites was assessed using dual-energy x-ray absorptiometry, a scan commonly used to measure bone strength and fracture risk.
The analysis found that mortality risk was significantly higher when femoral bone mineral density reached the osteoporotic threshold or when osteoporotic fractures were present.
After full adjustment, osteoporosis was associated with a 47 per cent increased risk of mortality.
A stronger inverse association between increased bone mineral density and mortality risk was seen within specific ranges, suggesting bone mineral density could serve as a prognostic marker of wider health.
The relationship appeared especially notable within the range of 0.46 to 0.71 g/cm² for total femur bone mineral density.
Previous research has shown that postmenopausal women face a significantly higher risk of death within one year of hip or vertebral fractures.
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