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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.


Labcorp launches screening test to identify preeclampsia risk sooner

The new screening tool is capable of assessing the risk of preeclampsia sooner, the test maker says



Labcorp has launched a screening test that can assess the risk of preeclampsia before 34 weeks of pregnancy.

Preeclampsia is a high blood pressure disorder that can develop during pregnancy or postpartum and is a leading cause of maternal morbidity and mortality worldwide.

Roughly one in 25 pregnancies in the US is affected by preeclampsia, which poses an even greater risk for non-Hispanic black women, who experience the condition at a 60 per cent higher rate compared to white women.

In January, Labcorp announced the launch and availability of an FDA-cleared blood test for risk assessment and clinical management of severe preeclampsia during the second and third trimesters.

The first trimester test uses four early pregnancy biomarkers to provide a risk assessment with up to 90 per cent sensitivity, nearly twice the sensitivity of assessing typical maternal history or biophysical factors alone.

According to Labcorp, the test results provide risk identification earlier than traditional symptoms, such as hypertension or protein in the urine, which tend to develop around 20 weeks gestation.

Eleni Tsigas, chief executive officer of the Preeclampsia Foundation, said: “Our organisation celebrates this innovative new test offering.

“Research shows that patients and providers want access to more tools that better predict progression to preeclampsia, especially for those patients with low- to average-risk or those with first-time pregnancies for whom there is some uncertainty.”

Dr Brian Caveney, chief medical and scientific officer at Labcorp, added: “Labcorp is committed to advancing maternal and foetal health through innovative diagnostic and screening solutions.

“This new first trimester blood test is another significant milestone in our mission to improve health and improve lives. By giving healthcare providers another tool to assess preeclampsia risk in their pregnant patients with objective biomarkers, we’re helping to advance prenatal care and improve outcomes for mothers and their babies.”

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People with HIV can be sperm and egg donors

A change in law will allow people with non-transmissible HIV in the UK to donate gametes to partners



Same-sex couples with non-transmissible HIV will now be able to donate eggs or sperm and become parents.

People with HIV will able to donate their sperm or eggs to their partners, as the law in the UK is updated.

The Human Fertilisation and Embryology Act will be amended via a statutory instrument to allow people with non-transmissible HIV – with a viral load low enough not to pass on – to donate eggs or sperm, known as gametes, as part of fertility treatment to their partners.

Under current rules on IVF, only a male partner with HIV can give their sperm to their female partner and not to anyone else.

The law change will also eliminate extra screening costs for female same-sex couples undertaking reciprocal IVF treatment.

The government says this is part of wider work to improve access to IVF for everyone and ensure same-sex couples have the same rights as a man and woman when trying to conceive.

“These changes will allow more people to fulfil their dream of becoming parents,” said UK health minister, Maria Caulfield.

“We have changed the law to ensure equality for people living with HIV when accessing IVF, allowing them to donate their eggs and sperm.

“In addition, the change will allow female same-sex couples to access IVF with no extra screening costs, the same as heterosexual couples.”

She added: “These changes will help create a fairer system by removing barriers to accessing fertility care as we have set out in the Women’s Health Strategy.”

The changes to the law will allow people with HIV to donate their gametes to family, friends and known recipients.

The regulations include an updated definition of partner donation to enable female same-sex couples wishing to donate eggs to each other to undergo the same testing requirements as heterosexual couples.

Under current rules, female same-sex couples hoping to conceive via reciprocal IVF must first go through screening for syphilis and genetic screening, such as cystic fibrosis, which can cost over £1,000, while heterosexual couples do not need to undergo this screening.

Julia Chain, chair of the Human Fertilisation and Embryology Authority (HFEA), said: “The HFEA welcomes the news that legislation regarding partner donation in relation to reciprocal IVF, and gamete donation from those who have HIV with an undetectable viral load, has now been proposed in Parliament.

“Fertility treatment is helping more people than ever to create their family, and everyone undergoing fertility treatment should be treated fairly.

“For known donation from individuals with undetectable HIV, we anticipate that the first clinics may be able to begin to offer this treatment around 3 months following a change in the law.

“We encourage any patients or donors who may be affected by these changes to visit the HFEA website to find out free and impartial information, including about how to choose a fertility clinic.”

Minister for equalities, Stuart Andrew MP, added: “Treatment for HIV has improved significantly, saving countless lives, but the stigma surrounding it persists – a stigma which often prevents people from getting tested and seeking treatment.

“These changes will help to reduce that stigma, making it clear that people with HIV can live full and happy lives. I am delighted by these changes which will enable more people to experience the joy of becoming parents.”

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Portfolia invests total of US$65m into women’s health companies

The platform has invested in 47 femtech start-ups to date



Trish Costello, founder and CEO of Portfolia

The US venture investing platform Portfolia has announced it has invested a total of US$65m into women’s health companies and solutions.

Portfolia aims to create, educate and support the largest community of women investors in the world.

The company says it was amongst the first to recognise the “immense” potential of women’s wealth, with women’s health at the forefront.

To date, Portfolia has made investments in 112 companies with 47 of those women’s health companies being femtech and active aging specific.

Some of these include Madison Reed, Maven, Everly Health, Bone Health, Veana, Your Choice, Future Family, Willow, Hey Jane, Lighthouse Pharma, L-Nutra and JoyLux.

The total companies Portfolia has invested in are estimated to serve over 102 million customers in 115 countries worldwide.

These companies have a combined value of over US$17bn, with over US$1bn in revenue and 10,000 employees worldwide.

According to Portfolia, almost 70 per cent of these businesses are led by female CEOs, and 49 per cent are led by BIPOC individuals.

“At Portfolia, we believe in the power of activating our wealth for returns and impact,” said Trish Costello, founder and CEO of Portfolia.

“Today, women in the United States have unprecedented access to wealth – with over US$25tn of wealth in the US and almost 50 per cent of it owned by women.

“This wealth is power – power to create financial change and invest in the companies and businesses that matter to us and meet our needs/desires.”

She added: “Our commitment goes beyond traditional venture capital – we’re pioneering change, saving lives, and creating opportunities for all, while creating the most powerful community of women investors globally, and the first to activate our wealth to shape the future of healthcare.”

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