Pregnancy
Newborn screening by genome sequencing shown to be safe and effective
Two studies show the potential for genomic screening in newborns to address high rates of infant hospitalisation and mortality.
Presently, hundreds of genetic diseases are either preventable or treatable but currently are detected only after a child falls ill and endures a years-long “diagnostic odyssey,” often receiving diagnoses too late to achieve the best outcomes.
The first study described a novel platform with scalability and performance that will allow millions of babies to be screened and treated by genome sequencing and artificial intelligence within two weeks from birth.
Previously, medical genome sequencing was much too expensive for newborn screening. Plus, a high rate of false positive results – genome findings that falsely suggest a newborn to have a genetic disease – have been of great concern when genomes are examined without clinical context.
Previously, no method existed to translate genome results into treatment guidance in a way that most physicians could understand and put into practice.
The novel platform, BeginNGS (pronounced beginnings) solves this. It makes use of the latest genome sequencing technology to provide an affordable genome.
BeginNGS uses a combination of human and artificial intelligence tools to automate the complex process of interpreting disease risk based on genome information alone, which is critical for scaling to the 3.7 million babies born in the U.S. each year.
The study reported a 97 per cent reduction in false positives based on a method derived from human evolution. The genome variations that cause severe childhood diseases are subject to extreme natural selection called purifying hyperselection.
As a result, DNA variants that truly cause severe childhood disease are not found in genomes of elderly persons. By studying the genomes of almost half a million middle aged and elderly subjects, from the UK Biobank and Mexico City Prospective Study, researchers were able to discover those false positive DNA differences and reduce their occurrence to less than 1 in 50 subjects tested.
The computational methodology uses query federation, a method to analyse genomes remotely without data being moved or shared, which is enabled by TileDB, a database technology partner for BeginNGS.
Remarkably, after removing these DNA variants, BeginNGS retained greater than 99 percent sensitivity when compared with the gold standard method of rapid diagnostic genome sequencing.
BeginNGS used a custom-built clinical guidance system called Genome to Treatment (GTRx) to communicate a potential course of action for babies who screen positive. Many of these disorders are so rare the typical physician will rarely see them in practice.
GTRx provides practical guidance for physicians in a manner that is easy to understand. Testing of over 3,000 children with suspected genetic diseases revealed that 1 in 14 would have benefited from BeginNGS by receiving a time-to-diagnosis of 121 days earlier than compared with gold standard testing after those children developed symptoms.
In addition, testing revealed that BeginNGS would have benefited one in 13 babies who died in infancy.
“The future of newborn genetic screening lies in global collaboration and shared data resources,” says Stavros Papadopoulos, CEO and founder of TileDB.
“By connecting genetic information across international databases, we significantly enhance our ability to identify and understand rare diseases — an endeavour that transcends individual projects and geographical boundaries.
“Through TileDB’s expansion of the BeginNGS consortium and our federated query capabilities, we’re enabling more comprehensive analysis of variant datasets. For RCIGM and the families they serve, this translates directly into faster, more reliable answers during those critical early days of life.”
The second study evaluated whether BeginNGS was ready for broader expansion. In this trail, 120 babies in the neonatal intensive care unit at Rady Children’s Hospital – San Diego, received the BeginNGS screening.
Results were compared with traditional, federally mandated newborn screening and t\rapid diagnostic genome sequencing which evaluated all ~10,000 genetic diseases.
“The amazing, unexpected result of this BeginNGS trial was that nearly 30 percent of NICU babies who weren’t considered to need genome sequencing actually had genetic diseases — this is similar to the rate of diagnosis in babies who are suspected of having genetic diseases,” said Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine
“This suggests that the health benefits of rapid whole genome sequencing apply to every baby admitted to a Level IV NICU, not just those who are currently being tested.”
Only babies who were not suspected of having genetic diseases were eligible for enrolment in the clinical trial since the trial wished to mimic screening of healthy newborns.
BeginNGS genome-based newborn screening was shown to be safe and effective. One in 24 babies tested had positive results that were likely to impact their care.
BeginNGS had no false positives, showing that the purifying hyperselection methods indeed worked in the real world. Eighty four percent of parents in the trial reported that their child’s genomic sequencing results were useful, and 80 per cent felt that participation did their child a lot of good. When compared with state newborn screening, BeginNGS had a higher true positive rate and lower false positive rate.
“Genome-based newborn screening has the potential to transform health outcomes for children with certain rare diseases by accelerating their time to diagnosis and proper care,” said Tom DeFay, vice chair of BeginNGS and deputy head of diagnostics at Alexion, AstraZeneca Rare Disease.
“As a founding member of the BeginNGS Consortium, Alexion is encouraged by these Phase 2 results and remains committed to advancing health equity by helping improve diagnostics for families impacted by rare genetic and often life-threatening conditions.”
These studies pave the way for a much larger, multicentere clinical trial to formally compare BeginNGS with standard newborn screening.
That trial has started and to date is replicating the findings of the pilot study. In addition, now that computational methods exist for removal of false positives, BeginNGS is poised to expand from 412 severe childhood genetic diseases to the more than 2,000 disorders that have been suggested to be actionable early onset rare disorders for newborn screening.
Now that the feasibility of federated queries has been successfully demonstrated it will be possible to expand these to many genome biobanks worldwide to examine the incidence and prevalence of genetic diseases across the globe, allowing BeginNGS be tailored to screen each population.
More than half of women with gestational diabetes report stigma from healthcare staff, family, friends and wider society, new research shows.
A survey of 1,800 UK women found widespread emotional distress at diagnosis of the condition, a form of high blood sugar that develops during pregnancy, with effects lasting beyond birth.
Gestational diabetes affects around one in 20 pregnancies in the UK, and the findings highlight the wider toll on women diagnosed with the condition.
The study was funded by Diabetes UK and led by researchers at King’s College London and University College Cork.
Dr Elizabeth Robertson, director of research and clinical at Diabetes UK, said: “Stigma can have a dangerous and devastating impact on pregnant women diagnosed with gestational diabetes, particularly at a time when emotions and anxieties may already be heightened.
“We know that stigma can lead to shame, isolation and poorer mental health, and may discourage people from attending healthcare appointments, potentially increasing the risk of serious complications.
“This research highlights the urgent need for better support systems, based on understanding and empathy to ensure no one feels blamed or judged during their pregnancy.”
More than two-thirds of women, 68 per cent, reported anxiety at diagnosis, while 58 per cent felt upset and 48 per cent experienced fear.
The psychological impact continued beyond birth, with 61 per cent saying the condition negatively affected their feelings about future pregnancies.
Nearly half of women, 49 per cent, felt judged for having gestational diabetes, while 47 per cent felt judged because of their body size.
More than 80 per cent felt other people did not understand gestational diabetes, and more than a third, 36 per cent, concealed their diagnosis from others.
Gestational diabetes stigma was also common in healthcare settings, with 48 per cent reporting that professionals made assumptions about their diet and exercise, and more than half, 52 per cent, feeling judged based on their blood glucose results.
Many women described a loss of control and a sense of disruption during pregnancy.
Nearly two-thirds, 64 per cent, felt they were denied a normal pregnancy, while 76 per cent reported a lack of control over their pregnancy.
More than a third, 36 per cent, felt abandoned by healthcare services after giving birth, and one in four, 25 per cent, continued to experience depression or anxiety postpartum.
Focus group participants described harmful stereotypes, including assumptions that they were ‘lazy’, had ‘poor eating habits’ or ‘lacked willpower’.
Comments from family and friends included remarks such as “should you be eating that?” and “you must have eaten too much, that’s why you have gestational diabetes.”
The researchers are calling for targeted interventions alongside structured emotional support for women during and after pregnancies affected by gestational diabetes, to improve both mental and physical health outcomes.
Professor Angus Forbes, lead researcher from King’s College London, said: “Stigma and emotional distress are far more common in women diagnosed with gestational diabetes than many realise.
“Everyday interactions, even with those who mean well, can deepen this harm, shaping women’s emotional wellbeing and the choices they feel able to make.
“It’s clear that meaningful action is needed to protect women’s mental and physical health.”
Risk factors for gestational diabetes include living with overweight or obesity, having a family history of type 2 diabetes, and being from a South Asian, Black or African Caribbean or Middle Eastern background.
Article produced in association with London Pregnancy Clinic
One of the most common questions in early pregnancy: NIPT or the nuchal translucency (NT) scan – do I really need both? The 2026 evidence gives a clear answer.
The two tests look at different things, and doing them together is how first-trimester screening works at its best.
This is not a debate between old and new technology. NIPT is a genuine advance in detecting chromosome abnormalities from a maternal blood sample.
The NT scan is the first detailed look at how the fetus is forming. What each sees, the other largely cannot.
What NIPT actually tells you
NIPT – non-invasive prenatal testing – analyses fragments of fetal DNA circulating in the mother’s blood. Taken from around 10 weeks, the test measures chromosome proportions to flag the common trisomies: trisomy 21 (Down syndrome), trisomy 18 (Edwards) and trisomy 13 (Patau).
Most panels include fetal sex and sex-chromosome aneuploidies. Extended NIPT adds selected microdeletion syndromes – most commonly 22q11.2 (DiGeorge syndrome) – and the newest whole-genome platforms can detect copy-number variants down to around 1 Mb across every chromosome.
What NIPT does not look at is anatomy. It tells you whether the chromosomes are numerically correct.
It cannot tell you how the heart, brain, spine, kidneys or abdominal wall are forming, because it analyses DNA, not structure.
The NHS offers NIPT as a second-line screening test, reserved for women who receive a higher-chance result from the combined test – precisely because NIPT is best understood as one part of a wider screening picture rather than the whole of it.
What the NT scan actually tells you
The NT scan is an ultrasound performed at 11 to 14 weeks that measures the nuchal translucency – a small fluid-filled space at the back of the fetal neck.
Protocols developed by the Fetal Medicine Foundation, the group that pioneered first-trimester screening under Professor Kypros Nicolaides at King’s College Hospital, combine the NT measurement with additional markers: nasal bone, ductus venosus flow, tricuspid regurgitation, and maternal serum biomarkers (PAPP-A and free β-hCG).
More importantly, the scan is the first structural assessment of the fetus.
Major anomalies already visible at 11-14 weeks include absence of the cranial vault, large body-wall defects such as omphalocele and gastroschisis, megacystis, severe cardiac defects with abnormal four-chamber views, and skeletal dysplasias.
An increased NT measurement itself – even with a completely normal chromosome result – is associated with a notable rate of structural heart defects and monogenic syndromes that NIPT cannot detect.
Why the combination outperforms either test alone
Taken together, NIPT and the NT scan give complementary coverage.
For the common trisomies, NIPT is more sensitive than the NT scan alone. Pooled data place detection of trisomy 21 above 99 per cent with a false-positive rate around 0.1 per cent.
Combined first-trimester screening without NIPT, using NT and serum markers alone, reaches approximately 90 per cent detection – and up to 95 per cent when nasal bone, ductus venosus and tricuspid flow are added – at a 3 to 5 per cent false-positive rate.
For that specific endpoint, NIPT is the more accurate test.
The NT scan picks up almost everything NIPT misses: structural anomalies, early markers of monogenic syndromes, confirmation of viability, accurate dating, twin chorionicity, and placental position.
An increased NT with a normal NIPT result shifts the clinical conversation toward syndromes like Noonan, Kabuki and the skeletal dysplasias – conditions with single-gene origins rather than chromosomal ones.
Working out which is which often requires genetic testing beyond NIPT. Carrier screening and expanded genetic panels – including those offered at Jeen Health – cover the single-gene territory that NIPT does not address.
When the combination matters most
Several patient groups have most to gain from doing both:
- Women conceiving after IVF or with donor gametes, where maternal age and fertility treatment each subtly shift risk profiles
- Women aged 35 and over, where baseline chromosomal risk is higher and soft markers are more likely
- Anyone with a previous pregnancy affected by an anomaly or loss, where reassurance matters
- Twin pregnancies, where NIPT performance depends on fetal fraction and structural assessment is more complex
- Women who have had a raised or borderline result on earlier screening markers
Chromosomes and anatomy are two separate clinical questions. Each needs its own answer.
What happens if the tests disagree
Disagreements between NIPT and the NT scan are not failures of either test – they are the reason both are done.
- NIPT low-risk, NT raised: consider monogenic syndromes, structural cardiac assessment, and early anomaly ultrasound follow-up
- NIPT higher-chance, scan normal: confirmatory diagnostic testing (CVS or amniocentesis) before any major decision
- NIPT no-call: repeat sampling, gestational age check and clinical review – a no-call itself is associated with an increased chromosomal risk
- Both abnormal: a clear indication for specialist fetal medicine review and early diagnostic testing
Professional guidance from the RCOG supports this complementary approach, emphasising that NIPT is a screening rather than a diagnostic test, and that its results are most useful when interpreted alongside ultrasound findings.
Practical guidance for 2026
The most efficient way to run both tests is in a single appointment window, between 10 and 14 weeks, with the blood sample taken first and the scan performed on the same visit.
Results typically return within 5 to 10 working days for standard NIPT panels, and same-day for the scan itself.
This is the logic behind the SMART Test at London Pregnancy Clinic – extended NIPT paired with a full first-trimester ultrasound in a single appointment, delivering both chromosomal and structural information in one visit. For most patients, it removes the false choice of picking one over the other.
The wider picture
The question of NIPT versus NT scan has a settled clinical answer in 2026: the two tests examine different aspects of the pregnancy, and the most complete first-trimester assessment uses both.
For a pregnancy a woman wants to carry with the fullest possible picture, both tests belong in the first-trimester window. The question worth asking is which clinic offers them together, with the pre- and post-test care that makes the results usable.
If you are deciding on first-trimester screening, a consultation with a fetal medicine specialist is the most useful first step.
Disclaimer: This article is produced for informational purposes only and does not constitute medical advice, diagnosis or treatment. Clinical guidance referenced reflects published NHS, Fetal Medicine Foundation and RCOG standards as at April 2026. Individual circumstances vary; readers are advised to consult a qualified healthcare professional before acting on any information in this article. This piece was produced in association with London Pregnancy Clinic, which provided background clinical information for editorial purposes. Hyperlinks to external sources are included for reference only and do not represent an endorsement of any product, service or organisation.
The Royal College of Midwives (RCM) has referred to the women’s health strategy as a ‘missed opportunity’ to address maternity services.
The renewed strategy was released by the government this week, with the aim of putting women’s experiences at the centre of care and ensuring they are “better heard and served”.
However, the government stated that because of ongoing investigations into maternity services across the country, the strategy “does not seek to address safety in maternity and neonatal services”.
The RCM described this as a “missed opportunity” and urged the government to ensure that, following the inquiries, maternity is placed “at the very heart” of the strategy.
Gill Walton, RCM chief executive, said the college was “deeply disappointed” that maternity services “do not feature as a headline priority” in the renewed strategy.
She said: “This is a significant missed opportunity and one that is very difficult to understand.
“Pregnancy, birth and the postnatal period are not a footnote in women’s health – they are one of the most significant and consequential phases of a woman’s life.
“A strategy that treats maternity as an afterthought is not truly a women’s health strategy at all. It is exactly the kind of thinking that has allowed maternity services to reach the point they are at today.”
Walton acknowledged that the strategy contained commitments on ensuring women’s voices shape their care, on supporting families through pregnancy loss and on the principle that services should be held accountable when they fail to listen to women.
She added: “But a strategy that addresses one part of women’s health while leaving maternity care behind is only doing half the job.”
Walton urged the government to ensure that this is addressed when the ongoing investigations into maternity care conclude, with any recommendations placed “at the very heart of this strategy with the seriousness and urgency that women, families and midwives deserve”.
In the foreword to the renewed plans, health and social care secretary Wes Streeting referred to the ongoing independent National Maternity and Neonatal Investigation as action being taken by the government to improve safety in maternity services.
The strategy also refers to the new National Maternity and Neonatal Taskforce, chaired by Streeting, which aims to help deliver “safer, more equitable care” for women, babies and families.
The foreword said that, because of ongoing initiatives, it was “important that this work continues without restriction and that the government can properly respond to the findings”.
It added: “This renewed women’s health strategy therefore does not seek to address safety in maternity and neonatal services other than that related to women’s health before and during pregnancy and the actions we are taking immediately to improve maternity and neonatal care.”
The strategy does, however, include plans to prioritise health education in schools, communities and healthcare settings to “empower women” with the “knowledge and tools they need to help control their fertility” and “prepare for the best pregnancy outcomes.
It also promises to provide women with access to “safe and high-quality contraception, abortion care, fertility services, preconception care and support after pregnancy loss in convenient settings.
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