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.”
Pregnancy
Pregnancy complications may increase risk for artery disease, study finds

Pregnancy complications may increase women’s risk of peripheral artery disease later in life, new research suggests.
The study analysed data from more than two million women in Sweden who gave birth to single babies between 1973 and 2015.
Led by Casey Crump, the research examined the long-term risk of peripheral artery disease among women who experienced preterm delivery, pre-eclampsia, gestational diabetes or other adverse pregnancy outcomes.
Crump, professor in the department of family and community medicine at McGovern Medical School at UTHealth Houston, said: “Our prior work has already shown that adverse pregnancy outcomes are associated with long-term risks of heart disease, stroke, and heart failure.
“This study builds on that work by showing that these women have an increased risk of peripheral artery disease, an important but understudied cardiovascular condition.”
Peripheral artery disease is often a precursor to long-term cardiovascular complications, including stroke, ischaemic heart disease and premature death.
The condition affects millions of people worldwide and occurs when narrowed arteries reduce blood flow, most commonly to the legs and feet.
Ischaemic heart disease occurs when the heart does not receive enough blood and oxygen, usually because the arteries have narrowed.
Symptoms of peripheral artery disease can include leg pain, cramps while walking, numbness, cold feet and sores on the feet or legs that are slow to heal.
Crump said women who experience pregnancy complications have an important opportunity after giving birth to make plans with their primary care doctor to monitor long-term risks.
Women who have experienced complicated pregnancies should speak with their doctor about possible future cardiovascular health risks.
Checks for blood pressure, diabetes and cholesterol are important.
While the period after childbirth is an important time for women to monitor their health, Crump said it is never too late to lower the risk of peripheral artery disease.
He said: “Women with a history of adverse pregnancy outcomes who seem to be doing well may still have a higher risk that can emerge later in life.”
Crump also suggested preventive steps such as avoiding smoking, maintaining a healthy weight and following a healthy lifestyle.
He stressed the importance of long-term follow-up care and conversations with healthcare providers to help protect cardiovascular health later in life.
Insight
New pregnancy treatment shows promise for at-risk twins

A high-powered ultrasound treatment could help identical twins affected by a rare and serious condition during early pregnancy, an initial study suggests.
Twin-to-twin transfusion syndrome, or TTTS, causes uneven blood flow between identical twins who share a placenta.
The imbalance can leave one baby dangerously small and the other too large, putting both babies’ survival at risk.
Brioney Garrett’s daughters were in danger before doctors used the world-first treatment to seal the blood vessels causing the problem without an operation.
Nancy and Margo were born healthy and, now aged four, are due to start school.
Researchers from Queen Charlotte’s and Chelsea Hospital tested the non-invasive procedure in 10 women from the UK and elsewhere in Europe after scans detected TTTS during early pregnancy.
Five women needed further treatment, while 12 of the 20 babies survived following the procedure.
The researchers described having a treatment that did not require a needle or telescope to be inserted into the mother’s abdomen as “extremely exciting”.
However, they said larger studies involving more pregnant women were needed before the procedure could be offered more widely.
Garrett described her daughters as “my miracle twins”.
She said: “We were in a very dire situation and I don’t forget that.
“It stays with me always how things could have been. Every day I still count my blessings.”
TTTS affects between 10 and 15 per cent of identical twins who share a placenta, representing around 300 to 400 pregnancies in the UK each year.
The uneven blood flow causes excess fluid to build up around the larger recipient baby, while leaving dangerously little fluid around the smaller donor baby.
Treatment usually involves inserting a needle into the womb to drain some of the fluid or using a laser to seal the connecting blood vessels.
Garrett’s procedure took about 20 minutes. She lay flat while a specially designed machine directed high-powered ultrasound waves at small blood vessels in her placenta.
She said: “It was very quick and pretty painless.”
Christoph Lees, head of fetal medicine at Imperial College Healthcare NHS Trust and professor of obstetrics at Imperial College London, described the research as “very promising”.
He said: “If this could work in a fully-fledged study, it could give hope to a lot of women who otherwise might have to have quite invasive treatment.”
Ultrasound is commonly used during medical scans to produce images of the body, but this procedure uses much more focused waves.
Heat generated by the waves can seal blood vessels about 2mm in diameter and located around 5cm to 6cm beneath the skin.
The procedure blocked blood flow in 90 per cent of the vessels treated during the study, with no unwanted side-effects reported.
Twins Trust, which supported the study, said the approach could make a significant difference for families affected by TTTS.
Helen Peck, head of healthcare engagement and research, said: “Any procedure that is non-invasive and can potentially identify TTTS earlier and improve outcomes for our families with this life-threatening condition could be a turning point.”
Scans carried out weeks after Garrett’s procedure showed that blood flow between the babies had been rebalanced, although other problems developed during the pregnancy.
Garrett said Margo, who had too little fluid around her, “was in a much better position” and that “the strain on Nancy’s heart had eased”.
Nancy and Margo were born at nearly 34 weeks, weighing 3lb 7oz and 3lb 3oz respectively.
Garrett said: “They were both healthy, and Margo wasn’t as small as we worried she was going to be.”
The twins are due to start primary school in September.
Garrett said: “They’re funny, smart, energetic little girls that just fit right in with their age group.”
Pregnancy
New reporting tool targets maternal-fetal teams as pregnancy complexity rises

A new reporting tool built specifically for obstetrics and maternal-fetal medicine has launched, aimed at teams managing increasingly complex pregnancies with limited time and resources.
Trice Imaging has released Trice Workspace Reporting, which connects imaging, reporting and longitudinal patient data in a single workflow to support faster clinical decision making.
Birth rates are falling worldwide, but pregnancies are getting more complicated. Advanced maternal age, IVF-assisted pregnancies, rising obesity rates and a higher prevalence of hypertension and diabetes mean more cases now require specialist monitoring, advanced imaging and multidisciplinary care.
At the same time, clinical teams are stretched and facing growing administrative demands.
Trice Workspace Reporting brings together customisable reporting, dynamic pregnancy dating and longitudinal patient history with an AI-ready, EHR-interoperable infrastructure, all inside the company’s Tricefy image management platform.
The company says it aims to accelerate standardised and synchronised report turnaround, support timely clinical decisions and improve operational efficiency for fetal medicine services.
“Maternal fetal medicine teams are managing increasingly complex pregnancies while being asked to do more with limited time and resources,” said Mark A. Samii, chief revenue officer at Trice Imaging.
“Trice Workspace Reporting is designed to remove unnecessary friction from reporting by creating a structured digital foundation that supports today’s need for connected clinical workflows.
“It also provides a digital foundation as practices prepare for tomorrow and the evolution of AI-enabled fetal assessment, anomaly detection and outcome prediction technologies.”
Trice Imaging describes its mission as transforming the women’s health journey by connecting physicians, patients and healthcare systems. From independent practices to large hospital ecosystems, it aims to reach the entire women’s health continuum, spanning IVF and reproductive health, maternal-fetal medicine and OB/GYN, and onwards to lifelong women’s health.
For more than 17 years the firm has worked on cloud-based storage, retrieval, display, organisation and exchange of ultrasound medical images and associated information across health environments.
Its wider platform now extends to dynamic clinical reporting, AI-driven workflow optimisation, data analytics and secure patient engagement.
Trice Imaging holds regulatory and data protection clearances in 40 countries. It has offices in Miami and Stockholm, alongside a growing network of global distributors.
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