Trisomy 18 Syndrome

Recognized for discovery of cell-free fetal DNA in maternal blood and creation of noninvasive prenatal testing (NIPT), used by as many as 50% of pregnant women in the US to screen for genetic conditions like Down syndrome ARLINGTON, Va., Dec. 17, 2024 /PRNewswire/ -- March of Dimes, the leading organization fighting for the health of moms and babies, is proud to recognize Dr. Dennis Lo, PhD, as the recipient of the 2025 March of Dimes Richard B. Johnston, Jr., MD Prize. This prestigious award is presented annually to an outstanding scientist who has made exceptional contributions to advancing our understanding of pregnancy, birth, and prenatal development. Dr. Lo, a resident of Hong Kong, serves as the vice chancellor and president of the Chinese University of Hong Kong, where he is also a professor of medicine and chemical pathology, and director of the Li Ka Shing Institute of Health Sciences. Known as the 'father of noninvasive prenatal testing,' Dr. Lo is an internationally renowned scientist whose 1997 discovery of fetal DNA in maternal blood, known as cell-free fetal DNA, set the stage for his invention of noninvasive prenatal testing (NIPT), a blood test that can safely and accurately screen babies in the womb for Down syndrome, or Trisomy 21, which results from an extra copy of chromosome 21. "It is simply impossible to overstate the impact Dr. Lo's pair of discoveries have had on the health of moms and babies over the last fifteen years," said Dr. Emre Seli, Chief Scientific Advisor at March of Dimes. "His work has dramatically reduced the risks associated with invasive screening methods, contributed to early detection of chromosomal abnormalities, and even led to the recognition of maternal cancer. The impact his revolutionary work has had on improving maternal and infant health outcomes has been tremendous." This award, established in honor of Dr. Johnston, Professor Emeritus of Pediatrics at the University of Colorado and former Medical Director at March of Dimes, includes a cash prize and was created as a tribute to Dr. Jonas Salk, the pioneer behind the polio vaccine. It aligns with March of Dimes' research strategy to tackle the complex challenges surrounding the maternal and infant health crisis. To date, eight recipients have gone on to win the Nobel Prize in Physiology or Medicine. Since the introduction of NIPT in 2011, the test has become a standard of care across the US, with as many as half of all pregnant women taking it routinely at the end of their first trimester to screen for chromosomal imbalances and reveal the sex of their child. Dr. Lo's initial discovery has led to a rapid expansion of the conditions covered in the test, which now include chromosomal imbalances like Trisomy 18, known as Edwards syndrome, Trisomy 13, known as Patau syndrome, and Monosomy X, known as Turner syndrome. In addition, NIPT tests can also screen for much rarer imbalances, chromosomal micro-deletions, sex chromosome disorders, and single gene disorders like cystic fibrosis or sickle cell disease. Crucially, in recent years, the test has attracted attention for the detection of maternal cancer and paved the way for scientists working with pregnant women to use cell-free RNA to uncover information about the fetus, the placenta, and the mom to predict gestational age and risk of preterm birth and preeclampsia. "I'm honored to receive this award from March of Dimes, an organization that shares my values of translational research to propel health forward," said Dr. Lo. "Watching prenatal testing become the standard of care for expectant mothers throughout the world has been the privilege of a lifetime." March of Dimes will present the award to Dr. Lo at the 2025 Annual Meeting of the Society for Reproductive Investigation in Charlotte, North Carolina, on March 29, 2025. Dr. Lo received his Bachelor of Arts degree from University of Cambridge and his medical and philosophy degrees from University of Oxford. Learn more information about the March of Dimes Prize. About March of Dimes March of Dimes leads the fight for the health of all moms and babies. We support research, lead programs, and provide education and advocacy so that every family can have the best possible start. Since 1938, we've built a successful legacy to support every pregnant person and every family. Visit marchofdimes.org or nacersano.org for more information. Follow us on social at @marchofdimes. SOURCE March of Dimes Inc. WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

The news that your child has a health issue is unwelcome news to any parent, but the diagnosis of a rare disease brings a unique, complex set of challenges, and initiates a life-long journey of answer-seeking. As I awaited the birth of my son, instead of prepping the nursery, I was instead informed that he was likely to be born with a rare condition that could severely impact his quality of life. An MRI in the first hours of his life had shown he suffered two strokes in utero, and led physicians to a likely diagnosis of Greig syndrome, a rare genetic disease defined by skeletal deficiencies. Having a rare disease, or being the family of a loved one with rare disease, can be a lonely feeling with much uncertainty about the future. There is often little literature on the condition, few advocacy groups, and limited or no treatment options or clinical trials for investigational treatments. But, when examined together, rare disease patients are anything but rare, and they are anything but alone. According to the National Institutes of Health (NIH), 30 million Americans, or 10 percent of the population, have a rare disease. When you look across the globe, 3.5-5.9% of the world’s population, or 263-446 million people, have a rare disease. This Rare Disease Day is an opportunity to raise awareness of the challenges those living with a rare disease face, and why there’s reason to hope, thanks to advances in science that could potentially change the lives of millions of patients. The rare disease gap From diagnosis to treatment, the lifecycle of a rare disease is typically defined by more questions than answers. These questions started before my son was even born. Upon discovering he had extra toes on a late-stage ultrasound along with several abnormalities in his brain, diagnoses of trisomy 18, and rare diseases such as Dandy Walker syndrome and Greig syndrome were being discussed, as my husband and I scrambled to get a clear definition of these conditions and what they would mean for my son’s life – one more devastating than the next. The lack of research in rare disease and variances in symptoms makes it difficult for providers to make an informed diagnosis, which can take years. Even as someone who has spent their career in central nervous system (CNS) disorders, working in close quarters with neurologists and neurosurgeons and well-versed in complex medical speak, I was often at a loss of what the next steps of care held for my son, and I questioned every symptom in those early months of life. Once a diagnosis is made, the assurance of an answer can be short lived – the path toward sustainable disease management and treatment varies widely by disease. There are approximately 7,000 rare diseases, and yet, only 5% have approved drugs. This presents a Catch-22 – the lack of precedent means rare diseases often do not have a clearly defined clinical trial roadmap or established endpoints, making scientific advancements difficult. The inherently small patient populations also make it difficult for researchers to devote resources to and implement a drug development program and conduct clinical trials. When research is pursued, developing rare disease treatments is a challenge due to their complex biology. Without treatment, patients and their families often need to manage these conditions with supportive care, such as a strict diet in the case of metabolic disorders. The hope in mRNA medicine Rare disease is often viewed as a forgotten, nonlucrative area of research. But, when companies put their valuable resources toward researching your disease that seems to only have dead-ends, it can feel like a sigh of relief – someone cares. Even if it doesn’t lead to solutions, knowing someone is trying can make a world of a difference, and ease the heavy uncertainty patients and their families operate under every day. While mRNA became widely known during the pandemic because of its use in Covid-19 vaccines, the technology was investigated as a therapeutic long before then, and has particular potential for rare diseases. mRNA is a molecule that contains instructions that direct the cells to make proteins. Because many rare diseases are caused by a missing or dysfunctional protein, mRNA could help patients with rare metabolic disorders and potentially a variety of these protein and enzyme deficiencies. Now, scientists are investigating mRNA therapeutic candidates, and are seeing promising results to date. One of the biggest benefits to mRNA technology is its flexibility, allowing for slight variations to successfully target adjacent diseases. Advancing the fight against rare disease Despite needing a life-saving shunt to treat hydrocephalus in his first few months of life and multiple orthopedic surgeries in the years to follow, I am grateful that my fifteen-year-old son has largely lived a normal life with only small limitations. He’s one of the lucky ones. There are millions of families just like mine, waiting for the smoke to clear and for long-awaited answers. Pursuing research in rare disease requires researchers to think differently about R&D, commit to a deep understanding of a patient’s lived experience, and build close relationships with the rare disease community. Our family motto is “never give up, never surrender.” Every rare disease patient is a warrior, but the fight doesn’t need to fought alone, and we’re grateful for the dedication to innovative, collaborative research that advances the battle.

By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. By analysing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains. The team identified six cases of Down syndrome and one case of Edwards syndrome in human populations that were living in Spain, Bulgaria, Finland, and Greece from as long ago as 4,500 years before today. The research indicated that these individuals were buried with care, and often with special grave goods, showing that they were appreciated as members of their ancient societies. The global collaborative study, led by first author Dr Adam "Ben" Rohrlach of the University of Adelaide, and senior author Dr Kay Prüfer of the Max Planck Institute for Evolutionary Anthropology, involved screening DNA from approximately 10,000 ancient and pre-modern humans for evidence of autosomal trisomies, a condition where people carry an extra (third) copy of one of the first 22 chromosomes. "Using a new statistical model, we screened the DNA extracted from human remains from the Mesolithic, Neolithic, Bronze and Iron Ages all the way up to the mid-1800s. We identified six cases of Down syndrome," says Dr Rohrlach, a statistician from the University of Adelaide's School of Mathematical Sciences. "While we expected that people with Down syndrome certainly existed in the past, this is the first time we've been able to reliably detect cases in ancient remains, as they can't be confidently diagnosed by looking at the skeletal remains alone." Down syndrome occurs when an individual carries an extra copy of chromosome 21. The researchers were able to find these six cases using a novel Bayesian approach to accurately and efficiently screen tens of thousands of ancient DNA samples. "The statistical model identifies when an individual has approximately 50 per cent too much DNA that comes from one specific chromosome," says Dr Patxuka de-Miguel-Ibáñez of the University of Alicante, and lead osteologist for the Spanish sites. "We then compared the remains of the individuals with Down syndrome for common skeletal abnormalities such as irregular bone growth, or porosity of the skull bones, which may help to identify future cases of Down syndrome when ancient DNA can't be recovered." The study also uncovered one case of Edwards syndrome, a rare condition caused by three copies of chromosome 18, that comes with far more severe symptoms than Down syndrome. The remains indicated severe abnormalities in bone growth, and an age of death of approximately 40 weeks gestation. All of the cases were detected in perinatal or infant burials, but from different cultures and time periods. "These individuals were buried according to either the standard practices of their time or were in some way treated specially. This indicates that they were acknowledged as members of their community and were not treated differently in death," says Dr Rohrlach. "Interestingly, we discovered the only case of Edwards syndrome, and a noticeable increase in cases of Down syndrome, in individuals from the Early Iron Age in Spain. The remains could not confirm that these babies survived to birth, but they were among the infants buried within homes at the settlement, or within other important buildings," says Professor Roberto Risch, co-author and archaeologist from The Autonomous University of Barcelona. "We don't know why this happened, as most people were cremated during this time, but it appears as if they were purposefully choosing these infants for special burials." The research has been published in the journal Nature Communications and was part of a large collaborative project involving researchers from the University of Adelaide, including Dr Adam "Ben" Rohrlach, Dr Jonathan Tuke and Associate Professor Bastien Llamas, as well as researchers from across the world, including at the Max Planck Institute for Evolutionary Anthropology in Germany where the data was generated.