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Genetic tests improve the diagnosis of abnormalities in developing babies who are picked up during an ultrasound, scientists report today (31 January) at The lancet. Scientists from the Wellcome Sanger Institute, the University of Cambridge, the University of Birmingham, the Great Ormond Street Hospital (GOSH) and their collaborators have used genome sequencing to improve the diagnosis of abnormalities detected by ultrasound. 'around 10%. Without genomic information, these abnormalities may not have been diagnosed before pregnancy, if at all.
The results suggest that if genome sequencing results can be provided within the timeframes of a pregnancy, the additional diagnosis can then support the family's care, advice and decision-making during pregnancy.
About 3% of pregnancies have an abnormality in the developing baby's structure, which is detected by routine prenatal ultrasound. These may include heart, brain, skeletal or, in some cases, many of the baby's organs.
After detecting a baby's developmental problem with the help of a prenatal ultrasound, parents will want to know the likely outcome for their child, but there may be many possible causes for this abnormality.
In the largest study of its kind, Wellcome Sanger Institute researchers and their collaborators provided a genetic diagnosis of approximately 10% of pregnancies with detected abnormalities. Without genetic testing, the genetic modifications at the origin of the development problem would not have been detected by standard diagnostic tests.
The research supports the traditional use of more detailed genetic testing alongside other tests to provide better information to parents on how their child is likely to be affected.
Dr. Matthew Hurles, of the Wellcome Sanger Institute, said, "Genetic testing can help identify some of the problems that are encountered with ultrasounds and can give families much clearer answers about the condition of a baby. a structural abnormality of the heart seen an ultrasound can be caused by a disease that only affects the heart and can be corrected quite easily, or may be related to something more complicated, such as neurological development, which could affect on the schooling of the child in the future. "
The research was part of the Prenatal Evaluation of Genomes and Exomes (PAGE), which aims to better understand genetic alterations, or variants, that cause developmental problems during pregnancy. The aim of the PAGE study is to improve prenatal diagnoses, to enable better genetics-derived prognoses, and to provide better informed parenting advice in the future.
Scientists worked with a national network of fetal medicine and genetics clinics around the UK to recruit pregnant women with detected ultrasound abnormalities for their participation in the study.
The team finalized the sequencing * of the whole exome of 610 developing babies with detected abnormalities and 1,066 biological parents. DNA samples of pregnancies were collected during routine checks for other conditions, such as Down syndrome, through procedures such as amniocentesis and sampling chorionic villi.
Researchers identified new diagnoses of known genetic disorders in 52 of 610 pregnancies, or 8.5%. The team found that genetic diagnoses were significantly more common in fetuses with heart defects, skeletons or multiple organs, which could prioritize some ultrasound results for genetic testing.
Professor Eamonn Maher of the University of Cambridge said: "More genetic diagnoses have been made for developing babies with heart, skeletal or multiple organ problems. which indicates that in the future, genetic tests for establishing diagnoses may be adapted depending on the type of treatment.
Lyn Chitty, Professor of Genetics and Fetal Medicine at GOSH and the Institute of Child Health (ICH) of Great Ormond Street, said: "The study shows that sequencing the genome improves the diagnosis of Genetic conditions in developing babies By making these findings available during pregnancy, we will be able to offer better advice to parents and allow access to appropriate care.The next step is to work towards the implementation this approach at the national level so that more families can benefit from it. "
Professor Mark Kilby, of the Institute for Research on Metabolism and Systems at the University of Birmingham, and Clinical Lead in Fetal Medicine at the Birmingham NHS Foundation for Children and Children, said: "We hope that our research will contribute to NHS England's ambition to use invasive, and then non-invasive, technologies to perform exome sequencing during generic or targeted screening of infants for the purpose of detecting conbad abnormalities at home." during pregnancy. "
The results of this study were shared with families through their genetic counselors to help them decide how to treat or manage the disease. Most of the diagnoses involved conditions with a low risk of recurrence in future pregnancies.
Jane Fisher, director of the Antenatal Results and Choices charity, said, "When the scanner tells expectant parents that their baby is not growing as expected, it is most often the case. a huge shock and they are anxious to know as much as possible.A genetic diagnosis can help provide them with important information about their baby's future prospects and whether they could cope with it. to a similar situation in future pregnancies. "
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Notes to editors:
* The genome consists of genes coding for proteins (exons) and genes that do not encode proteins (introns). Together, all genes coding for proteins call the exome. Complete exome sequencing is the process of reading the genetic code of the exome – all the genes coding for proteins, while whole genome sequencing is the process of reading the genetic code of all genes of the genome.
Selected sites:
PAGE study
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Institute of Metabolism and Systems Research at the University of Birmingham
https: /
The University of Birmingham
The University of Birmingham is ranked among the 100 best institutions in the world. His work brings people from around the world to Birmingham, including researchers, teachers, and more than 5,000 international students from more than 150 countries.
About the NHS Foundation for Women and Children in Birmingham
The Birmingham NHS Foundation Birmingham (BWC) brings together the best pediatric and women's care in the region and is proud to have a team of surgeons, doctors, nurses, midwives and other British and global healthcare professionals.
The Birmingham Women's Hospital is a center of excellence that annually offers a range of specialized health care services to more than 50,000 women and their families from Birmingham, the West Midlands and beyond. . In addition to giving birth each year to over 8,200 babies, it offers a full range of gynecological, maternity and neonatal care, as well as a comprehensive genetics service, aimed at both men and women. Its fertility center is one of the best in the country, while the Fetal Medicine Center receives regional and national references. The hospital is also an international center for education, research and development, with a research budget of more than £ 3 million a year. It is proud to house a national center for miscarriage research – the first of its kind in the UK – in partnership with Tommy & # 39; s. baby charity.
The Birmingham Children's Hospital is the leading specialist pediatric center in the UK. It takes care of sick children and young people from 0 to 16 years old. Located in the heart of Birmingham's city center, the hospital is a world leader in advanced treatments, complex surgical procedures and cutting edge research and development. The hospital is a national center specializing in epilepsy surgery and also has a major pediatric trauma center in the West Midlands, a national center for liver and small bowel transplantation, and a center of excellence for complex heart disease, burn treatment, cancer and liver. and kidney disease.
Our Trust also hosts one of the country's largest child and youth mental health services, which includes an inpatient eating disorders unit and an acute disease badessment unit for regional child referrals. and youth facing the most serious problem (Level 4) and the only community mental health service Forward Thinking Birmingham for ages 0 to 25 years.
Outcomes and Prenatal Choices (ARC)
ARC is the only charity in the UK providing independent non-directive information and specialized support to women and couples through prenatal testing and its consequences. ARC also works closely with clinicians in the field and runs a well-established training program for health professionals. To learn more about ARC, visit http: // www.
About the University of Cambridge
The University of Cambridge's mission is to contribute to society by pursuing studies, learning and doing research at the highest international levels of excellence. To date, 107 members of the University have won the Nobel Prize.
Founded in 1209, the University has 31 independent colleges hosting undergraduate and small group courses, as well as 150 departments, faculties and institutions. Cambridge is a world university. Its 19,000 students include 3,700 international students from 120 countries. Cambridge researchers collaborate with colleagues from around the world, and the university has established larger-scale partnerships in Asia, Africa, and America.
The university is at the heart of Cambridge's "cluster", which employs 60,000 people and generates over £ 12 billion in business turnover each year, thanks to the 4,700 knowledge-intensive companies in Cambridge. the city and surroundings. The city publishes 341 patents per 100,000 inhabitants. http: // www.
About The Great Ormond Street Children's Hospital NHS Foundation Trust
Founded in 1852, the Great Ormond Street Hospital is one of the world's leading children's hospitals. It brings together the widest range of specialist children's health specialists, united under one roof in the UK. With more than 252,000 outpatient consultations and 43,000 hospital visits each year, innovative hospital research and treatment gives hope to children across the UK suffering from the rarest conditions, more complex and often the most dangerous. As a center of international excellence in children's health care, our patients and their families play a central role in everything we do – from the moment they walk through the door and for as long as they can. ;They need us.
About the Great Great Ormond Street Children's Health Institute (ICH) of the UCL
The Institute of Child Health (ICH) at UCL's Great Ormond Street is part of the Faculty of Population Health Sciences of the School of Life and Medical Sciences at University College London. Together with its clinical partner Great Ormond Street Children's Hospital, the NHS Foundation Trust (GOSH), it is the only biomedical research center of the National Institute for Health Research Research in the UK and houses the largest concentration of research on the health of children in Europe. For more information, visit http: // www.
The Wellcome Sanger Institute
The Wellcome Sanger Institute is one of the world's leading genomics centers. Through its ability to conduct large-scale research, it is able to engage in bold, long-term exploratory projects designed to influence and empower medical science globally. The research results of the Institutes, generated by its own research programs and by its leading role in international consortia, are used to develop new diagnostics and treatments for human diseases. To celebrate 25 years in 2018, the institute is sequencing 25 new genomes of species in the UK. Learn more about http: // www.
About Wellcome
Wellcome exists to improve health by helping good ideas flourish. We support researchers, take on major health challenges, advocate for better science, and help everyone to participate in scientific research and health. We are an independent foundation politically and financially.
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