(Press-News.org) Cambridge, UK, April 2, 2013 – Preimplantation genetic diagnosis (PGD) technologies allow identification of genetic disorders in human preimplantation embryos after in vitro fertilization (IVF) and before the embryo is transferred back to the patient. This technique allows couples with a high-risk of passing on inherited diseases, to increase their chances of having a healthy baby. Despite the theoretical benefits of PGD, clinical outcomes using these technologies vary, possibly because of the need to remove one or more cells from the embryo using biopsy.
In a recent study published in Reproductive Biomedicine Online, a group of researchers from Italy and the United Kingdom sought to achieve diagnose of genetic disease in embryonic DNA without the use of a biopsy. By extracting fluid from human embryos at the blastocyst stage they found that it contains DNA from the embryo. Blastocysts are 5 or 6 day old embryos and are at the last free-living stage that can be studied in the laboratory prior to transfer into the uterus. They contain between 50 and 300 cells that surround a fluid-filled cavity called the blastocoels. The researchers carefully removed fluid from the blastocoel, leaving the cells intact; the sampled blastocysts were subsequently cryopreserved. Analysis of this fluid showed that it contained cell-free DNA in a state good enough to determine several known genes of the sex chromosomes by polymerase chain reaction (PCR); whole genome amplification and followed by analysis using a specialized tool for genetic testing called a DNA microarray were also used and revealed whether the embryos had a normal number of chromosomes – chromosome abnormalities are one of the main causes of miscarriage and failure of embryos to form pregnancies during IVF treatments.
"This is the first time that embryonic DNA has been detected in the human blastocyst without the use of biopsy," explained lead researchers Dr. Simone Palini Ph.D., from the IVF Unit at Cervesi Hospital in Cattolica, Italy and Dr. Galluzzi from University of Urbino in Italy and Dr. Dagan Wells from University of Oxford, United Kingdom.
"This is a technique that most embryologists can easily master," Dr. Buletti who directs the IVF team at Cervesi Hospital Cattolica and Prof. Magnani, Chairman of the Department of Biomolecular Sciences of the University of Urbino, added. "More work needs to be done to confirm our results, but we hope that this approach will ultimately help infertile couples achieve their dream of having a family. It may also improve the options for families affected by severe inherited conditions, helping them to have healthy babies."
"Even though it is only a preliminary finding, this approach may allow for genetic testing of the embryo without the complexity of cell sampling," Dr. Joe Leigh Simpson MD, Senior Vice President for Research Programs, March of Dimes Foundation and President, International Federation of Fertility Societies (IFFS), a pioneer in reproductive medicine and genetics, commented on the research.
###
This article is "Genomic DNA in human blastocoele fluid" by S. Palini, L. Galluzzi, S. De Stefani, M. Bianchi, D. Wells, M. Magnani, C. Bulletti (10.1016/j.rbmo.2013.02.012).The article is currently an Article in Press in Reproductive Biomedicine Online, (March, 2013), published by Elsevier.
Notes for Editors
Full text of the article is available to credentialed journalists upon request; contact newsroom@elsevier.com. Journalists wishing to interview the authors may contact Greyling Peoples at +31 20 485 3323 or g.peoples@elsevier.com.
About the authors
Simone Palini
IVF Unit, 'Cervesi' Hospital Cattolica, 47841 Cattolica (Rn), Italy
L. Galluzzi
Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', 61029, Urbino (PU), Italy
S. De Stefani
IVF Unit, 'Cervesi' Hospital Cattolica, 47841 Cattolica (Rn), Italy
M. Bianchi
Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', 61029, Urbino (PU), Italy
Dagan Wells
University of Oxford, Institute of Reproductive Sciences, Oxford Business, Park North, Oxford, United Kingdom
M. Magnani
Chairman of the Department of Biomolecular Sciences of the University of Urbino
About Reproductive Biomedicine Online
Reproductive Biomedicine Online (http://www.rbmojournal.com) covers the formation, growth and differentiation of the human embryo. It is intended to bring to public attention new research on biological and clinical research on human reproduction and the human embryo including relevant studies on animals. It is published by a group of scientists and clinicians working in these fields of study. Its audience comprises researchers, clinicians, practitioners, academics and patients.
It is an official publication of:
The American Association of Bioanalysts (AAB) http://www.aab.org
Alpha – Scientists in Reproductive Medicine, http://alphascientists.org
The American College of Embryology (ACE) http://www.embcol.org
The Global Chinese Association for Reproductive Medicine (GCARM) http://www.gcarm.com
The International Society for In Vitro Fertilization (ISIVF) http://www.isivf.com
The Mediterranean Society for Reproductive Medicine (MSRM) http://www.medreproduction.org
The Preimplantation Genetic Diagnosis International Society (PGDIS) http://www.pgdis.org
The Turkish Society of Reproductive Medicine (TSRM) http://www.tsrm.org.tr
ABOUT ELSEVIER
Elsevier is a world-leading publisher of scientific, technical and medical information products and services. The company works in partnership with the global science and health communities to publish more than 2,000 journals, including The Lancet and Cell, and close
to 20,000 book titles, including major reference works from Mosby and Saunders. Elsevier's online solutions include SciVerse ScienceDirect, SciVerse Scopus, Reaxys, MD Consult and Nursing Consult, which enhance the productivity of
science and health professionals, and the SciVal suite and MEDai's Pinpoint Review, which help research and health care institutions deliver better outcomes more cost-effectively.
A global business headquartered in Amsterdam, Elsevier employs 7,000 people worldwide. The company is part of Reed Elsevier Group PLC, a world-leading publisher and information provider, which is jointly owned by Reed Elsevier PLC and Reed Elsevier NV. The ticker symbols are REN (Euronext Amsterdam), REL (London Stock Exchange), RUK and ENL (New York Stock Exchange).
Situated at the foothills of the Western Tian-Shan, Kyrgyzstan is home to a diverse range of vascular plants, many of which are endemic and can only be found in very narrowly circumscribed areas. Such is the case for the onion species Allium spathulatum that had long remained undetected in spite of living within the famous Sary-Chelek Nature Reserve. Even in close proximity to the headquarters it remained unnoticed until it was finally described in 1998.
The species occurs in the low-altitude forest zone, between 1600 and 1700 m a.s.l., dwelling in river valleys, on open ...
Scientists use genetically modified laboratory mice to investigate the underlying mechanisms of diseases. These "knockout" mice carry genes or gene regions that are thought to trigger diseases.
For laboratories, the knockout technique requires a lot of time and effort. "Scientists start by engineering a genetic defect into embryonic stem cells," explains Prof. Wolfgang Wurst, who carries out research at Technische Universität München (TUM) and Helmholtz Zentrum München. "Then they implant the manipulated stem cells into a mouse embryo."
Genetic defects made to order
After ...
Two Canadian scientists have undertaken the challenging task to bring up to date the catalogues written by one of the most passionate collectors of beetles, Coleoptera, in the 19th century, Pierre Dejean. Dr. Yves Bousquet and Dr. Patrice Bouchard, who work with the Canadian National Collection of Insects, Arachnids and Nematodes, have now produced a pioneering detailed review of the important nomenclatural and taxonomic data in these rich publications. Two articles analyzing the Coleoptera genera in the second (1833) and third (1836) catalogues of Dejean's collection were ...
Biologists from the Ruhr-Universität Bochum have explored how to protect neurons that control movements from dying off. In the journal "Molecular and Cellular Neuroscience" they report that the molecule 7,8-Dihydroxyflavone, also known as vitamin P, ensures the survival of motor neurons in culture. It sends the survival signal on another path than the molecule Brain Derived Neurotrophic Factor (BDNF), which was previously considered a candidate for the treatment of motoneuron diseases or after spinal cord damage. "The Brain Derived Neurotrophic Factor only had a limited ...
MIAMI – April 2, 2013 – Ocean acidification, which occurs as CO2 is absorbed by the world's oceans, is a source of concern for marine scientists worldwide. Studies on coral, mollusks, and other ocean denizens are helping to paint a picture of what the future might entail for specific species, should carbon emissions continue to increase.
In a new study published in Global Change Biology, University of Miami (UM) Rosenstiel School of Marine & Atmospheric Science researchers Sean Bignami, Su Sponaugle, and Robert Cowen are the first to study the effects of acidification ...
Porous polymer scaffolds fabricated to support the growth of biological tissue for implantation may hold the potential to greatly accelerate the development of cancer therapeutics.
Researchers at Rice University and the University of Texas MD Anderson Cancer Center in Houston and Mount Sinai Medical Center in New York reported this week that three-dimensional scaffolds used to culture Ewing's sarcoma cells were effective at mimicking the environment in which such tumors develop.
Their research appears online this week in the Proceedings of the National Academy of ...
People with mental illnesses are more than seven times more likely to use cannabis weekly compared to people without a mental illness, according to researchers from the Centre for Addiction and Mental Health (CAMH) who studied U.S. data.
Cannabis is the most widely used illicit substance globally, with an estimated 203 million people reporting use. Although research has found links between cannabis use and mental illness, exact numbers and prevalence of problem cannabis use had not been investigated.
"We know that people with mental illness consume more cannabis, ...
Olympic swimmers aren't the only ones who change their strokes to escape competitors. To escape from the jaws and claws of predators in cold, viscous water, marine copepods switch from a wave-like swimming stroke to big power strokes, a behavior that has now been revealed thanks to 3-D high-speed digital holography.
Copepods are tiny crustaceans found in nearly every aquatic environment on Earth. By some estimates, they are the most abundant animals on the planet.
Their change in stroke in cold water helps them escape a slew of predators, from larval fish to crabs, ...
Spiral galaxies are some of the most beautiful and photogenic residents of the universe. Our own Milky Way is a spiral. Our solar system and Earth reside somewhere near one of its filamentous arms. And nearly 70 percent of the galaxies closest to the Milky Way are spirals.
But despite their common shape, how galaxies like ours get and maintain their characteristic arms has proved to be an enduring puzzle in astrophysics. How do the arms of spiral galaxies arise? Do they change or come and go over time?
The answers to these and other questions are now coming into focus ...
The American Board of Internal Medicine Foundation recently recommended against routine use of medications to treat infants for gastroesophageal reflux (GERD), commonly known as reflux disease. From 1999-2004 the use of prescription medications to treat this disease in infants increased 700 percent. However, these acid-reducing medications have been found to be ineffective at alleviating symptoms commonly diagnosed as GERD, such as excessive crying and spitting up. This suggests that GERD is often over-diagnosed in infants. In a new study, MU Psychology Professor Laura ...
