Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Sampling of embryonic DNA after IVF without biopsy

02.04.2013
New study published in Reproductive Biomedicine Online shows that fluid-filled cavity in 5-day old human blastocysts may contain DNA from the embryo, allowing diagnosis of genetic disease without a biopsy

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).

Greyling Peoples | EurekAlert!
Further information:
http://www.elsevier.com

More articles from Life Sciences:

nachricht What the world's tiniest 'monster truck' reveals
23.08.2017 | American Chemical Society

nachricht Treating arthritis with algae
23.08.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

What the world's tiniest 'monster truck' reveals

23.08.2017 | Life Sciences

Treating arthritis with algae

23.08.2017 | Life Sciences

Witnessing turbulent motion in the atmosphere of a distant star

23.08.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>