Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic testing still smart choice, despite uncertainties

21.12.2005


Technique to pick healthy embryos highly reliable, but small margin of error remains



Screening embryos for genetic diseases during in vitro fertilization offers couples the best chance for a healthy child, but a genetic glitch could potentially cause doctors to misdiagnose a small fraction of them, University of Florida researchers say.

Citing concerns about the accuracy of preimplantation genetic diagnosis, the method many practitioners use to pick the healthiest embryos during IVF, UF researchers set out to study the procedure. Their work, described during a recent meeting of the American Society of Reproductive Medicine, reveals the technique is actually highly reliable. But because there is a slim chance a genetic abnormality can cause doctors to misdiagnose embryos, some concerns still need to be addressed, the researchers said.


Preimplantation genetic diagnosis has been used for more than a decade to screen embryos for hereditary diseases such as Down syndrome and other abnormalities. To do this, one cell from an eight-cell embryo is extracted and examined for chromosomal defects.

However, as many as half these embryos spawn cells with different genetic information as they divide, giving doctors an inaccurate idea of how the embryo will continue to develop, said Larissa Kovalinskaia, M.S., a UF research associate with the College of Medicine’s IVF program. While many embryos with this abnormality - called chromosomal mosaicism - stop developing early, some go on to be born. Because these embryos’ cells contain different sets of chromosomes, doctors cannot always accurately screen them for genetic diseases, Kovalinskaia said.

"As more data were coming out, saying that as many as 50 percent of (IVF) embryos were mosaic, we started worrying about the accuracy of preimplantation genetic diagnosis," she said. "When you take one cell, does it represent the entire embryo? What we’ve shown is that we can rely on PGD."

UF researchers estimate less than 3 percent of healthy embryos are discarded as abnormal and only 1.5 percent are implanted with undetected genetic defects because of mosaicism.

To find out how big of a problem mosaicism is, the researchers developed a mathematical model using data from UF’s IVF program and other programs to illustrate the different paths an embryo takes as it develops. While half of embryos turn out normal, with no mosaicism, the other half produce irregular cells as they divide.

Embryos that become mosaic after their cells divide twice typically stop progressing by the time they have accumulated eight cells. Too many of their cells have chromosomes that don’t match and these mixed messages lead the embryo to stop developing, Kovalinskaia said.

Embryos with only one or two irregular cells still have a chance to develop normally though, she said. These embryos tend to not develop this abnormality until after their cells have divided a third time, typically the time when doctors perform preimplantation genetic diagnosis. This is where the problem with diagnosis occurs, researchers say.

"Our pathway concept may help to explain the observed outcomes during preimplantation diagnosis," said Kenneth Drury, Ph.D., director of the UF IVF and Andrology Laboratory and a clinical professor in the College of Medicine who was one of the researchers. "When we biopsy an eight-cell embryo, if we choose (the one) normal cell in an abnormal embryo, we may think that embryo is normal and transfer it.

"This occurs about 1 percent of the time, which means 99 percent of the time we will be accurate. Again the error is not due to a technical mistake but to natural errors occurring during early cell division in the embryo."

Extracting test cells before the embryo divides a third time could reduce the number of misdiagnoses because of mosaicism, the UF researchers suggest. Improving culture conditions could help too, Kovalinskaia said.

But the small margin of error shouldn’t stop couples from having preimplantation genetic diagnosis, said Jamie Grifo, M.D., Ph.D., a professor of obstetrics and gynecology at New York University. The testing can work miracles for women prone to miscarriages or who carry genetic diseases, he said.

"If you are at risk for genetic diseases, it changes your outlook on starting a family," he said. "PGD allows them to get pregnant. It’s a dramatic improvement when it works."

More than 45,000 babies are born each year with the aid of assisted reproductive technologies like IVF, according to the Centers for Disease Control and Prevention. The use of IVF has declined in recent years, but Grifo said that is largely because baby boomers are leaving their childbearing years. Technologies like preimplantation genetic diagnosis have helped too, making IVF more accurate, he said.

"There has been a lot of progress," Grifo said. "It’s helped many patients."

April Frawley Birdwell | EurekAlert!
Further information:
http://www.vpha.health.ufl.edu

More articles from Life Sciences:

nachricht Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo

nachricht Research reveals how order first appears in liquid crystals
23.05.2018 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Research reveals how order first appears in liquid crystals

23.05.2018 | Life Sciences

Space-like gravity weakens biochemical signals in muscle formation

23.05.2018 | Life Sciences

NIST puts the optical microscope under the microscope to achieve atomic accuracy

23.05.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>