Navigation Links
Genetic testing still smart choice, despite uncertainties

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 an d 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 preim plantation 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."


Source:University of Florida

Related biology news :

1. Novel Asthma Study Shows Multiple Genetic Input Required; Single-gene Solution Shot Down
2. Genetically modified natural killer immune cells attack, kill leukemia cells
3. Ants Genetic Engineering Leads To Species Interdependency
4. Genetic Variation Visualization - From EMBL
5. Genetically modified rice in China benefits farmers health, study finds
6. Infants With Rare Genetic Disease Saved by Cord Blood Stem Cells
7. Genetically Modified Natural Killer Immune Cells Attack, Kill Leukemia Cells
8. Genetic defects give the immune system the green light to attack the pancreas
9. Maine Researchers Find Exceptions to Old Rules of Genetic Inheritance
10. Genetic therapy reverses nervous system damage in animal model of inherited human disease
11. Infants with Rare Genetic Disease Saved By Cord Blood Stem Cells
Post Your Comments:

(Date:10/27/2015)... 27, 2015 In the present market scenario, ... for various industry verticals such as banking, healthcare, defense, ... growing demand for secure & simplified access control and ... as hacking of bank accounts, misuse of users, , ... as PC,s, laptops, and smartphones are expected to provide ...
(Date:10/27/2015)... SAN JOSE, Calif. , Oct. 27, 2015 /PRNewswire/ ... human interface solutions, today announced that Google has adopted ... family of touch controller solutions to power its newest ... Nexus 6P by Huawei. --> ... ecosystem partners like Google to provide strategic collaboration in ...
(Date:10/26/2015)... PALO ALTO, Calif. and LAS ... – Nok Nok Labs , an innovator in ... FIDO Alliance , today announced the launch of its ... the first unified platform enabling organizations to use standards-based ... authentication. The Nok Nok S3 Authentication Suite is ideal ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... Studies reveal the differences in species of bacteria ... for more effective treatment for one of the most commonly ... --> --> Gum disease is one ... relatively little was understood about the bacteria associated with it ... researchers from the WALTHAM Centre for Pet Nutrition together with ...
(Date:11/25/2015)... DIEGO , Nov. 25, 2015 Orexigen® ... management will participate in a fireside chat discussion at ... New York . The discussion is scheduled ... .  A replay will be ... Media Contact:McDavid Stilwell  , Julie NormartVP, Corporate Communications ...
(Date:11/24/2015)... Calif. , Nov. 24, 2015 Cepheid ... will be speaking at the following conference, and invited ... New York, NY      Tuesday, December 1, 2015 ... New York, NY      Tuesday, December 1, 2015 ... Jaffray Healthcare Conference, New York, NY ...
(Date:11/24/2015)... QUEBEC CITY , Nov. 24, 2015 /PRNewswire/ - ... the request of IIROC on behalf of the Toronto ... this news release there are no corporate developments that ... price. --> --> ... --> . --> Aeterna Zentaris ...
Breaking Biology Technology: