Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Prenatal molecular diagnosis for tuberous sclerosis complex

03.03.2009
Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

Earlier, the Center for Human Genetics team published the first molecular prenatal diagnosis of TSC. The current study details the sequencing of the TSC genes (TSC1 and TSC2) analysed in 50 completed pregnancies. These findings appear in the March 2009 issue of the American Journal of Obstetrics and Gynecology.

TSC is a genetic disorder that causes tumors to form in many different organs, primarily the brain, eyes, heart, kidney, skin and lungs. In addition, this condition accounts for mental retardation in about 44 percent of patients. Current estimates place TSC-affected births at one in 6,000. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States.

Remarkable advances have occurred in prenatal genetic diagnosis including the resequencing of the 2 tumor-suppressor genes (TSC1 and TSC2) for TSC. DNA studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Among the 50 families studied, mutations were precisely identified in 48 tested fetuses. Mutations were determined by gene sequencing and deletion/duplication analysis of the two TSC genes. Insufficient DNA and poor amniotic fluid cells accounted for no diagnosis in two cases.

According to the researchers, sequencing both the TSC1 and TSC2 genes facilitated detection of about 83 percent of mutations. Coupled with multiple ligation-dependent probe amplification assays an overall detection rate of nearly 93 percent was achieved.

"Physicians are advised to be alert to family history of TSC or unexplained mental retardation and to first test a known affected family member and/or preconception testing rather than the anxiety-provoking, last-minute efforts at prenatal testing initiated in the second trimester of pregnancy," said lead author Aubrey Milunsky, MBBCh, DSc, FRCP, FACMG, DCH, Director of the Center for Human Genetics at BUSM, as well as a professor of human genetics, pediatrics, pathology and obstetrics and gynecology at BUSM.

"Given the clinical and molecular complexities of TSC, it would be advisable for all couples at risk to be referred to a clinical geneticist for evaluation and counseling," he added.

Gina DiGravio | EurekAlert!
Further information:
http://www.bmc.org

More articles from Health and Medicine:

nachricht Enabling technology in cell-based therapies: Scale-up, scale-out or program in-place
23.07.2018 | SLAS (Society for Laboratory Automation and Screening)

nachricht FAU researchers identify Parkinson's disease as a possible autoimmune disease
23.07.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: Future electronic components to be printed like newspapers

A new manufacturing technique uses a process similar to newspaper printing to form smoother and more flexible metals for making ultrafast electronic devices.

The low-cost process, developed by Purdue University researchers, combines tools already used in industry for manufacturing metals on a large scale, but uses...

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

The Maturation Pattern of the Hippocampus Drives Human Memory Deve

23.07.2018 | Science Education

FAU researchers identify Parkinson's disease as a possible autoimmune disease

23.07.2018 | Health and Medicine

O2 stable hydrogenases for applications

23.07.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>