Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Prenatal molecular diagnosis for tuberous sclerosis complex

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:

More articles from Health and Medicine:

nachricht Advanced analysis of brain structure shape may track progression to Alzheimer's disease
26.10.2016 | Massachusetts General Hospital

nachricht Indian roadside refuse fires produce toxic rainbow
26.10.2016 | Duke University

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: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

The gene of autumn colours

27.10.2016 | Life Sciences

Polymer scaffolds build a better pill to swallow

27.10.2016 | Life Sciences

Greater Range and Longer Lifetime

26.10.2016 | Power and Electrical Engineering

More VideoLinks >>>