Research studies demonstrating the viability of an approach to routinely detect the presence of fetal DNA in a mother's blood to accurately diagnose or rule out genetic defects -- as early as the first trimester -- was presented today at the 27th Annual Meeting of the Society for Maternal-Fetal Medicine being held in San Francisco.
This future diagnostic technology, currently under development at Sequenom, Inc. (Nasdaq: SQNM), shows promise that a universal alternative to such invasive genetic screening procedures as amniocentesis and chorionic villus sampling, may be available in the future.
These implications are important to women with high-risk pregnancies, in that this future non-invasive screening technique will have significant benefit to all expectant mothers, especially on the heels of new guidelines endorsed by the American College of Obstetricians and Gynecologists (ACOG) that call for risk assessment of all pregnancies for fetal chromosomal abnormalities.
Previous guidelines recommended testing women 35 years and older using amniocentesis or chorionic villus sampling, both considered invasive procedures that carry risks. ACOG now recommends screening before the 20th week of pregnancy using a less invasive screening option that includes ultrasound in conjunction with the measurement of certain blood hormones.
Invasive techniques involve sampling amniotic fluid that surrounds the baby in the uterus or tissue sampling of the placenta. Sequenom's proprietary Fetal Nucleic Acid Technology, currently being developed, may be applicable to a range of non-invasive prenatal tests that use a mother's blood sample for fetal genetic screening. Sequenom's technology, based in part on the foundational research of Professors Dennis Lo and James Wainscoat while at the University of Oxford, isolates and analyzes circulating fetal nucleic acid from a maternal blood sample.
In the opinion of Dr. Kenneth Moise, Professor of Obstetrics and Gynecology and a specialist in Maternal-Fetal Medicine at Baylor College of Medicine in Houston, Texas, this is a major research breakthrough in prenatal medicine.
"This is potentially one of the biggest steps forward to determine genetic conditions in the fetus. The ability to make an early diagnosis is the key that opens the door for the future treatment of many birth defects before the child is born," says Dr. Moise. "This shows promise as an excellent alternative to amniocentesis and may give expectant parents peace of mind."
Through technology licensing agreements with clinical laboratories, Sequenom expects a non-invasive application of its technology for fetal Rhesus D (RhD) typing to become available in these laboratories beginning in the first half of 2007. Rhesus disease can occur when the blood of the expectant mother is incompatible with her unborn child. According to the Centers for Disease Control and Prevention (CDC), the incidence of hemolytic disease caused by RhD incompatibility in newborns occurs in approximately 1 in 1,000 live born infants. Complications from RhD disease can lead to jaundice, anemia, brain damage, heart failure, and death.
"We are making significant progress in developing our proprietary Fetal Nucleic Acid Technology and anticipate applying our novel approach to multiple prenatal tests such as tests for RhD, cystic fibrosis, Down syndrome, and others," said Dr. Harry Stylli, Sequenom President and Chief Executive Officer. "We believe our technology has great potential to substantially improve the standard of care for all pregnant mothers."
David Schemelia | EurekAlert!
Flow of cerebrospinal fluid regulates neural stem cell division
22.05.2018 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
Chemists at FAU successfully demonstrate imine hydrogenation with inexpensive main group metal
22.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg
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...
The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...
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...
Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.
Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...
A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.
Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...
02.05.2018 | Event News
13.04.2018 | Event News
12.04.2018 | Event News
18.05.2018 | Power and Electrical Engineering
18.05.2018 | Information Technology
18.05.2018 | Information Technology