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!
Unique genome architectures after fertilisation in single-cell embryos
30.03.2017 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
Transport of molecular motors into cilia
28.03.2017 | Aarhus University
The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.
To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
30.03.2017 | Health and Medicine
30.03.2017 | Health and Medicine
30.03.2017 | Medical Engineering