Verinata Health's verifi® prenatal test Expanded To Include The Most Common Sex Chromosome Abnormalities

by Verinata Health from the Sacramento Bee:
Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that it is expanding the verifi® prenatal test capabilities to include detection of the most common sex chromosome abnormalities. Clinicians will now be able to select the sex chromosomes option on the verifi® test to access this addition.Beginning December 3, 2012, the verifi test will offer the most comprehensive non-invasive prenatal test detection menu available. The verifi test detects the most common chromosomal fetal abnormalities seen in pregnancy, including Down syndrome (trisomy 21 or T21), Edwards syndrome (trisomy 18 or T18) and Patau syndrome (trisomy 13 or T13). The optional test expansion now includes not only detection of Turner syndrome (Monosomy X), but also Trisomy X (XXX), Klinefelter syndrome (XXY) and XYY syndrome, the most common fetal sex chromosome abnormalities. The test can also aid in the diagnosis of X-linked disorders.
"The verifi® prenatal test has been expanded to include additional chromosomal findings that are medically important," said Dr. Jeffrey Bird, Executive Chairman and CEO of Verinata Health. "Verinata is committed to advancing safe, accurate, and more comprehensive tests for physicians and pregnant women. We continue to improve non-invasive prenatal testing to include early information that previously required amniocentesis."
The verifi® prenatal test leverages the power of massively parallel sequencing (MPS) with a highly-optimized algorithm to provide clear, informative results for chromosomes 21, 18, and 13 as well as the sex chromosomes. Also, the test may aid in the determination of X-linked disorders such as hemophilia, Duchenne muscular dystrophy or cases of ambiguous genitalia, such as congenital adrenal hyperplasia.
About Sex Chromosome Aneuploidies
According to recent scientific publications, sex chromosome aneuploidies represent approximately five percent of all reported fetal aneuploidies. The most common sex chromosome aneuploidies result from a deletion or addition of an X or a Y chromosome to the expected two sex chromosomes (XX or XY). Subtle neurodevelopmental, language and learning difficulties, as well as anatomical changes result from most forms of sex chromosome aneuploidies. Klinefelter syndrome (XXY) is the most common sex chromosome aneuploidy, affecting approximately one in 500 males. XYY syndrome affects approximately one in 1000 males, whereas trisomy X (XXX) affects approximately one in 1000 females. Turner syndrome (Monosomy X) occurs in one in 2000 female births.
About the verifi® prenatal testThe verifi® prenatal test is a blood test that analyzes genetic material (or DNA) naturally found in a pregnant woman's blood to detect the most common fetal chromosome abnormalities.  When directed by a physician, the verifi test can be offered to pregnant women of at least 10 weeks gestation at high risk of carrying a fetus with a genetic abnormality. A physician may classify a woman as "high-risk" if she is over 35 years of age, has a prior personal or family history of chromosome abnormalities, or has had a positive initial screening test indicating she is at increased risk for carrying a fetus with a genetic abnormality.
Verinata Health, Inc.Verinata is driven by a sole, extraordinary purpose – maternal and fetal health. Our initial focus is to develop and offer non-invasive tests for early identification of fetal chromosomal abnormalities using our proprietary technologies. We aim to reduce the anxiety associated with today's multi-step process, the unacceptable false-positive rates, the non-specific and sometimes confusing results of current prenatal screening methods, as well as the risk of current invasive procedures. In support of national guidelines recommending first trimester aneuploidy risk assessment, we believe women who desire such an assessment should be offered a single blood draw test with a definitive result. The verifi® prenatal test is available throughout the United States, with the exception of New York, through a physician. For more information about Verinata, please go to www.verinata.com.
SOURCE Verinata Health, Inc.
Read more here: http://www.sacbee.com/2012/11/06/4964181/verinata-healths-verifi-prenatal.html#storylink=cpy

How mosaic Down syndrome can be missed

by Shannon Blaeske from Lifes Litte Surprises:

Parents are crazy. Especially moms. And especially new moms. Every sniffle raises alarm, every odd movement or out of routine behavior causes suspicion. So it comes to no surprise to me that doctors have quick answers to all these tiny concerns. I am sure the pediatrician night hot lines ring off the hook all night long from worried moms over-reading into the common cold. But what happens when mothers intuition is right? What happens when the rare, not likely cause of the sniffle is the cause? What happens when doctors dismiss symptoms because they are unaware of what they may be indicating?

For two families, just that happened. Both Holly and Sarah knew certain things were not right with their daughters. Numerous small health concerns kept rising up, and each time, they were dismissed with the most common answers.  For Holly, the answers she was given for the cause her daughters constipation and projectile vomiting did not sit right. And for Sarah when her daughter ended up having a very rare congenital subglottic stenosis, she too questioned if something else could have caused it. But who were they to question doctors? They trusted their opinions. They trusted that they knew best.

Scientists make stunning inner space observations

from Science Codex by University of Leicester:

Scientists using high-powered microscopes have made a stunning observation of the architecture within a cell – and identified for the first time how the architecture changes during the formation of gametes, also known as sex cells, in order to successfully complete the process.

The findings by the international team led by the University of Leicester could impact on the treatment of disorders caused by a misregulation of cellular structures called microtubules. These disorders include Down syndrome, lissencephaly (a brain formation disorder) or cancer.

By exploiting yeast cells, the researchers have discovered for the first time the precise structure adopted by microtubules, which play a vital role in the process of gamete formation, and identified the protein responsible for creating the structure. They further found that the protein needs to be regulated in order to complete gamete formation, failure of which may lead to production of gametes with the wrong number of chromosomes. In humans, these may contribute to disorders such as Down sydrome that result from chromosomal abnormalities.