Besides offering a new model
for aneuploidy studies, we show that further genomic studies should be done directly in clinical samples without parasite isolation and that adequate methods should be developed for this.
Leishmania, a major protozoan parasite, is emerging as a new model
for aneuploidy, since in vitro - cultivated strains are highly aneuploid, with interstrain diversity and intrastrain mosaicism.
She led an NIHR programme («Rapid Accurate Prenatal non-Invasive Diagnosis (RAPID) which resulted in NHS implementation of NIPD for rare diseases, and provided the evidence to support routine implementation into NHS maternity care of NIPT
for aneuploidy.
«The authors went on to study the resulting blastocysts
for aneuploidy (frequency of abnormal chromosomes), and pattern of gene expression (which genes are active and at what level).
The analysis of cell free DNA in maternal plasma has led to widespread introduction of less invasive testing
for aneuploidy, but less so for monogenic disorders.
The unique 95 % uptake of first trimester combined and free - of - charge screening in Finland provides cffDNA second - tier screening for all screen - positive women and those with a priority high risk
for aneuploidy.
A key strength of the study is that the diagnostic performance was compared against full karyotyping, which is the gold standard
for aneuploidy diagnosis.
Heitman is currently looking
for aneuploidy in samples from the outbreak of Cryptococcus gattii in the western part of North America to see if it can explain how this sister strain of Cryptococcus neoformans has come to infect otherwise healthy individuals.
Until now, one of the only ways of screening eggs or embryos
for aneuploidy was to use a technique called fluorescence in - situ hybridisation (FISH), in which specific chromosomes are stained with small pieces of fluorescent DNA to...
Preimplantation genetic screening
for aneuploidy allows physicians and laboratory technicians to identify genetically normal embryos that are more likely to result in a healthy baby.
Preimplantation genetic screening
for aneuploidy at our Virginia fertility center can help hopeful parents avoid passing debilitating genetic disorders to their children.
To prevent devastating genetic conditions, our Virginia fertility center offers preimplantation genetic screening
for aneuploidy.
Not exact matches
PGS
for gay couples helps determine if any of the embryos have extra or missing chromosomes, known as
aneuploidy, or if any chromosomes have translocated, which means a piece of a chromosome has broken off and reattached itself to a different part of the chromosome or even to another chromosome.
PFC offers CCS as an option
for patients undergoing in vitro fertilization (IVF), as a treatment
for recurrent miscarriage, prevention of
aneuploidy in pregnancy, and
for women that wish to improve implantation rates, reduce miscarriage rates, and reduce the risk of multiple pregnancy after IVF.
When logistic models were stratified by the presence or absence of hypertensive disease, only maternal age older than 34 years (odds ratio [OR], 1.4; 95 % confidence interval [CI], 1.0 - 2.0), pregnancy - associated plasma protein - A of the 95th percentile or less (OR, 1.9; 95 % CI, 1.2 - 3.1), and alpha fetoprotein of the 95th percentile or greater (OR, 2.3; 95 % CI, 1.4 - 3.8) remained statistically significantly associated
for abruption.In this large, population - based cohort study, abnormal maternal
aneuploidy serum analyte levels were associated with placental abruption, regardless of the presence of hypertensive disease.
The objective of the study was to examine the association between placental abruption, maternal characteristics, and routine first - and second - trimester
aneuploidy screening analytes.The study consisted of an analysis of 1017 women with and 136,898 women without placental abruption who had first - and second - trimester prenatal screening results, linked birth certificate, and hospital discharge records
for a live - born singleton.
«Unfortunately our paper suggests that tumors don't even need to be heterogeneous genetically, the very fact that they have
aneuploidy could lead to very variable outcomes, and that represents a significant challenge
for cancer therapy,» Amon says.
But in a paper published in the journal Cell, researchers at the Koch Institute
for Integrative Cancer Research at MIT reveal that
aneuploidy alone can cause this significant variability in traits, in otherwise genetically identical cells.
Because
aneuploidy and chromosomal abnormalities are commonly observed in cancer, the researchers looked
for evidence of DNA damage in the fused clones.
Given the rapid succession of generations in yeast, we can use it as a model organism — and study the mechanisms of
aneuploidy in much greater detail to find out whether we can derive from it new approaches
for diagnosing and treating human diseases.»
Scientists from the Luxembourg Centre
for Systems Biomedicine (LCSB) of the University of Luxembourg, in collaboration with colleagues from the US Institute
for Systems Biology (ISB) in Seattle, have now systematically studied the genetics of this process, which biologists refer to as
aneuploidy.
For more than 100 years, researchers have been unable to explain why cancer cells contain abnormal numbers of chromosomes, a phenomenon known as
aneuploidy.
Researchers from Leibniz Institute
for Age Research — Fritz Lipmann Institute (Jena, Germany) now identified a crucial role of telomeres, the end structures of chromosomes,
for sensing cells with a wrong chromosome number, referred to as
aneuploidy.
Aneuploidy is responsible
for the observed phenotypic changes, as chromosome loss restoring euploidy results in a wild - type phenotype.
My post-doctoral work on the identification of genes required
for normal germ line development and fertility led to the discovery that the germ line is exquisitely sensitive to mutations in components of the mitotic spindle that have the potential to lead to
aneuploidy — this sensitivity may also extend to embryonic and adult stem cells.
Aneuploidy (an abnormal number of chromosomes) is the most common genetic alteration in human tumors and a major cause
for birth defects (Figure 4).
Errors in chromosome segregation are a major cause
for birth defects and embryonic lethality in humans, and the most common genetic alteration in human tumors is aberrant chromosome numbers, called
aneuploidy.
The team's work highlights this by presenting a comprehensive view of genome evolution on many different levels (e.g., differences in ploidy,
aneuploidy, genetic variants, hybridization, and introgressions) that is difficult to obtain at the same scale and accuracy
for other eukaryotic organisms.
Among them, there are genetic instability (mainly
aneuploidy, a defect in chromosome number), defects in the symmetry of cell division (important
for cell fate specification and tissue architecture) and impaired ciliogenesis.
Each mouse autosome is present in at least two Robertsonian chromosomes, so that these stocks can be used to generate specific
aneuploidies for each of the 19 mouse autosomes.
Noninvasive prenatal testing (NIPT) by maternal plasma DNA sequencing is now clinically available
for screening fetal chromosomal
aneuploidies; these tests have close to 99 % sensitivity..
For reasons not completely understood, we have an extraordinarily high rate of
aneuploidy, with ~ 10 % of clinically recognized pregnancies having a fetus with too many or too few chromosomes.