نتایج جستجو برای: aneuploidies

تعداد نتایج: 929  

Journal: :Annals of the New York Academy of Sciences 2008
Y M Dennis Lo

The discovery of cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Over the last few years, a number of approaches have been demonstrated to allow such circulating fetal nucleic acids to be used for the prenatal detection of chromosomal aneuploidies. One such approach involves the enrichment of fetal DNA, such as by size fractio...

Journal: :Orphanet Journal of Rare Diseases 2006
Jeannie Visootsak John M Graham

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY b...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2012

Akhlaghdoust, Meisam , Chaichian, Shahla,

Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...

Journal: :international journal of fertility and sterility 0
maria maurer thomas ebner manuela puchner richard bernhard mayer omar shebl peter oppelt

background: selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (ivf) technology. the high rate of embryonic developmental arrest during ivf treatment is one of the limitations in achieving this goal. chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal f...

Journal: :Environmental Health Perspectives 1979

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