Chromosomal mosaicism is impacted by compromised embryo culture conditions

Sex Chromosomal Mosaicism

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...

Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos

BACKGROUND To preclude transfer of aneuploid embryos, current preimplantation genetic screening (PGS) usually involves one trophectoderm biopsy at blastocyst stage, assumed to represent embryo ploidy. Whether one such biopsy can correctly assess embryo ploidy has recently, however, been questioned. METHODS This descriptive study investigated accuracy of PGS in two ways. Part I: Two infertile ...

Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome.

BACKGROUND A large percentage of in-vitro generated cleavage stage human embryos are chromosomally mosaic, consisting of both normal (diploid) and abnormal (non-diploid) cells. The present study characterized mosaicism at each stage of cleavage division and examined its effect on preimplantation development in vitro. METHODS A total of 216 normally fertilized (two-pronucleate) embryos which w...

Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH.

So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[6...

Turner Syndrome and Sex Chromosomal Mosaicism