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BACKGROUND

CLINICAL DIAGNOSIS

CHROMOSOME SPECIFIC

RESOURCES GLOSSARY
 

Clinical Diagnosis


   

CHROMOSOMAL MOSAICISM FOUND DURING PREIMPLANTATION DIAGNOSIS 

Overview

A preimplantation embryo is a fertilized oocyte which is undergoing early post-zygotic cell divisions as it travels down the fallopian tube into the uterus.  The embryo implants in the wall of the uterus at the 64-cell blastocyst stage.

Review pictures of the early cell divisions.

There is a very high rate of mosaic aneuploidy in the two to eight cell-stage human embryo.  In a study of 250 embryos by Almeida & Bolton (1996) the overall incidence of chromosomal abnormality was 49%.  Studies show that there is progressive loss of chromosomally-abnormal embryos during preimplantation development (Almeida & Bolton, 1996) and the preimplantation embryos with a larger proportion of aneuploid cells are the ones less likely to survive to implantation.  There is evidence of early cell selection factors which select diploid cells over trisomic cells for survival in the developing embryo.

Prenatal Diagnosis

  Chorionic villus sampling

   Amniocentesis

   Ultrasound

   Confined mosaicism

   Uniparental disomy

Diagnosis in blood

>Preimplantation diagnosis

  Preimplantation genetic diagnosis (PGD) is a procedure of embryo biopsy performed on the oocyte/zygote, cleavage stage embryo, or blastocyst.  Most centres currently perform the biopsy at the cleavage stage .  Single-cell diagnosis is performed by the polymerase chain reaction (PCR) or fluorescent in-situ hybridization (FISH) (Harper & Delhanty, 2000).  The high prevalence of mosaicism persisting to the blastocyst stage pose problems for PGD.

 

 

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