Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. 2002

Santiago Munné
Saint Barnabas Medical Centre, 101 Old Short Hills Road, Suite 501, West Orange, NJ 07052, USA. Santi.munne@embryos.net

The causes of the decline in implantation rates observed with increasing maternal age are still a matter for debate. Data from oocyte donation strongly suggest that in women of advanced reproductive age, the ability to become pregnant is largely unaffected while oocyte quality is compromised. The incidence of chromosomal abnormalities in embryos is considerably higher than that reported in spontaneous abortions, suggesting that a sizable percentage of chromosomally abnormal embryos are eliminated before any prenatal diagnosis. Such loss may partly account for the decline in implantation in older women. Because of the correlation between aneuploidy and reduced implantation, it has been postulated that selection of chromosomally normal embryos could reverse this trend. Preimplantation genetic diagnosis (PGD) for aneuploidy had three objectives relevant to the present paper: (i) to increase rates of implantation, (ii) to reduce risks of spontaneous abortion, and (iii) to avoid chromosomally abnormal births. Implantation rates did not increase when only five chromosomes were analysed in blastomeres. With eight chromosomes, a significant increase in implantation was achieved. PGD can significantly reduce the incidence of spontaneous abortion. In our clinic, a significant decrease in spontaneous abortions was found, from 23 to 11% after PGD. Currently in cases diagnosed at Saint Barnabas, 0.8% chromosomally abnormal conceptions have been observed after PGD versus an expected 3.2% in a control age-matched group. It seems clear that PGD reduces the possibility of trisomic conceptions under all conditions. If a couple's main interest is to improve their chances of conceiving (improve implantation), then one should consider maternal age and number of available embryos. Improvements in conception after PGD again increase after 37 years of age with eight or nine probes. Carriers of translocations are at a high risk of miscarriage or chromosomally unbalanced offspring, and a high proportion have secondary infertility. PGD of translocations has been approached through a variety of methods, here reviewed, and has resulted in a significant reduction in spontaneous abortions. However, implantation rates in translocation carriers are directly correlated with the proportion of normal gametes, and male patients with 70% or more unbalanced spermatozoa have great difficulty in achieving pregnancy with PGD.

UI MeSH Term Description Entries
D008297 Male Males
D008562 Membrane Glycoproteins Glycoproteins found on the membrane or surface of cells. Cell Surface Glycoproteins,Surface Glycoproteins,Cell Surface Glycoprotein,Membrane Glycoprotein,Surface Glycoprotein,Glycoprotein, Cell Surface,Glycoprotein, Membrane,Glycoprotein, Surface,Glycoproteins, Cell Surface,Glycoproteins, Membrane,Glycoproteins, Surface,Surface Glycoprotein, Cell,Surface Glycoproteins, Cell
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010064 Embryo Implantation Endometrial implantation of EMBRYO, MAMMALIAN at the BLASTOCYST stage. Blastocyst Implantation,Decidual Cell Reaction,Implantation, Blastocyst,Nidation,Ovum Implantation,Blastocyst Implantations,Decidual Cell Reactions,Embryo Implantations,Implantation, Embryo,Implantation, Ovum,Implantations, Blastocyst,Implantations, Embryo,Implantations, Ovum,Nidations,Ovum Implantations
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005188 False Negative Reactions Negative test results in subjects who possess the attribute for which the test is conducted. The labeling of diseased persons as healthy when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed) False Negative Reaction,Reaction, False Negative,Reactions, False Negative
D005189 False Positive Reactions Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed) False Positive Reaction,Positive Reaction, False,Positive Reactions, False,Reaction, False Positive,Reactions, False Positive
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000022 Abortion, Spontaneous Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference. Abortion, Tubal,Early Pregnancy Loss,Miscarriage,Spontaneous Abortion,Abortions, Spontaneous,Abortions, Tubal,Early Pregnancy Losses,Loss, Early Pregnancy,Losses, Early Pregnancy,Miscarriages,Pregnancy Loss, Early,Pregnancy Losses, Early,Spontaneous Abortions,Tubal Abortion,Tubal Abortions

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