Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Cytogenetic research has had a major impact on the field of reproductive medicine, providing an insight into the frequency of chromosomal abnormalities that occur during gametogenesis, embryonic development and pregnancy. In humans, aneuploidy has been found to be relatively common during fetal life, necessitating prenatal screening of high-risk pregnancies. Aneuploidy rates are higher still during the preimplantation stage of development. An increasing number of IVF laboratories have attempted to improve pregnancy rates by using preimplantation genetic diagnosis (PGD) to ensure that the embryos transferred to the mother are chromosomally normal. This paper reviews some of the techniques that are key to the detection of aneuploidy in reproductive samples including comparative genomic hybridization (CGH). CGH has provided an unparalleled insight into the nature of chromosome imbalance in human embryos and polar bodies. The clinical application of CGH for the purposes of PGD and the future extensions of the methodology, including DNA microarrays, are discussed.

Original publication

DOI

10.1002/bies.10232

Type

Journal article

Journal

Bioessays

Publication Date

03/2003

Volume

25

Pages

289 - 300

Keywords

Aneuploidy, Chromosome Aberrations, Chromosomes, Human, Cytogenetics, Female, Fertilization in Vitro, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Preimplantation Diagnosis