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© 2013 Springer Science+Business Media New York. All rights reserved. It has been known for many decades that chromosomal aneuploidies are responsible for more than half of all spontaneous miscarriages and still births (Ann Hum Genet 44:151-178, 1980; Oxf Rev Reprod Biol 6:1-46, 1984; Oxf Rev Reprod Biol 14:47-72, 1992), making aneuploidy one of the most lethal genetic conditions. Most commonly miscarriages are associated with trisomy of chromosomes 16, 21 and 22 (Ann Hum Genet 44:151-178, 1980; Birth Defects Orig Artic Ser 23:153-168, 1987; Am J Med Genet 72:297-301, 1997). Aneuploidy of other chromosomes is rarely seen in prenatal samples or miscarriages possibly because such errors are so lethal that the conceptuses are lost very early in gestation or prior to implantation. The advent of in vitro fertilisation (IVF) technologies and access to early human embryos in the laboratory provided the opportunity to investigate aneuploidy during first few days after conception.

Original publication





Book title

Human Gametes and Preimplantation Embryos: Assessment and Diagnosis

Publication Date



147 - 155