Human Reproduction, Vol. 15, No. 8, 1781-1786,
August 2000
© 2000 European Society of Human Reproduction and Embryology
Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro
1 SISMER, Reproductive Medicine Unit, Via Mazzini, 12, 40138, Bologna, Italy, 2 Centre for Early Human Development, Monash Institute of Reproduction and Development, Monash University, 27–31 Wright Street, Clayton, Victoria, 3 Monash IVF, Monash Private Surgical Hospital, Clayton Road, Clayton, Victoria and 4 Monash IVF Gold Coast, Allamanda Medical Centre, Southport, Queensland, Australia
In all, 143 human embryos obtained 3 days (day 3) after insemination or intracytoplasmic sperm injection (ICSI) were biopsied and a single nucleated cell removed for identification of aneuploidy by fluorescent in-situ hybridization (FISH) for chromosomes X, Y, 13, 16, 18 and 21. Fifty-one per cent of embryos were aneuploid and significantly more aneuploid embryos blocked in further development to morulae and blastocysts than euploid embryos (59 versus 34%; P < 0.001). Chromosomal analysis of the generated blastocysts revealed 40% were aneuploid (16 of 40 generated blastocysts). Re-examination of cells by FISH for the same chromosome probes of the inner cell mass (ICM) of expanded and hatching blastocysts derived from the aneuploid embryos revealed a high incidence of mosaicism of ICM cell lineages that were usually predictable from observations of day 3 single-cell biopsies. These data would not support the hypothesis of a preferential allocation of euploid cells to the ICM and aneuploid cells to the trophectoderm. A high concordance between day 3 aneuploidy diagnosis and ICM cell lineages was observed with trisomies (97%), and multiple complex chromosome numerical abnormalities (100%). A reduced concordance was observed with monosomies (65%) and haploidy (18%). Concomitantly, the proportion of ICM cell lineages was increased in blastocysts whose chromosomal condition was diagnosed as haploid (21%) or with complex numerical abnormalities (50%).
Key words: aneuploidy/blastocyst/chromosomal mosaicism/embryo biopsy/inner cell mass cells
5 To whom correspondence should be addressed at: Centre for Early Human Development, Monash Institute of Reproduction and Development, Monash University, 27–31 Wright Street, Clayton, Victoria, Australia 3168. E-mail: alan.trounson{at}med.monash.edu.au
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