PURPOSE: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. METHODS: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. RESULTS: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. CONCLUSIONS: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6-2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.
PURPOSE: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. METHODS: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. RESULTS: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. CONCLUSIONS: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6-2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.
Authors: A Ao; P Ray; J Harper; J Lesko; T Paraschos; G Atkinson; I Soussis; D Taylor; A Handyside; M Hughes; R M Winston Journal: Prenat Diagn Date: 1996-02 Impact factor: 3.050
Authors: J C Harper; E Coonen; F C Ramaekers; J D Delhanty; A H Handyside; R M Winston; A H Hopman Journal: Hum Reprod Date: 1994-04 Impact factor: 6.918
Authors: J D Delhanty; D K Griffin; A H Handyside; J Harper; G H Atkinson; M H Pieters; R M Winston Journal: Hum Mol Genet Date: 1993-08 Impact factor: 6.150
Authors: Shawn L Chavez; Kevin E Loewke; Jinnuo Han; Farshid Moussavi; Pere Colls; Santiago Munne; Barry Behr; Renee A Reijo Pera Journal: Nat Commun Date: 2012 Impact factor: 14.919