Fig. 3.

PGD and carrier diagnosis of a t(9;17) patient.

In total, 7 embryos were obtained and analyzed. Based on complete chromosome screening, embryos 1, 2, 4, and 7 were identified as normal/carrier embryos, whereas embryos 3, 5, and 6 were identified as unbalanced embryos (a). Junction-spanning PCR analysis of whole-genome amplification products from embryos showed that embryos 1, 4, and 7 were positive and that embryo 2 was negative (b), indicating that only embryo 2 was a normal embryo, while the other 3 embryos were carriers. SNP analysis confirmed that only embryo 2 was negative for informative SNPs (red) characters in panel (c). The normal blastocyst was transferred after the subject gave informed consent, and a successful pregnancy was established. Prenatal diagnosis confirmed that the fetus had a normal karyotype (d).