Fig. 3.

Preimplantation genetic testing (PGT) for de novo mutations (DNMs) (c.4952_4955delAATG) in FBN1 of paternal Marfan syndrome (Mar) combined with maternal reciprocal translocation (Rec). a Genetic results of the first PGT cycle. Left panel: results of linkage analyses (partial SNP sites excerpted) of the blastocyst-stage embryos. Eleven SNP markers were selected and linked to the DNM site to identify the mutant haplotype and the normal haplotype in each embryo. Blue bars indicate the maternal normal haplotype, red bars indicate the paternal mutant haplotype, and green bars indicate the paternal normal haplotype. Right panel: copy number variations (CNVs) of the 4 embryos by whole-genome sequencing (WGS) at an average sequencing depth of 29×. Significant chromosomal abnormalities were identified in embryo E02, E03, and E04 but not embryo E01. b Genetic results of the second PGT cycle. Left panel: results of linkage analyses (partial SNP sites excerpted) of the blastocyst-stage embryos. Eleven SNP markers were identified and linked to the DNM site to identify the mutant haplotype and the normal haplotype in each embryo. Blue bars indicate the maternal normal haplotype, red bars indicate the paternal mutant haplotype, and green bars indicate the paternal normal haplotype. Right panel: CNVs of the 7 embryos by WGS at an average sequencing depth of 8×. Significant chromosomal abnormality was identified in embryos E01, E02, E04, E06, and E07 but not embryos E03 and E05. c Outcome of 2 PGT cycles. Blastocysts biopsied from 11 embryos are subjected to combined haplotype analysis (genotype), and chromosomal CNV and aneuploidy analysis (karyotype). Chr., chromosome number; D, discarded embryos; FET, frozen embryo transferred; ID, reference SNP cluster ID; M, mutant alleles; Position, genomic location; W, wild-type alleles