Preimplantation genetic testing without invasive embryo biopsy

Supplementary Table 5 – Segmented haplotype counts flanking the monogenic region of interest This table summarizes the number of segmented haplotypes within the ±2 Mb region flanking the locus of the monogenic disorder (region of interest, ROI), defined individually per embryo/family based on the pathogenic variant. The first tab shows the invasive PGT result. The second tab presents non-invasive results using a 6 Mb segmentation window at full sequencing coverage. The final two tabs display MALBACNL samples subsampled to 5X and 10X coverage; for these analyses, only 6 Mb segmentation results are shown. Outcomes are color-coded to indicate concordance between the non-invasive result and the biopsy-based PGT diagnosis. Green means concordant and red means non-concordant (green, concordant; red, non-concordant). Supplementary Data 1 – Copy number profiles from SCM samples Copy number variation profiles from spent culture medium (SCM) samples of embryos. Black dots represent raw logR values, while red dots indicate segmented logR values. Supplementary Data 2 – Comparison of haplarithms meiotic I aberration in chr14 for E88 Comparison of haplarithm with adjusted kmin for non-invasive samples. For each page, profiles are shown from top to bottom as follows: invasive paternal and maternal haplarithm, invasive logR, non-invasive logR, non-invasive haplotypes, non-invasive haplarithm with kmin as mentioned at the top. In the haplarithms, blue dots indicate P1/M1 and red dots indicate M2/P2. For copy number profiles, black dots represent raw logR values, and orange dots indicate segmented logR. Supplementary Data 3 – Comparison of haplarithms meiotic I aberration in chr2 for E89 Comparison of haplarithm with adjusted kmin for non-invasive samples. For each page, profiles are shown from top to bottom as follows: invasive paternal and maternal haplarithm, invasive logR, non-invasive logR, non-invasive haplotypes, non-invasive haplarithm with kmin as mentioned at the top. In the haplarithms, blue dots indicate P1/M1 and red dots indicate M2/P2. For copy number profiles, black dots represent raw logR values, and orange dots indicate segmented logR. Supplementary Data 4 – Comparison of haplarithms meiotic I aberration in chr15 for E90 Comparison of haplarithm with adjusted kmin for non-invasive samples. For each page, profiles are shown from top to bottom as follows: invasive paternal and maternal haplarithm, invasive logR, non-invasive logR, non-invasive haplotypes, non-invasive haplarithm with kmin as mentioned at the top. In the haplarithms, blue dots indicate P1/M1 and red dots indicate M2/P2. For copy number profiles, black dots represent raw logR values, and orange dots indicate segmented logR.