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. 2023 Nov 23;29(12):3233–3242. doi: 10.1038/s41591-023-02645-5

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Extended Data Fig. 7 — a, Haplarithms of fetal EM of PL1758, produced with different references for phasing, namely CV of the same fetus, 2 different siblings, and maternal grandparents. PL1758 shows complex abnormalities with genome-wide triploidy of maternal error origin, and mosaic tetrasomy of Chr 2 and Chr 7, segregational origin appear to be mitotic (Chrs 1, 4, 12), or meiotic II (Chrs 3, 5, 6, 8, 9, 10, 11, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22). Haplarithmisis can accurately determine segregational origin with CV as reference compared to siblings or grandparents as a reference. Validation of PL1758 by RT-qPCR using DNA from spontaneous PL with 69,XXX karyotype and primers for b, exon 12 of the MBD5 gene (2q23.1), c, exon 12 of the ASXL2 gene (2p23.3), and d, exon 1 of the CHCHD2 gene (7p11.2) were used to confirm tetrasomy for Chr 2 and Chr 7 in DNA from CV of PL1758.