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. 2023 Jan 19;29(1):180–189. doi: 10.1038/s41591-022-02142-1

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© Crown 2023, corrected publication 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. 4 — (a) Sunburst plot representing families with neonatal death; loss of an infant up to 28 days old. This plot shows that out of the four subgroups of fetal and neonatal loss, cases with neonatal deaths have the highest number of genomic findings (23/29 POS and 6/29 NAD). Neonates with respiratory and neurological abnormalities represent one third of this subgroup. Neonates with two or more major organ systems affected, and hematopoietic abnormalities, have 100% genomic findings in known and established disease genes (ADAMTSL2, FOXF1, PTPN11 and TPI1 respectively). (b) Sunburst plot representing the smallest subgroup within the study cohort, miscarriages; pregnancy losses before 20 weeks of gestation. This plot shows that there is a 66.7% chance of discovering candidate disease genes (6/9 POS) from early pregnancy loss, with and without congenital abnormalities detected in utero.