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. 2022 Jul 29;7:45. doi: 10.1038/s41525-022-00316-x

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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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Fig. 5 — Frequency of at-risk couples and risk-reduction potential for NDDs according to a stepwise addition of the variant classification groups (1–14) are shown for nonconsanguineous and consanguineous couples for carrier screening for each of the 4-tiers recommended by the American College of Medical Genetics and Genomics (ACMG). In this carrier screening, Tier-1 includes screening of CFTR, SMN1 and medically and family-based risk genes, Tier-2 includes Tier-1 plus genes with carrier frequency ≥ 1/100, Tier-3 includes Tier-2 plus genes with carrier frequency ≥ 1/200 as well as X-linked conditions, and Tier-4 includes Tier-3 plus genes with carrier frequency < 1/200.