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. 2022 Mar 21;7:23. doi: 10.1038/s41525-022-00287-z

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© The Author(s) 2022

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. 1 — The figure shows the incremental benefits of using an ECS panel. The first tier of carrier screening includes α-thalassaemia and β-thalassaemia with 3.31% of individuals identified as carriers. This is based on Hong Kong’s current antenatal screening guidelines. The second tier includes the pan-ethnic carrier screening disease conditions recommended by ACOG which accumulates spinal muscular atrophy and cystic fibrosis. Using these criteria, 4.73% of individuals were identified as carriers. The third tier is based on the 2017 ACOG guidelines on ECS with a cut-off of 1 in 100. Using these criteria, 35.5% of individuals were identified as carriers. Mutations in GJB2 were the most common, with a carrier rate of 24.5% in the Southern Chinese population (1 in 4 individuals). The fourth tier is a screening cut-off of 1 in 200, 38.7% of individuals were identified as carriers. Within this study, 47.8% of 1543 individuals were carriers of one or more recessive disease conditions.