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Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies
With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a seque...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690018/ https://www.ncbi.nlm.nih.gov/pubmed/36360323 http://dx.doi.org/10.3390/genes13112088 |
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author | So, Po Lam Hui, Annie Shuk Yi Ma, Teresa Wei Ling Shu, Wendy Hui, Amelia Pui Wah Kong, Choi Wah Lo, Tsz Kin Kan, Amanda Nim Chi Kan, Elaine Yee Ling Chong, Shuk Ching Chung, Brian Hon Yin Luk, Ho Ming Choy, Kwong Wai Kan, Anita Sik Yau Leung, Wing Cheong |
author_facet | So, Po Lam Hui, Annie Shuk Yi Ma, Teresa Wei Ling Shu, Wendy Hui, Amelia Pui Wah Kong, Choi Wah Lo, Tsz Kin Kan, Amanda Nim Chi Kan, Elaine Yee Ling Chong, Shuk Ching Chung, Brian Hon Yin Luk, Ho Ming Choy, Kwong Wai Kan, Anita Sik Yau Leung, Wing Cheong |
author_sort | So, Po Lam |
collection | PubMed |
description | With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13–31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service. |
format | Online Article Text |
id | pubmed-9690018 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96900182022-11-25 Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies So, Po Lam Hui, Annie Shuk Yi Ma, Teresa Wei Ling Shu, Wendy Hui, Amelia Pui Wah Kong, Choi Wah Lo, Tsz Kin Kan, Amanda Nim Chi Kan, Elaine Yee Ling Chong, Shuk Ching Chung, Brian Hon Yin Luk, Ho Ming Choy, Kwong Wai Kan, Anita Sik Yau Leung, Wing Cheong Genes (Basel) Article With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13–31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service. MDPI 2022-11-10 /pmc/articles/PMC9690018/ /pubmed/36360323 http://dx.doi.org/10.3390/genes13112088 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article So, Po Lam Hui, Annie Shuk Yi Ma, Teresa Wei Ling Shu, Wendy Hui, Amelia Pui Wah Kong, Choi Wah Lo, Tsz Kin Kan, Amanda Nim Chi Kan, Elaine Yee Ling Chong, Shuk Ching Chung, Brian Hon Yin Luk, Ho Ming Choy, Kwong Wai Kan, Anita Sik Yau Leung, Wing Cheong Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title | Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title_full | Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title_fullStr | Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title_full_unstemmed | Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title_short | Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies |
title_sort | implementation of public funded genome sequencing in evaluation of fetal structural anomalies |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690018/ https://www.ncbi.nlm.nih.gov/pubmed/36360323 http://dx.doi.org/10.3390/genes13112088 |
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