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Article: Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

TitleEvaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
Authors
Keywordsbalanced chromosomal abnormalities
prenatal diagnosis
genome sequencing
long read sequencing
karyotype
Issue Date2021
PublisherFrontiers Research Foundation. The Journal's web site is located at http://www.frontiersin.org/genetics
Citation
Frontiers in Genetics, 2021, v. 11, p. article no. 620162 How to Cite?
AbstractBalanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1 in 500 newborns and are associated with an increased risk of multiple congenital anomalies and/or neurodevelopmental disorders, especially if it is a de novo mutation. In this pilot project, we used short read genome sequencing (GS) to retrospectively re-sequence ten prenatal subjects with de novo BCAs and compared the performance of GS with the original karyotyping. GS characterized all BCAs found by conventional karyotyping with the added benefit of precise sub-band delineation. By identifying BCA breakpoints at the nucleotide level using GS, we found disruption of OMIM genes in three cases and identified cryptic gain/loss at the breakpoints in two cases. Of these five cases, four cases reached a definitive genetic diagnosis while the other one case had a BCA interpreted as unknown clinical significance. The additional information gained from GS can change the interpretation of the BCAs and has the potential to improve the genetic counseling and perinatal management by providing a more specific genetic diagnosis. This demonstrates the added clinical utility of using GS for the diagnosis of BCAs.
Persistent Identifierhttp://hdl.handle.net/10722/295742
ISSN
2018 Impact Factor: 3.517
2015 SCImago Journal Rankings: 1.979
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYU, MHC-
dc.contributor.authorCHAU, JFT-
dc.contributor.authorAu, SLK-
dc.contributor.authorLo, HM-
dc.contributor.authorYeung, KS-
dc.contributor.authorFung, JLF-
dc.contributor.authorMak, CCY-
dc.contributor.authorCHUNG, CCY-
dc.contributor.authorChan, KYK-
dc.contributor.authorChung, BHY-
dc.contributor.authorKan, ASY-
dc.date.accessioned2021-02-08T08:13:21Z-
dc.date.available2021-02-08T08:13:21Z-
dc.date.issued2021-
dc.identifier.citationFrontiers in Genetics, 2021, v. 11, p. article no. 620162-
dc.identifier.issn1664-8021-
dc.identifier.urihttp://hdl.handle.net/10722/295742-
dc.description.abstractBalanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1 in 500 newborns and are associated with an increased risk of multiple congenital anomalies and/or neurodevelopmental disorders, especially if it is a de novo mutation. In this pilot project, we used short read genome sequencing (GS) to retrospectively re-sequence ten prenatal subjects with de novo BCAs and compared the performance of GS with the original karyotyping. GS characterized all BCAs found by conventional karyotyping with the added benefit of precise sub-band delineation. By identifying BCA breakpoints at the nucleotide level using GS, we found disruption of OMIM genes in three cases and identified cryptic gain/loss at the breakpoints in two cases. Of these five cases, four cases reached a definitive genetic diagnosis while the other one case had a BCA interpreted as unknown clinical significance. The additional information gained from GS can change the interpretation of the BCAs and has the potential to improve the genetic counseling and perinatal management by providing a more specific genetic diagnosis. This demonstrates the added clinical utility of using GS for the diagnosis of BCAs.-
dc.languageeng-
dc.publisherFrontiers Research Foundation. The Journal's web site is located at http://www.frontiersin.org/genetics-
dc.relation.ispartofFrontiers in Genetics-
dc.rightsThis Document is Protected by copyright and was first published by Frontiers. All rights reserved. It is reproduced with permission.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectbalanced chromosomal abnormalities-
dc.subjectprenatal diagnosis-
dc.subjectgenome sequencing-
dc.subjectlong read sequencing-
dc.subjectkaryotype-
dc.titleEvaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis-
dc.typeArticle-
dc.identifier.emailAu, SLK: alkuen@hku.hk-
dc.identifier.emailLo, HM: hmlo17@hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailKan, ASY: kansya@hkucc.hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3389/fgene.2020.620162-
dc.identifier.pmid33584815-
dc.identifier.pmcidPMC7873444-
dc.identifier.hkuros321154-
dc.identifier.volume11-
dc.identifier.spagearticle no. 620162-
dc.identifier.epagearticle no. 620162-
dc.identifier.isiWOS:000616512200001-
dc.publisher.placeSwitzerland-

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