Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clinical Genetics, Erasmus MC, Wytemaweg 50, Rotterdam, th...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2023-05-01
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| Series: | The Application of Clinical Genetics |
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| Online Access: | https://www.dovepress.com/challenges-and-pragmatic-solutions-in-pre-test-and-post-test-genetic-c-peer-reviewed-fulltext-article-TACG |
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| author | Diderich KEM Klapwijk JE van der Schoot V Brüggenwirth HT Joosten M Srebniak MI |
| author_facet | Diderich KEM Klapwijk JE van der Schoot V Brüggenwirth HT Joosten M Srebniak MI |
| author_sort | Diderich KEM |
| collection | DOAJ |
| description | Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clinical Genetics, Erasmus MC, Wytemaweg 50, Rotterdam, the Netherlands, Tel +31 10 70 43214, Email k.diderich@erasmusmc.nlAbstract: The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage challenging findings such as variants of unknown significance (VUS) and incidental findings (IF) also increased. We have summarized the current guidelines and recommendations and we have shown current solutions used in our tertiary center in the Netherlands. We discuss four of the most common clinical situations: fetus with normal pES results, fetus with a pathogenic finding explaining the fetal phenotype, fetus with a variant of uncertain clinical significance fitting the phenotype and fetus with a variant leading to an incidental diagnosis. Additionally, we reflect on solutions in order to facilitate genetic counseling in an NGS-era.Keywords: exome sequencing, genetic counseling, prenatal diagnosis, incidental findings, variants of unknown significance, VUS, IF |
| first_indexed | 2024-03-13T11:00:53Z |
| format | Article |
| id | doaj.art-e217832f10294bf7a9d05ec4bd86de1f |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-03-13T11:00:53Z |
| publishDate | 2023-05-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-e217832f10294bf7a9d05ec4bd86de1f2023-05-16T19:06:18ZengDove Medical PressThe Application of Clinical Genetics1178-704X2023-05-01Volume 16899783750Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome SequencingDiderich KEMKlapwijk JEvan der Schoot VBrüggenwirth HTJoosten MSrebniak MIKarin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clinical Genetics, Erasmus MC, Wytemaweg 50, Rotterdam, the Netherlands, Tel +31 10 70 43214, Email k.diderich@erasmusmc.nlAbstract: The yield of genetic prenatal diagnosis has been notably improved by introducing whole genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However, together with increased numbers of diagnoses made, the need to manage challenging findings such as variants of unknown significance (VUS) and incidental findings (IF) also increased. We have summarized the current guidelines and recommendations and we have shown current solutions used in our tertiary center in the Netherlands. We discuss four of the most common clinical situations: fetus with normal pES results, fetus with a pathogenic finding explaining the fetal phenotype, fetus with a variant of uncertain clinical significance fitting the phenotype and fetus with a variant leading to an incidental diagnosis. Additionally, we reflect on solutions in order to facilitate genetic counseling in an NGS-era.Keywords: exome sequencing, genetic counseling, prenatal diagnosis, incidental findings, variants of unknown significance, VUS, IFhttps://www.dovepress.com/challenges-and-pragmatic-solutions-in-pre-test-and-post-test-genetic-c-peer-reviewed-fulltext-article-TACGexome sequencinggenetic counselingprenatal diagnosisincidental findingsvariants of unknown significance |
| spellingShingle | Diderich KEM Klapwijk JE van der Schoot V Brüggenwirth HT Joosten M Srebniak MI Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing The Application of Clinical Genetics exome sequencing genetic counseling prenatal diagnosis incidental findings variants of unknown significance |
| title | Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing |
| title_full | Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing |
| title_fullStr | Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing |
| title_full_unstemmed | Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing |
| title_short | Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing |
| title_sort | challenges and pragmatic solutions in pre test and post test genetic counseling for prenatal exome sequencing |
| topic | exome sequencing genetic counseling prenatal diagnosis incidental findings variants of unknown significance |
| url | https://www.dovepress.com/challenges-and-pragmatic-solutions-in-pre-test-and-post-test-genetic-c-peer-reviewed-fulltext-article-TACG |
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