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Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

2022Journal article Open access
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dc.contributor.authorKucińska-Chahwan, Anna
dc.contributor.authorGeremek, Maciej
dc.contributor.authorRoszkowski, Tomasz
dc.contributor.authorBijok, Julia
dc.contributor.authorMassalska, Diana
dc.contributor.authorCiebiera, Michał
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorPereira-Caetano, Iris
dc.contributor.authorBarreta, Ana
dc.contributor.authorObersztyn, Ewa
dc.contributor.authorKutkowska-Kaźmierczak, Anna
dc.contributor.authorWłasienko, Paweł
dc.contributor.authorKrajewska-Walasek, Małgorzata
dc.contributor.authorWęgrzyn, Piotr
dc.contributor.authorDudarewicz, Lech
dc.contributor.authorKrzeszowski, Waldemar
dc.contributor.authorRybak-Krzyszkowska, Magda
dc.contributor.authorNowakowska, Beata
dc.date.accessioned2023-01-26T15:40:36Z
dc.date.available2023-01-26T15:40:36Z
dc.date.issued2022
dc.descriptionThis article belongs to the Special Issue Novel Insights into Prenatal Genetic Testing.pt_PT
dc.description.abstractBackground: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.pt_PT
dc.description.sponsorshipThis research was funded by the Ministry of Health, granted to the Center of Postgradu- ate Medical Education, Poland, grant number Minigrant-501-1-106-44-20/MG4 to J.B., and by the National Science Centre, Poland, grant number Miniatura 2—Dec2018/02/X/NZ2/00709 to D.M.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGenes (Basel). 2022 Apr 21;13(5):724. doi: 10.3390/genes13050724pt_PT
dc.identifier.doi10.3390/genes13050724pt_PT
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.18/8461
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMPDIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2073-4425/13/5/724pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectPrenatal Diagnosispt_PT
dc.subjectExome Sequencingpt_PT
dc.subjectGenotype–phenotype Correlationpt_PT
dc.subjectFetal Anomaliespt_PT
dc.subjectUltrasoundpt_PT
dc.subjectGenomic Variantpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleImplementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experiencept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue5pt_PT
oaire.citation.startPage724pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume13pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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