Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
Background: 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 phe...
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| Language: | English |
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MDPI AG
2022-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/5/724 |
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| author | Anna Kucińska-Chahwan Maciej Geremek Tomasz Roszkowski Julia Bijok Diana Massalska Michał Ciebiera Hildeberto Correia Iris Pereira-Caetano Ana Barreta Ewa Obersztyn Anna Kutkowska-Kaźmierczak Paweł Własienko Małgorzata Krajewska-Walasek Piotr Węgrzyn Lech Dudarewicz Waldemar Krzeszowski Magda Rybak-Krzyszkowska Beata Nowakowska |
| author_facet | Anna Kucińska-Chahwan Maciej Geremek Tomasz Roszkowski Julia Bijok Diana Massalska Michał Ciebiera Hildeberto Correia Iris Pereira-Caetano Ana Barreta Ewa Obersztyn Anna Kutkowska-Kaźmierczak Paweł Własienko Małgorzata Krajewska-Walasek Piotr Węgrzyn Lech Dudarewicz Waldemar Krzeszowski Magda Rybak-Krzyszkowska Beata Nowakowska |
| author_sort | Anna Kucińska-Chahwan |
| collection | DOAJ |
| description | Background: 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. |
| first_indexed | 2024-03-10T03:50:46Z |
| format | Article |
| id | doaj.art-ec4a375bb58445a6a9376c60e8f8aa33 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T03:50:46Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-ec4a375bb58445a6a9376c60e8f8aa332023-11-23T11:08:28ZengMDPI AGGenes2073-44252022-04-0113572410.3390/genes13050724Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish ExperienceAnna Kucińska-Chahwan0Maciej Geremek1Tomasz Roszkowski2Julia Bijok3Diana Massalska4Michał Ciebiera5Hildeberto Correia6Iris Pereira-Caetano7Ana Barreta8Ewa Obersztyn9Anna Kutkowska-Kaźmierczak10Paweł Własienko11Małgorzata Krajewska-Walasek12Piotr Węgrzyn13Lech Dudarewicz14Waldemar Krzeszowski15Magda Rybak-Krzyszkowska16Beata Nowakowska17Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Obstetrics and Gynecology, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Gynecology Oncology and Obstetrics, Center of Postgraduate Medical Education, 01-809 Warsaw, PolandDepartment of Gynecology Oncology and Obstetrics, Center of Postgraduate Medical Education, 01-809 Warsaw, PolandSecond Department of Obstetrics and Gynecology, Center of Postgraduate Medical Education, 01-809 Warsaw, PolandCytogenetics Unit, Department of Human Genetics, Nacional Health Institute Doutor Ricardo Jorge, 1649-016 Lisbon, PortugalMolecular Genetics Unit, Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, 1649-016 Lisbon, PortugalMedical Genetics Service, Joaquim Chaves Saúde, 1495-148 Oeiras, PortugalDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, PolandDepartment of Obstetrics, Perinatology and Gynaecology, Medical University of Warsaw, 02-097 Warsaw, PolandDepartment of Genetics, Polish Mother’s Memorial Hospital-Research Institute, 93-338 Lodz, PolandDepartment of Perinatology and Gynecology, Polish Mother’s Memorial Hospital Research Institute, 93-338 Lodz, PolandDepartment of Obstetrics and Perinatology, University Hospital in Krakow, 31-501 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandBackground: 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.https://www.mdpi.com/2073-4425/13/5/724fetal anomaliesprenatal diagnosisultrasoundexome sequencinggenomic variantgenotype–phenotype correlation |
| spellingShingle | Anna Kucińska-Chahwan Maciej Geremek Tomasz Roszkowski Julia Bijok Diana Massalska Michał Ciebiera Hildeberto Correia Iris Pereira-Caetano Ana Barreta Ewa Obersztyn Anna Kutkowska-Kaźmierczak Paweł Własienko Małgorzata Krajewska-Walasek Piotr Węgrzyn Lech Dudarewicz Waldemar Krzeszowski Magda Rybak-Krzyszkowska Beata Nowakowska Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience Genes fetal anomalies prenatal diagnosis ultrasound exome sequencing genomic variant genotype–phenotype correlation |
| title | Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience |
| title_full | Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience |
| title_fullStr | Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience |
| title_full_unstemmed | Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience |
| title_short | Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience |
| title_sort | implementation of exome sequencing in prenatal diagnosis and impact on genetic counseling the polish experience |
| topic | fetal anomalies prenatal diagnosis ultrasound exome sequencing genomic variant genotype–phenotype correlation |
| url | https://www.mdpi.com/2073-4425/13/5/724 |
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