A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018
Abstract Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasing number of pregnancies and without a transition pe...
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Wiley
2023-11-01
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| Series: | Acta Obstetricia et Gynecologica Scandinavica |
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| Online Access: | https://doi.org/10.1111/aogs.14631 |
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| author | Dorte Launholt Lildballe Naja Becher Else Marie Vestergaard Rikke Christensen Stina Lou Puk Sandager Lars Henning Pedersen Kasper Gadsbøll Olav Bjørn Petersen Ida Vogel |
| author_facet | Dorte Launholt Lildballe Naja Becher Else Marie Vestergaard Rikke Christensen Stina Lou Puk Sandager Lars Henning Pedersen Kasper Gadsbøll Olav Bjørn Petersen Ida Vogel |
| author_sort | Dorte Launholt Lildballe |
| collection | DOAJ |
| description | Abstract Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasing number of pregnancies and without a transition period where both karyotyping and chromosomal microarray were performed: first malformations (2011), then large nuchal translucency (2013), then high risk at combined first trimester risk screening (2016) and finally for all indications (2018). This retrospective study summarizes 11 years of using chromosomal microarray in invasive prenatal testing and presents the effect on diagnostic yield and turnaround time. Furthermore, the concerns when introducing chromosomal microarray are presented and discussed. Material and methods Registry data from the Danish Fetal Medicine Database, the regional fetal medicine database, the Danish Cytogenetic Central Register and the local laboratory database at Department of Clinical Genetics were all combined, and a cohort of 147 158 singleton pregnancies with at least one ultrasound examination was established Results Of the 147 158 pregnancies, invasive sampling was performed (chorionic villi or amniocytes) in 8456, corresponding to an overall invasive rate of 5.8%. Between 2016 and 2018, 3.4% (95% confidence interval [CI] 2.8–4.2%; n = 86) of the invasive samples (n = 2533) had a disease causing copy number variant and 5.3% (95% CI 4.4–6.2%; n = 133) had trisomies and other aneuploidies. The turnaround time more than halved from 14 days to an average of 5.5 days for chorionic villus sampling. Conclusions Chromosomal microarray identified 5.3% trisomies and 3.4% copy number variants, thereby increased the diagnostic yield by more than 64% compared with karyotype only and it also more than halved the turnaround time. Some preliminary concerns proved real, eg prenatal counseling complexity, but these have been resolved over time in a clinical path with expert consultations. |
| format | Article |
| id | doaj-art-d46fec2a4cb24f598531c5586612eaee |
| institution | OA Journals |
| issn | 0001-6349 1600-0412 |
| language | English |
| publishDate | 2023-11-01 |
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| series | Acta Obstetricia et Gynecologica Scandinavica |
| spelling | doaj-art-d46fec2a4cb24f598531c5586612eaee2025-08-20T02:36:28ZengWileyActa Obstetricia et Gynecologica Scandinavica0001-63491600-04122023-11-01102111505151010.1111/aogs.14631A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018Dorte Launholt Lildballe0Naja Becher1Else Marie Vestergaard2Rikke Christensen3Stina Lou4Puk Sandager5Lars Henning Pedersen6Kasper Gadsbøll7Olav Bjørn Petersen8Ida Vogel9Department of Molecular Medicine Aarhus University Hospital Aarhus DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Aarhus DenmarkDepartment of Clinical Biochemistry Regional Hospital Horsens Horsens DenmarkDepartment of Clinical Genetics Aarhus University Hospital Aarhus DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Aarhus DenmarkCenter for Fetal Diagnostics, Department of Clinical Medicine Aarhus University Aarhus DenmarkDepartment of Clinical Medicine Aarhus University Aarhus DenmarkCenter for Fetal Medicine, Pregnancy and Ultrasound, Department of Obstetrics Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkCenter for Fetal Medicine, Pregnancy and Ultrasound, Department of Obstetrics Copenhagen University Hospital, Rigshospitalet Copenhagen DenmarkDepartment of Molecular Medicine Aarhus University Hospital Aarhus DenmarkAbstract Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasing number of pregnancies and without a transition period where both karyotyping and chromosomal microarray were performed: first malformations (2011), then large nuchal translucency (2013), then high risk at combined first trimester risk screening (2016) and finally for all indications (2018). This retrospective study summarizes 11 years of using chromosomal microarray in invasive prenatal testing and presents the effect on diagnostic yield and turnaround time. Furthermore, the concerns when introducing chromosomal microarray are presented and discussed. Material and methods Registry data from the Danish Fetal Medicine Database, the regional fetal medicine database, the Danish Cytogenetic Central Register and the local laboratory database at Department of Clinical Genetics were all combined, and a cohort of 147 158 singleton pregnancies with at least one ultrasound examination was established Results Of the 147 158 pregnancies, invasive sampling was performed (chorionic villi or amniocytes) in 8456, corresponding to an overall invasive rate of 5.8%. Between 2016 and 2018, 3.4% (95% confidence interval [CI] 2.8–4.2%; n = 86) of the invasive samples (n = 2533) had a disease causing copy number variant and 5.3% (95% CI 4.4–6.2%; n = 133) had trisomies and other aneuploidies. The turnaround time more than halved from 14 days to an average of 5.5 days for chorionic villus sampling. Conclusions Chromosomal microarray identified 5.3% trisomies and 3.4% copy number variants, thereby increased the diagnostic yield by more than 64% compared with karyotype only and it also more than halved the turnaround time. Some preliminary concerns proved real, eg prenatal counseling complexity, but these have been resolved over time in a clinical path with expert consultations.https://doi.org/10.1111/aogs.14631chromosomal aberrationschromosomal microarrayclinical laboratory techniquescopy number variationinterdisciplinary communicationprenatal diagnosis |
| spellingShingle | Dorte Launholt Lildballe Naja Becher Else Marie Vestergaard Rikke Christensen Stina Lou Puk Sandager Lars Henning Pedersen Kasper Gadsbøll Olav Bjørn Petersen Ida Vogel A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 Acta Obstetricia et Gynecologica Scandinavica chromosomal aberrations chromosomal microarray clinical laboratory techniques copy number variation interdisciplinary communication prenatal diagnosis |
| title | A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 |
| title_full | A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 |
| title_fullStr | A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 |
| title_full_unstemmed | A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 |
| title_short | A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 |
| title_sort | decade of change lessons learned from prenatal diagnostics in central denmark region in 2008 2018 |
| topic | chromosomal aberrations chromosomal microarray clinical laboratory techniques copy number variation interdisciplinary communication prenatal diagnosis |
| url | https://doi.org/10.1111/aogs.14631 |
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