A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

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  • Dorte Launholt Lildballe
  • Naja Becher
  • Else Marie Vestergaard
  • Rikke Christensen
  • Stina Lou
  • Puk Sandager
  • Lars Henning Pedersen
  • Kasper Gadsbøll
  • Petersen, Olav Bennike Bjørn
  • Ida Vogel

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.

Original languageEnglish
JournalActa Obstetricia et Gynecologica Scandinavica
Volume102
Issue number11
Pages (from-to)1505-1510
ISSN0001-6349
DOIs
Publication statusPublished - 2023

Bibliographical note

Funding Information:
IV and SL are supported by a grant from the Novo Nordisk Foundation (NNF16OC0018772, grant holder: Ida Vogel). OBP holds a professorship funded by Novo Nordisk Foundation (grant NNFSA170030576). LHP is supported by Novo Nordisk Foundation (NNF18OC0054457).

Publisher Copyright:
© 2023 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).

    Research areas

  • chromosomal aberrations, chromosomal microarray, clinical laboratory techniques, copy number variation, interdisciplinary communication, prenatal diagnosis, prenatal screening

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