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Rigshospitalet - a part of Copenhagen University Hospital
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Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18

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DOI

  1. Genetisk screening af kommende forældre

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

    Research output: Contribution to journalReviewpeer-review

  • Ellen Hollands Steffensen
  • Jonathan Hyett
  • Olav Bjørn Petersen
  • Ida Vogel
  • Danish Cytogenetic Central Registry Study Group
  • Christina Fagerberg (Member of study group)
  • Iben Bache (Member of study group)
  • Jan Frederik Hansen (Member of study group)
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OBJECTIVE: To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first-trimester screening (cFTS) for the trisomies in Denmark in 2004.

METHOD: Cross-sectional, population-based register study employing The Danish Cytogenetic Central Register. Proportions of cases diagnosed 1998-2004 and 2005-2017 were compared before 14 +0 and 22 +0 weeks and birth (prenatal cases) or up to 1 or 10 years of age (postnatal cases).

RESULTS: In total, 4562 cases were included. From 1998-2004 to 2005-2017, the proportion of 22q11.2 deletion cases identified prenatally increased from 4.3% (95% CI: 0.9-12.0%) to 27.3% (21.2-34.0%), while for 22q11.2 duplication an increase from 0/6 to 26/87 (prenatal cases/all cases) was observed. Similarly, proportions of trisomies 21, 13, and 18 detected before birth increased. A greater proportion of the studied conditions was identified earlier in pregnancy, but not generally earlier in the postnatal course.

CONCLUSION: Proportions of 22q11.2 deletion and 22q11.2 duplication identified prenatally increased after introduction of a prenatal screening program not aimed specifically to identify these conditions,. A greater proportion of all cases were detected earlier in pregnancy, but not earlier postnatally, following introduction of screening.

Original languageEnglish
JournalPrenatal Diagnosis
Volume41
Issue number2
Pages (from-to)218-225
Number of pages8
ISSN0197-3851
DOIs
Publication statusPublished - Jan 2021

Bibliographical note

© 2020 John Wiley & Sons Ltd.

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