Performance of first trimester screening for Trisomy 21 in twin pregnancies

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Eva Bergstrand
  • Caroline Borregaard Miltoft
  • Tabor, Ann

Objectives: To assess the performance of the Danish first trimester screening program in twin pregnancies. Method: Retrospective, nation-wide, cohort study with data collected from the Danish Fetal Medicine Database (DFMD) and The Danish Central Cytogenetic Registry (DCCR). The cohort included all women with twin pregnancies participating in the national first trimester screening program for Trisomy 21. Risk assessment was based on maternal age, nuchal translucency (NT) thickness and, if available, biochemical markers (β-hCG and PAPP-A). Results: 8812 twin pregnancies including 42 pregnancies with Trisomy 21 had a risk assessment between 2009 and 2017. The detection rate (DR) for pregnancies with a risk assessment based on maternal age and NT only (missing data on biochemical markers, n = 4693) was 69.6% (95% CI: 50.8%-88.4%) for a 6.3% false positive rate (FPR) (95% CI: 5.6%-7.0%), whereas for pregnancies with a risk assessment based on all three parameters (n = 4119) the DR was 89.5% (95% CI: 76.7%-100.0%) for a 7.2% FPR (95% CI: 6.4%-8.0%). Conclusion: The DR of Trisomy 21 in twin pregnancies, seems as high as for singleton pregnancies, when using optimal screening techniques, but the FPR is nearly twice as high.

OriginalsprogEngelsk
TidsskriftPrenatal Diagnosis
Vol/bind41
Udgave nummer2
Sider (fra-til)210-217
Antal sider8
ISSN0197-3851
DOI
StatusUdgivet - 2021

Bibliografisk note

Funding Information:
We gratefully acknowledge the effort of specialists in fetal medicine and sonographers for contributing data to the Danish Fetal Medicine Database. We especially want to thank: Katrin L?ser, Department of Gynacology and Obstetrics, Aabenraa Hospital, Aabenraa; Eva Hoseth, Department of Gynaecology and Obstetrics, Aalborg University Hospital, Aalborg; Olav B Petersen, Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus; Finn S. J?rgensen, Fetal Medicine Unit, Department of Gynaecology and Obstetrics, Copenhagen University Hospital Hvidovre, Copenhagen; Mette Holm Ibsen, Department of Gynecology and Obstetrics, Esbjerg Hospital, Esbjerg; Helle Zingenberg, Department of Gynaecology and Obstetrics, Herlev Hospital, Herlev; Hanne S?ndergaard Jensen, Department of Gynecology and Obstetrics, Herning Hospital, Herning; Pernille N?rgaard, Department of Gynecology and Obstetrics, Nordsjaellands Hospital, Hilleroed; Gitte St?rup, Department of Gynaecology and Obstetrics, Hjoerring Hospital, Hjoerring; Lone Krebs, Department of Gynaecology and Obstetrics, Holbaek Hospital, Holbaek; Steffen Sommer, Department of Gynaecology and Obstetrics, Horsens Hospital, Horsens; Annemette Wildfang Lykkebo, Department of Gynaecology and Obstetrics, Kolding Hospital, Kolding; Mette Hvilsh?j Fabricius, Department of Gynecology and Obstetrics, Naestved Hospital, Naestved; Lene Sperling, Department of Gynaecology and Obstetrics, Odense University Hospital, Odense; Marianne ?stergaard, Department of Gynecology and Obstetrics, Randers Hospital, Randers; Lillian Skibsted, Department of Gynaecology and Obstetrics, Roskilde Hospital, Roskilde and Sonja Kindt, Department of Gynecology and Obstetrics, Viborg Hospital, Viborg; A special thanks is given to the Danish Central Cytogenetic Registry for providing additional data on Trisomy 21 cases. We are grateful to Professor David Wright, University of Exeter, for providing help with elaborating the Methods section, especially regarding the Astraia software.

Publisher Copyright:
© 2020 John Wiley & Sons Ltd

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