Journal Mobile Options
Table of Contents
Vol. 32, No. 3, 2012
Issue release date: November 2012
Fetal Diagn Ther 2012;32:166–170
(DOI:10.1159/000338656)

Validation of First Trimester Screening for Trisomy 21 in Singapore with Reference to Performance of Nasal Bone

Yeo G.S.H. · Lai F.-M. · Wei X. · Lata P. · Tan D.T.H. · Yong M.H. · Tan E.T.H. · Kwek K.Y.C.
aDepartment of Maternal Fetal Medicine, bAntenatal Diagnostic Center, and cDepartment of Pathology and Laboratory Medicine, KK Women’s and Children’s Hospital, Singapore, Singapore

Individual Users: Register with Karger Login Information

Please create your User ID & Password





Contact Information











I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Abstract

Introduction: The aim of this study is to describe the performance of first trimester screening (FTS) for trisomy 21 using maternal age, serum biochemistry and fetal nuchal translucency (NT) in a single center and to evaluate the effect of nasal bone on screening performance. Material and Methods: In 12,585 singleton pregnancies, the NT and nasal bone were examined. The majority of these mothers also had their serum biochemical markers analyzed. Risk was computed using different combinations of maternal age, biochemistry, NT and nasal bone. Down syndrome cases were confirmed by karyotyping. Results: There were 12,519 normal pregnancies, 31 with trisomy 21 and 35 with other chromosomal abnormalities. Without considering the nasal bone, the combined FTS detected 87.1% of trisomy 21 fetuses (false positive rate 5.1%), using 1:300 as the risk threshold, and this was further improved to 96.8% with the policy that classifies all fetuses with an absent nasal bone as high risk. Subgroup analysis showed that the detection rate would be 90.9%, with a false positive rate of 3.7%, if nasal bone was incorporated in the risk algorithm, compared to 81.8% and a false positive rate of 5.4% if it was not used. Discussion: FTS is very effective in early detection of trisomy 21 in Singapore. The nasal bone is a useful marker that can substantially improve the screening performance.



Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Nicolaides KH: Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15.
  2. Lai FM, Yeo GS: Down syndrome screening in Singapore – the effectiveness of a second trimester serum screening policy modelled on 29,360 pregnancies in KK Women’s and Children’s Hospital. Singapore Med J 1998;39:69–75.
  3. Bindra R, Heath V, Liao A, Spencer K, Nicolaides KH: One-stop clinic for assessment of risk for trisomy 21 at 11–14 weeks: a prospective study of 15,030 pregnancies. Ultrasound Obstet Gynecol 2002;20:219–225.
  4. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH: A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–237.
  5. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH: UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998;352:343–346.
  6. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K: Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001;358:1665–1667.
  7. Nicolaides KH: Some thoughts on the true value of ultrasound. Ultrasound Obstet Gynecol 2007;30:671–674.

    External Resources

  8. Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004;191:45–67.
  9. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM: First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003;10:56–104.
  10. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D’Alton ME: First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001–2011.
  11. Cicero S, Dezerega V, Andrade E, Scheier M, Nicolaides KH: Learning curve for sonographic examination of the fetal nasal bone at 11–14 weeks. Ultrasound Obstet Gynecol 2003;22:135–137.
  12. Senat MV, Bernard JP, Boulvain M, Ville Y: Intra- and interoperator variability in fetal nasal bone assessment at 11–14 weeks of gestation. Ultrasound Obstet Gynecol 2003;22:138–141.
  13. Sonek JD, Cicero S, Neiger R, Nicolaides KH: Nasal bone assessment in prenatal screening for trisomy 21. Am J Obstet Gynecol 2006;195:1219–1230.
  14. Cicero S, Rembouskos G, Vandecruys H, Hogg M, Nicolaides KH: Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14-week scan. Ultrasound Obstet Gynecol 2004;23:218–223.
  15. Thia EW, Wei X, Tan DT, Lai XH, Zhang XJ, Oo SY, Yeo GS: Evaluation of an objective method of image assessment for first-trimester nasal bone. Ultrasound Obstet Gynecol 2011;38:533–537.
  16. Hecht CA, Hook EB: The imprecision in rates of Down syndrome by 1-year maternal age intervals: a critical analysis of rates used in biochemical screening. Prenat Diagn 1994;14:729–738.
  17. Snijders RJ, Sundberg K, Holzgreve W, Henry G, Nicolaides KH: Maternal age- and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol 1999;13:167–170.


Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50