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Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation

  1. K. O. Kagan1,3,
  2. C. Valencia1,
  3. P. Livanos1,
  4. D. Wright2,
  5. K. H. Nicolaides1,*

Article first published online: 21 NOV 2008

DOI: 10.1002/uog.6264

Issue

Ultrasound in Obstetrics & Gynecology

Ultrasound in Obstetrics & Gynecology

Volume 33, Issue 1, pages 18–22, January 2009

Additional Information

How to Cite

Kagan, K. O., Valencia, C., Livanos, P., Wright, D. and Nicolaides, K. H. (2009), Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound in Obstetrics & Gynecology, 33: 18–22. doi: 10.1002/uog.6264

Author Information

  1. 1

    Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK

  2. 2

    Department of Mathematics and Statistics, University of Plymouth, Plymouth, UK

  3. 3

    Department of Obstetrics and Gynaecology, University of Tuebingen, Tuebingen, Germany

*Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London SE5 9RS, UK

Publication History

  1. Issue published online: 23 DEC 2008
  2. Article first published online: 21 NOV 2008
  3. Manuscript Accepted: 19 SEP 2008

Funded by

  • Fetal Medicine Foundation. Grant Number: 1037116

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Keywords:

  • first-trimester screening;
  • free β-hCG;
  • nuchal translucency;
  • PAPP-A;
  • tricuspid regurgitation;
  • trisomy 21

Abstract

Objective

To investigate the performance of first-trimester screening for aneuploidies by including assessment of tricuspid blood flow in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A).

Method

Screening by the combined test was performed in singleton pregnancies, including 19 614 with chromosomally normal fetuses or the delivery of a phenotypically normal baby (euploid group), 122 with trisomy 21, 36 with trisomy 18, 20 with trisomy 13 and eight with Turner syndrome. In all cases tricuspid flow was assessed to determine if there was tricuspid regurgitation. We examined the performance of two screening strategies: firstly, assessment of tricuspid flow in all patients and secondly, first-stage screening using the combined test in all patients followed by second-stage assessment of tricuspid flow only in those with an intermediate risk of 1 in 51 to 1 in 1000 after the first stage.

Results

Tricuspid regurgitation was observed in 0.9% of the euploid fetuses and 55.7%, 33.3% and 30% of the fetuses with trisomies 21, 18 and 13, respectively, and in 37.5% of those with Turner syndrome. In a screening policy based on maternal age, fetal NT, FHR, serum free β-hCG and PAPP-A, for a fixed false positive rate of 3% the standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome. Assessment of tricuspid flow in all pregnancies would increase the detection rate of trisomy 21 to 96%, and the detection rates of trisomy 18, trisomy 13 and Turner syndrome would be 92%, 100% and 100%, respectively. The same detection rates were achieved with the two-stage strategy—in which it was necessary to assess tricuspid flow in only 15% of the total population—at a false positive rate of 2.4%.

Conclusions

Assessment of tricuspid flow improves the performance of first-trimester screening for trisomy 21. Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.

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