Download PDF
Ultraschall Med 2010; 31(2): 144-150
DOI: 10.1055/s-0028-1109702
Übersicht/Review

© Georg Thieme Verlag KG Stuttgart · New York

Nuchal Translucency and Fetal Cardiac Malformations

Nackentransparenz und angeborene HerzfehlerR. Axt-Fliedner1 , U. Gembruch2
  • 1Department of OB&GYN, University of Gießen and Marburg, Division of Prenatal Medicine
  • 2Department of OB&GYN, University of Bonn, Division of Prenatal Medicine
Further Information

Publication History

received: 4.9.2008

accepted: 10.7.2009

Publication Date:
21 January 2010 (online)

Also available at
    Permissions and Reprints

Zusammenfassung

Dieser Review fasst den aktuellen Stand zum Thema Nackentransparenz und angeborene Herzfehler zusammen

Abstract

This review summarizes the current data regarding the relationship between nuchal translucency and congenital heart disease.

Key words

heart - echocardiography - ultrasound - screening

References

  • 1 Hoffman J I, Kaplan S. The incidence of congenital heart disease.  J Am Coll Cardiol. 2002;  39 1890-1900
    Google Scholar
  • 2 Loffredo C A. Epidemiology of cardiovascular malformations: prevalence and risk factors.  Am J Med Genet. 2000;  97 319-325
    Google Scholar
  • 3 Copel J A, Pilu G, Kleinmann C S. Congenital heart disease and extra-cardiac anomalies: associations and indications for fetal echocardiography.  Am J Obstet Gynecol. 1986;  154 1121-1132
    Google Scholar
  • 4 Yates R WM. Cardiac abnormalities and their association with aneuploidy.  Prenat Diagn. 1999;  19 542-545
    Google Scholar
  • 5 Hyett J A, Perdu M, Sharland G K. et al . Increased nuchal translucency at 10 – 14 weeks of gestation as a marker for major cardiac defects.  Ultrasound Obstet Gynecol. 1997;  10 242-246
    Google Scholar
  • 6 Hyett J A, Perdu M, Sharland G K. et al . Using fetal nuchal translucency to screen for major congenital cardiac defects at 10 – 14 weeks of gestation: population based cohort study.  BMJ. 1999;  318 81-85
    Google Scholar
  • 7 Hyett J A. Increased nuchal translucency in fetuses with a normal karyotype.  Prenatal Diagnosis. 2002;  22 864-868
    Google Scholar
  • 8 Yagel S, Weissman A, Rotstein Z. et al . Congenital heart defects: natural course and in utero development.  Circulation. 1997;  96 550-555
    Google Scholar
  • 9 Gembruch U. Prenatal diagnosis of congenital heart disease.  Prenat Diagn. 1997;  17 1283-1297
    Google Scholar
  • 10 Westin M, Saltvedt S, Bergman G. et al . Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16 383 fetuses.  Ultrasound Obstet Gynecol. 2006;  27 632-639
    Google Scholar
  • 11 Westin M, Saltvedt S, Bergman G. et al . Routine ultrasound examination at 12 or 18 gestational weeks for prenatal detection of major congenital heart malformations? A randomised controlled trial comprising 36 299 fetuses.  BJOG. 2006;  113 675-682
    Google Scholar
  • 12 Schwärzler P, Carvalho J S, Senat M V. et al . Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10 – 14 weeks of gestation as part of routine antenatal care in an unselected population.  Br J Obstet Gynaecol. 1999;  106 1029-1034
    Google Scholar
  • 13 Mavrides E, Cobian-Sanchez F, Tekay A. et al . Limitations of using first-trimester nuchal translucency measurement in routine screening for major congenital heart defects.  Ultrasound Obstet Gynecol. 2001;  17 106-110
    Google Scholar
  • 14 Josefsson A, Molander E, Selbing A. Nuchal translucency as a screening test for chromosomal abnormalities in a routine first trimester ultrasound examination.  Acta Obstet Gynecol Scand. 1998;  77 497-499
    Google Scholar
  • 15 Zosmer N, Souter V L, Chan C SY. et al . Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency.  BJOG. 1999;  106 829-833
    Google Scholar
  • 16 Ghi T, Huggon I C, Zosmer N. et al . Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype.  Ultrasound Obstet Gynecol. 2001;  18 610-614
    Google Scholar
  • 17 Michailidis G D, Economides D L. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses.  Ultrasound Obstet Gynecol. 2001;  17 102-105
    Google Scholar
  • 18 Haak M C, Bartelings M M, De Gittenberger-Groot A C. et al . Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and post-mortem morphology.  Ultrasound Obstet Gynecol. 2002;  20 14-21
    Google Scholar
  • 19 Orvos H, Wayda K, Kozinszky Z. et al . Increased nuchal translucency and congenital heart defects in euploid fetuses. The Szeged experience.  Eur J Obstet Gynecol Reprod Biol. 2002;  101 124-128
    Google Scholar
  • 20 Makrymidas G, Sotiriadis A, Ioannidis J PA. Screening performance of first-trimester nuchal translucency for major cardiac defects: A meta-analysis.  Am J Obstet Gynecol. 2003;  189 1330-1335
    Google Scholar
  • 21 Makrydimas G, Sotiriadis A, Huggon I C. et al . Nuchal translucency and fetal cardiac defects: A pooled analysis of major fetal echocardiography centers.  Am J Obstet Gynecol. 2005;  192 89-95
    Google Scholar
  • 22 Hafner E, Schuller T, Metzenbauer M. et al . Increased nuchal translucency and congenital heart defects in a low-risk population.  Prenat Diagn. 2003;  23 985-989
    Google Scholar
  • 23 McAuliffe F M, Trines J, Nield L E. et al . Early fetal echocardiography – A reliable prenatal diagnosis tool.  Am J Obstet Gynecol. 2005;  193 1253-1259
    Google Scholar
  • 24 Simpson L L, Malone F, Bianchi D. et al . Nuchal translucency and the risk of congenital heart disease.  Obstet Gynecol. 2007;  109 376-383
    Google Scholar
  • 25 Müller M A, Clur S A, Timmerman E. et al . Nuchal translucency measurement and congenital heart defects: modest association in low-risk pregnancies.  Prenat Diagn. 2007;  27 164-169
    Google Scholar
  • 26 Atzei A, Gajewska K, Huggon I C. et al . Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.  Ultrasound Obstet Gynecol. 2005;  26 154-157
    Google Scholar
  • 27 Huggon I C, Ghi T, Cook A C. et al . Fetal cardiac abnormalities identified prior to 14 weeks’ gestation.  Ultrasound Obstet Gynecol. 2002;  20 22-29
    Google Scholar
  • 28 Lopes L M, Brizot M L, Lopes M AB. et al . Structural and functional cardiac abnormalities identified prior to 16 weeks’ gestation in fetuses with increased nuchal translucency.  Ultrasound Obstet Gynecol. 2003;  22 470-478
    Google Scholar
  • 29 Becker R, Wegner R D. Detailed screening for fetal anomalies and cardiac defects at 11–13-week scan.  Ultrasound Obstet Gynecol. 2006;  27 613-618
    Google Scholar
  • 30 Allan L. The mystery of nuchal translucency.  Cardiol Young. 2006;  16 11-17
    Google Scholar
  • 31 Axt-Fliedner R, Chiriac A, Hartge D. et al . Fetal cardiac abnormalities identified prior to 14 weeks’ gestation.  Ultrasound Obstet Gynecol. 2008;  32 OP08.03: 333
    Google Scholar
  • 32 Clur S A, Mathijssen I B, Pajkrt E. et al . Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre.  Prenat Diagn. 2008;  28 347-354
    Google Scholar
  • 33 Simpson J M, Sharland G K. Nuchal translucency and congenital heart defects: heart failure or not?.  Ultrasound Obstet Gynecol. 2000;  16 30-36
    Google Scholar
  • 34 Favre R, Cherif Y, Kohler M. et al . The role of fetal nuchal translucency and ductus venosus Doppler at 11–14 weeks of gestation in the detection of major congenital heart defects.  Ultrasound Obstet Gynecol. 2003;  21 239-243
    Google Scholar
  • 35 Matias A, Huggon I, Areias J C. et al . Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks.  Ultrasound Obstet Gynecol. 1999;  14 307-310
    Google Scholar
  • 36 Axt-Fliedner R, Lietz J, Hartge D. et al . Detection rate of early echocardiography and spectrum of congenital heart disease.  Ultrasound Obstet Gynecol. 2008;  32: OC 067 264
    Google Scholar
  • 37 Clur S, Timmerman E, Snijders R JM. et al . Are NT and ductus venosus independent predictors of fetal congenital heart disease?.  Ultrasound Obstet Gynecol. 2008;  32: OC063 263
    Google Scholar
  • 38 Maiz N, Plasencia W, Agklis T. et al . Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency.  Ultrasound Obstet Gynecol. 2008;  31 256-260
    Google Scholar
  • 39 Axt-Fliedner R, Chiriac A, Gembruch U. First and early second trimester fetal heart scanning.  Ultraschall in Med. 2009;  DOI: 10.1055 /s-0028-1109 358
    Google Scholar

Prof. Roland Axt-Fliedner

Department of OB&GYN, University of Gießen and Marburg, Division of Prenatal Medicine

Klinikstraße 28

35385 Gießen

Phone: ++ 49/6 41/9 94 51 00

Fax: ++ 49/6 41/9 94 51 09

Email: raxtfliedner@hotmail.com