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)

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.

References

  • 1 Hoffman J I, Kaplan S. The incidence of congenital heart disease.  J Am Coll Cardiol. 2002;  39 1890-1900
  • 2 Loffredo C A. Epidemiology of cardiovascular malformations: prevalence and risk factors.  Am J Med Genet. 2000;  97 319-325
  • 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
  • 4 Yates R WM. Cardiac abnormalities and their association with aneuploidy.  Prenat Diagn. 1999;  19 542-545
  • 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
  • 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
  • 7 Hyett J A. Increased nuchal translucency in fetuses with a normal karyotype.  Prenatal Diagnosis. 2002;  22 864-868
  • 8 Yagel S, Weissman A, Rotstein Z. et al . Congenital heart defects: natural course and in utero development.  Circulation. 1997;  96 550-555
  • 9 Gembruch U. Prenatal diagnosis of congenital heart disease.  Prenat Diagn. 1997;  17 1283-1297
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 17 Michailidis G D, Economides D L. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses.  Ultrasound Obstet Gynecol. 2001;  17 102-105
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 30 Allan L. The mystery of nuchal translucency.  Cardiol Young. 2006;  16 11-17
  • 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
  • 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
  • 33 Simpson J M, Sharland G K. Nuchal translucency and congenital heart defects: heart failure or not?.  Ultrasound Obstet Gynecol. 2000;  16 30-36
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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

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