The link between nuchal translucency and congenital heart disease

C. Ionescu; Diana Gheorghiu; Gabriela Iacob; H. Haradja

doi:10.2478/arsm-2013-0037

.blurhash-client-img { display: none !important; }

The link between nuchal translucency and congenital heart disease

ARS Medica Tomitana

Volume 19 (2013): Issue 4 (November 2013)

By: C. Ionescu, Diana Gheorghiu, Gabriela Iacob and H. Haradja

Open Access

|Nov 2013

Abstract

The nuchal translucency is defined as a transient subcutaneous collection of fluid behind the fetal neck seen on ultrasonography at 11-14 weeks of gestation. In this current overview it was observed the relationship between increased nuchal translucency (NT) and fetal heart structure and function in chromosomally normal fetuses. Fetuses with an increases NT have an increased risk for congenital heart disease (CHD) and the combination between an increases NT, tricuspid regurgitation (TR) and an abnormal ductus venosus (DV) Doppler flow profile is a strong marker for CHD.

References

1. Nicolaides K.H., Azar G., Byrne D., Mansur C. & Marks K. (1992). Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 304, 867 - 86910.1136/bmj.304.6831.867
Search in Google Scholar
2. Pajkrt E., Bilardo C.M., van Lith J.M.M., Mol B.W.J. & Bleker O.P. (1995). Nuchal translucency measurement in normal fetuses. Obstet Gynecol. 86, 994 - 99710.1016/0029-7844(95)00310-N
Search in Google Scholar
3. Pandya P.P., Snijders R.J.M., De Johnson S.P., Luordes N.M. & Nicolaides K.H. (1995). Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10-11 weeks of gestation. Br J Obstet Gynaecol. 102, 957 - 96210.1111/j.1471-0528.1995.tb10902.x
Search in Google Scholar
4. Bilardo CM , Muller MA , Pajkrt E , Clur SA , van Zalen MM , Bijlsma EK . 2007 . Increased nuchal translucency and normal Karyotype : time for prenatal reassurance . Ultrasound Obstet Gynecol 30 : 11 - 18 .10.1002/uog.4044
Search in Google Scholar
5. Souka A.P., Von Kaisenberg C.S., Hyett J.A., Snoek J.D. & Nicolaides K.H. (2005). Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 192, 1005 - 102110.1016/j.ajog.2004.12.093
Search in Google Scholar
6. Westin M., Saaltvedt S., Bergman G., Almstrom H., Grunewald C. & Valentin L. (2007) . By how much does increased nuchal transluncency increased the risk of adverse outcome in chromosomally normal fetuses? A study of 16Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16260 fetuses derived from an unselected pregnant population. Ultrasound Obstet Gynecol. 29, 150 - 15810.1002/uog.3905
Search in Google Scholar
7. Hyett J., Perdu M., Sharland G.K., Snijders R. & Nicolaides K.H. (1999). Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ. 318, 81 - 8510.1136/bmj.318.7176.81
Search in Google Scholar
8. Makrydimas G., Sotiriadis A. & Ioannidis J.P. (2003). Screening performance of first - trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol. 189, 1330 - 133510.1067/S0002-9378(03)00645-8
Search in Google Scholar
9. Simpson L.L., Malone F.D., Saade G.R. & D’Alton M.E. (2007). Nuchal translucency and the risk of congenital heart disease . Obstet Gynecol. 109, 1456 - 1457
Search in Google Scholar
10. Hyett J., Snoek J. & Nicolaides K.H. (2007). Nuchal translucency and the risk of congenital heart disease. (Letter to editor). Obstet Gynecol. 109, 1455 - 145610.1097/01.AOG.0000267265.89831.c017540825
Search in Google Scholar
11. Ghi T., Huggon I.C., Zosmer N. & Nicolaides K.H. (2001). Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype. Ultrasoung Obstet Gynecol. 18, 610 - 61410.1046/j.0960-7692.2001.00584.x11844199
Search in Google Scholar
12. Makrydimas G., Sotiriadis A. & Huggon I.C. et al. (2005). Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Am J Obstet Gynecol. 192, 89 - 9510.1016/j.ajog.2004.06.081
Search in Google Scholar
13. Hyett J. (2004). Does nuchal translucency have a role in fetal cardiac screening? Prenat Diagn. 24, 1130 - 1135
Search in Google Scholar
14. Galindo A., Comas C. & Martinez J.M. et al. (2003). Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10 - 14 weeks gestation. J Matern Fetal Neonatal Med. 13, 163 - 170
Search in Google Scholar
15. Clur S.A., Mathijssen I.B. & Pajkrt E. et al. (2008). Structural heart defects associated with an increased nuchal translucency: 9 years’ experience in a referral center. Prenat Diagn. 28, 347 - 35410.1002/pd.1985
Search in Google Scholar
16. Moll B.W.J. (1999). Down’s syndrome, cardiac anomalies and nuchal translucency. Fetal heart failure might link nuchal translucency and Down’s syndrome. BMJ. 318(7176), 70-7110.1136/bmj.318.7176.70
Search in Google Scholar
17. Hyett J., Brizot M.L., von Kaisenberg C.S., McKie A.T., Farzaneh F. & Nicolaides K.H. (1996). Cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide in trisomic fetuses. Obstet Gynecol. 87, 506 -51010.1016/0029-7844(95)00486-6
Search in Google Scholar
18. Nicolaides K.H., Heath V. & Cicero S. (2002). Increased fetal nuchal translucency at 11-14 weeks. Prenat Diagn. 22, 308 - 31510.1002/pd.30811981911
Search in Google Scholar
19. Matias A., Huggon I., Areias J.C., Montenegro N. & Nicolaides K.H. (1999). Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol. 14, 307 - 31010.1046/j.1469-0705.1999.14050307.x10623988
Search in Google Scholar
20. Allan L.D. (2006). The mystery of nuchal translucency. The Mannheimer Lecture. Cardiol Young. 16, 11 - 1710.1017/S104795110500203916454872
Search in Google Scholar
21. Leiva M.C., Tolosa J.E. & Binotto C.N. et al. (1999). Fetal cardiac development and haemodynamics in the first trimester. Ultrasound Obstet Gynecol. 14, 167 - 17410.1046/j.1469-0705.1999.14030169.x10550875
Search in Google Scholar
22. Haak M.C., Twisk J.W., Bertelings M.M., Gittenberger de Groot A.C. & van Vugt J.M. (2005). First trimester fetuses with increased nuchal translucency do not show altered intracardiac flow velocities. Ultrasound Obstet Gynecol. 25, 246 - 25210.1002/uog.181015719441
Search in Google Scholar
23. Sedmera D., Cook A.C., Shirali G. & McQuinn T.C. (2005). Current issues and perspectives in hypoplasia of the left heart. Cardiol Young. 15, 56 - 7210.1017/S104795110500013215831164
Search in Google Scholar
24. Oh C., Harmam C. & Baschat A.A. (2007). Abnormal first trimester ductus venosus blood flow: a risk for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol. 30, 192 - 196
Search in Google Scholar
25. Huisman T.W.A. & Bilardo C. (1997). Transient increase in nuchal translucency thickness and reverse end - diastolic ductus venosus flow in a fetus with trisomy 18. Ultrasound Obstet Gynecol. 10, 397 - 39910.1046/j.1469-0705.1997.10060397.x9476323
Search in Google Scholar
26. Matias A., Gomes C., Flack N., Montenegro N. & Nicolaides K.H. (1998). Screening for chromosomal abnormalities at 10 - 14 weeks: the role of the ductus venous blood flow. Ultrasound Obstet Gynecol 12, 380 - 38410.1046/j.1469-0705.1998.12060380.x9918085
Search in Google Scholar
27. Maiz N., Plasencia W., Dagklis T., Faros E. & Nicolaides K.H. (2008). Ductus venosus Doppler in fetuses with cardiac defects and high nuchal translucency thickness. Ultrasound Obstet Gynecol. 31, 256 - 26010.1002/uog.526218307193
Search in Google Scholar
28. Simpson J.M. & Sharland G.K. (2000). Nuchal translucency and congenital heart defects: heart failure or not? Ultrasound Obstet Gynecol 16, 30 - 3610.1046/j.1469-0705.2000.00158.x11084962
Search in Google Scholar
29. Huggon I.C., Turan O. & Allan L.D. (2004). Doppler assessment of cardiac function at 11-14 weeks’ gestation in fetuses with normal and increased nuchal translucency. Ultrasound Obstet Gynecol. 24, 390 - 39810.1002/uog.172015343592
Search in Google Scholar
30. Faiola S., Tsoi E., Huggon I.C., Allan L.D. & Nicolaides K.H. (2005). Likelihood ratio for trisomy 21 in fetus with tricuspid regurgitation at 11 to 13 + 6 weeks scan. Ultrasound Obstet Gynecol. 26, 22 - 2710.1002/uog.192215937972
Search in Google Scholar
31. Huggon I.C., DeFigueiredo D.B. & Allan L.D. (2003). Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11 - 14 weeks of gestation. Heart. 89, 1071 - 107310.1136/heart.89.9.1071176786512923032
Search in Google Scholar
32. Rudolph A.M. (2001). Congenital Diseases of the Heart (2nd ed). (pp. 3-44). New York: Futura Publishing Company
Search in Google Scholar
33. Coceani F., Adeagbo A.S., Cutz E. & Olley P.M. (1984). Autonomic mechanism in the ductus venosus of the lamb. Am J Physiol. 247, H17 - H2410.1152/ajpheart.1984.247.1.H176742210
Search in Google Scholar
34. Carmeliet P. (2003). Blood vessels and nerves: common signals, pathways and diseases. Nat Rev Genet. 4, 710 - 72010.1038/nrg115812951572
Search in Google Scholar
35. Kirby M.L. (1991). Neural crest and the morphogenesis of the Down syndrome with special emphasis on cardiovascular development. Prog Clin Biol Res. 373, 215 - 225
Search in Google Scholar
36. Yagel S., Cohen S.M. & Messing B. (2007). First trimester fetal heartscreening. Curr Opin Gynecol. 19, 183 - 19010.1097/GCO.0b013e3280895de617353687
Search in Google Scholar
37. Carvalho J.S. (2004). Fetal heart scanning in the first trimester. Prenat Diagn. 24, 1060 - 106710.1002/pd.106315614834
Search in Google Scholar
38. Lee W., Allan L. & Carvalho J.S. et al. (2008). ISUOG consensus statement: what constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol. 32, 239 - 242
Search in Google Scholar
39. Johnson B. & Simpson L.L. (2007). Screening for congenital heart disease: A move toward earlier echochardiography. Am J Perinatol. 24, 449 - 45610.1055/s-2007-98668117992711
Search in Google Scholar
40. Bronshtein M., Zimmer E.Z. & Blazer S. (2008). The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency. Prenat Diagn. 28, 1037 - 1041 10.1002/pd.211918925580
Search in Google Scholar

Articles in this issue

DOI: https://doi.org/10.2478/arsm-2013-0037 | Journal eISSN: 1841-4036 | Journal ISSN: 1223-9666

Journal RSS Feed

Language: English

Page range: 206 - 211

Published on: Nov 9, 2013

Published by: Ovidius University of Constanta

In partnership with: Paradigm Publishing Services

Publication frequency: 4 issues per year

Keywords:

nuchal translucency,

congenital heart disease,

Related subjects:

Medicine,

Clinical medicine,

Clinical medicine, other

© 2013 C. Ionescu, Diana Gheorghiu, Gabriela Iacob, H. Haradja, published by Ovidius University of Constanta
This work is licensed under the Creative Commons License.

Volume 19 (2013): Issue 4 (November 2013)