Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 3 , ISSUE 3 ( July-September, 2009 ) > List of Articles

RESEARCH ARTICLE

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

L Orosz, J Lukács, M Szabó, T Kovács, I Zsupán, G Orosz, Z Tóth, O Török

Keywords : Congenital heart defects,fetal echocardiography,first trimester screening,hydrocele,long-term follow-up,nuchal translucency

Citation Information : Orosz L, Lukács J, Szabó M, Kovács T, Zsupán I, Orosz G, Tóth Z, Török O. Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype. Donald School J Ultrasound Obstet Gynecol 2009; 3 (3):83-90.

DOI: 10.5005/jp-journals-10009-1024

License: CC BY-NC 4.0

Published Online: 00-09-2009

Copyright Statement:  Copyright © 2009; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Objectives

The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness.

Methods

This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT.

Results

The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion.

Conclusion

The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.


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  1. Nuchal fluid accumulation in trisomy 21 detected by vaginosonography in first trimester. Lancet 1990;3:1133.
  2. Increased nuchal translucency with normal karyotype. Ginekol Pol Aug 2005;76(8):593-601.
  3. Pregnancy outcome in fetuses with increased nuchal translucency. Clin Obstet Gynecol Mar 2008;51(1):37-47.
  4. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998;11:391-400.
  5. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 1995;16:103-13.
  6. Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol 1995;16:155-65.
  7. Efficacy of routine fetal ultrasound screening for congenital heart disease in normal pregnancy. Circulation 1996;94:67-72.
  8. Fetal echocardiographic screening for congenital heart disease: the importance of the four-chamber view. Am J Obstet Gynecol 1987;157:648-55.
  9. Screening for chromosomal abnormalities at 11-14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol 1998;12:380-84.
  10. Fetal nuchal translucency thickness at 10-14 weeks’ gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997;90:943-46.
  11. Fetel Medicine Foundation, London 2004;93-94.
  12. Glycosaminoglycans and proteoglycans in the skin of aneuploid fetuses with increased nuchal translucency. Hum Reprod Dec 2003;18(12):2544-61.
  13. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod 1999;14:823-26.
  14. Warens hemoglobin level to the development of hydrops in rhesus isoimmunization. Am J Obstet Gynecol 1985;152:341-44.
  15. Fetal hydrops secondary to human parvovirus infection in early pregnancy. Prenat Diagn 1996;16:342-44.
  16. The prognosis of fetuses with transient nuchal translucency in the first and early second trimester. Acta Obstet Gynecol Scand 1998;76:913-16.
  17. Increased nuchal translucency as a praenatal manifestation of congenital adrenal hyperplasia. Prenatal Diagnosis 2001;21(4):314-16.
  18. The use of nuchal translucency in contemporary obstetric practice. Ultrasound Obstet Gynecol Feb 2008;31(2):136-46.
  19. Long-Term Outcome for Children Born After a First-Trimester Measurement of Increased Nuchal Translucency with a Normal Karyotype: A Retrospective Analysis. Ultraschall Med 2009 Jan 9.
  20. Increased nuchal translucency at 11-14 weeks of gestation in congenital heart disease, genetic syndromes and adverse pregnancy outcome. Akush Ginekol (Sofiia) 2005;44(6):8-15. Bulgarian.
  21. Nuchal Translucency Thickness in Euploid Fetuses: Is Two Millimeters Too Risky? Prenat Diagn Dec 2008;28(12):1094-104.
  22. Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester. J Clin Ultrasound 2008;36(2):119-22.
  23. Increased nuchal translucency at 11-14 weeks of gestation in congenital heart disease, genetic syndromes and adverse pregnancy outcome. Akush Ginekol (Sofiia) 2005;44(6):8-15.
  24. Semin Perinatol Oct 2000;24(5):343-51.
  25. Ultrasound Obstet Gynecol 1998;11:407-09.
  26. Long-term followup of children with increased nuchal translucency and normal karyotype. J Gynecol Obstet Biol Reprod (Paris); 2005;34(1 Suppl):S97-102. French.
  27. January 1999;9;318(7176):81-85.
  28. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192:1005-21.
  29. Arq Bras Cardiol Sept 2006;87:3. Sao Paulo
  30. Nuchal translucency and fetal cardiac defects: A pooled analysis of major fetal echocardiography centers. American Journal of Obstetrics and Gynecology January 2005;192(1):89-95.
  31. Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre. J Perinatol 2008;28(6):400-04.
  32. Nuchal translucency measurements for first-trimester screening: the ‘price’ of inaccuracy. Ultrasound Obstet Gynecol. Aug 2007;30(2):197-200.
  33. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001;17:102-05.
  34. Limitations of using first trimester nuchal translucency measurement in routine screening for major congenital heart defects. Ultrasound Obstet Gynecol 2001;17:106-10.
  35. Screening for congenital heart disease with fetal nuchal translucency at 10-14 weeks of gestation. BMJ 1999;318:81-85.
  36. Eur J Obstet Gynecol Reprod Biol Mar 2002;10;101(2):124-28.
  37. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol January 2007;196(1):531-36.
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