Nuchal translucency

an ultrasound marker for fetal chromosomal abnormalities

Authors

  • Gregório Lorenzo Acácio Faculty of Medical Sciences, Universidade Estadual de Campinas
  • Ricardo Barini Faculty of Medical Sciences, Universidade Estadual de Campinas
  • Walter Pinto Júnior Faculty of Medical Sciences, Universidade Estadual de Campinas
  • Renato Luís Silveira Ximenes Faculty of Medical Sciences, Universidade Estadual de Campinas
  • Heverton Pettersen Faculty of Medical Sciences, Universidade Estadual de Campinas
  • Marcos Faria Faculty of Medical Sciences, Universidade Estadual de Campinas

Keywords:

Aneuploidy, Ultrasound, Chromosomes, Fetus, Prenatal Diagnosis

Abstract

CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects – 10%; mean age – 35.8 years; mean gestational age – 12 weeks and 2 days; nuchal translucency (NT) thickness – 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5% and 75%, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points.

Downloads

Download data is not yet available.

Author Biographies

Gregório Lorenzo Acácio, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD, MSc. Faculty of Medical Sciences and affiliated to Universidade de Taubaté, Universidade Estadual de Campinas, Campinas, Brazil.

Ricardo Barini, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD, PhD. Faculty of Medical Sciences and affiliated to DTG, CAISM, Universidade Estadual de Campinas, Campinas, Brazil.

Walter Pinto Júnior, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD, PhD. Titular Professor, Department of Genetics, Faculty of Medical Sciences and affiliated to Cemesp clinic for hereditary diseases, Universidade Estadual de Campinas, Campinas, Brazil.

Renato Luís Silveira Ximenes, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD. Affiliated to Centrus - Center for Fetal Medicine and Ultrasound in Campinas, Campinas, Brazil.

Heverton Pettersen, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD. Affiliated to Gennus - Nucleus for Fetal Medicine in Belo Horizonte, Belo Horizonte, Brazil.

Marcos Faria, Faculty of Medical Sciences, Universidade Estadual de Campinas

MD. Affiliated to Gennus - Nucleus for Fetal Medicine in Belo Horizonte, Belo Horizonte, Brazil.

References

Szabo J, Gellen J. Nuchal fluid accumulation in trisomy 21 detected by vaginosonography in first trimester. Lancet 1990;3:1133.

Nicolaides KH, Azar G, Byrne, D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal de- fects in first trimester of pregnancy. Br Med J 1992;304:867-9.

Greco P, Loverro G, Vimercati A, Marzulo A, Caruso G, Selvaggi L. Pathological significance of first-trimester fetal nuchal oedema. Prenat Diagn 1996;16:503-09.

Kaisenberg CS, Nicolaides KH, Brand-Saberi B. Lymphatic ves- sel hypoplasia in fetuses with Turner syndrome. Human Repro1999;3:823-6.

Moscoso G. Fetal nuchal translucency: a need to understand the physiological basis. Ultrasound Obstet Gynecol 1995;5:381-3.

Pandya PP, Johnson SP, Malligianis P, Nicolaides KH. First-trimester fetal nuchal translucency and screening for chromosomal abnormalities. In Jurkovic D, Jauiaux ??, editors. Ultrasound and Early Preg- nancy. London and New York: Parthenon Publishing; 1996:81-94.

Snijders RJM, Nicolaides KH. Assessment of risks. In:_ Ultra- sound markers for fetal chromosomal defects. New York and Lon- don: Parthenon publishing group; 1996a:63-120.

Bronshtein M, Rottem S, Yoffe N, Blumenfeld Z. First trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: Diverse prognosis of the septate from the non-septate lesion. Am J Obstet Gynecol 1989;161:78-82.

Johnson MP, Johnson A, Holzgreve W, et al. First-trimester sim- ple hygroma: cause and outcome. Am J Obstet Gynecol 1993;168:156-61.

Nicolaides KH, Brizot ML, Snijders RJM. Fetal nuchal translu- cency: ultrasound screening for fetal trisomy in the first trimester of pregnancy Br J Obstet Gynaecol 1994;101:782-6.

Brambati B, Cislaghi C, Tului L, et al. First-trimester Down’s syn- drome screening using nuchal translucency: a prospective study in patients undergoing chorionic villus sampling. Ultrasound Obstet Gynecol 1995;5:9-14.

Comas C, Martinez JM, Ojuel J, et al. First-trimester nuchal edema as a marker of aneuploidy. Ultrasound Obstet Gynecol 1995;5:26-9.

Szabo J, Gellen J, Szemere G. First-trimester ultrasound screen- ing for fetal aneuploidy in women over 35 and under 35 years of age. Ultrasound Obstet Gynecol 1995;3:161-3.

Kornman LH, Morssink LP, Beekhuis JR, De Wolf BTHM, Heringa MP, Mantingh A. Nuchal translucency cannot be used as a screening test for chromosomal abnormalities in the first trimes- ter of pregnancy in a routine ultrasound practice. Prenat Diagn 1996;16:797-805.

Faria M, Quintino S, Pettersen H. Rastreamento ultra-sonográfico de anomalias cromossômicas através da medida da translucência nucal

- Análise de 231 fetos. Rev Bras Ginec Obstet 1997;19:19-30.

Taipale P, Hilesma A, Salonen R, Ylostalo P. Increased nuchal trans- lucency as a marker for the chromosomal defects. N Engl J Med 1997;23:1654-8.

Pajkrt E, Mol BWJ, Van Lith JMM, Bleker OP, Bilardo CM. Screening for Down’s syndrome by fetal nuchal translucency measurement in a high-risk population. Ultrasound Obstet Gynecol 1998b;12:156-62.

Pandya PP, Goldberg H, Walton B, et al. The implementation of first-trimester scanning at 10-13 weeks’ gestation and the meas- urement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol 1995c;5:20-5.

Hafner E, Schuchter K, Liebhart E, Philipp K. Results of routine fetal nuchal translucency measurement at weeks 10-13 in 4233 unselected pregnant women. Prenat Diagn 1998;18:29-34.

Bewley S, Roberts LJ, Mackinson AM, Rodeck CH. First trimes- ter fetal nuchal translucency: Problems with the general popula- tion 2. Br J Obstet Gynaecol 1995;102:386-8.

Cha’ban FK, Van Splunder P, Los FJ, Wladimiroff JW. Fetal out- come in nuchal translucency with emphasis on normal fetal karyo- type. Prenat Diagn 1996;16:537-41.

Reynders CS, Pauker SP, Benacerraf BR. First trimester isolated fetal nuchal lucency: significance and outcome. J Ultrasound Med 1997;16:101-05.

Snijders RJM, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by mater- nal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal medicine foundation first-trimester screening group. Lancet 1998;352:337-8.

Schäfer H. Efficient confidence bounds for ROC curves. Statis- tics in medicine 1994;13:1551-61.

Pandya PP, Snijders RJM, Johnson SP, Brizot ML. Screening for fetal trisomy by maternal age and fetal nuchal translucency thick- ness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 1995b;102:957-62.

Robinson HP, Fleming JE. A critical evaluation of sonar crown-rump length measurements. Br J Obstet Gynaecol 1975;82:702-10.

Nicolaides KH, Sebire NJ, Snijders RJM. Nuchal translucency and chromosomal defects. In: The 11-14 weeks scan: the diag- nosis of fetal abnormalities. 1st ed. New York and London: Parthenon Publishing; 1999:03-63.

Hafner E, Schuchter K, Philipp K. Screening for chromosomal abnormalities in an unselected population by fetal nuchal translu- cency. Ultrasound Obstet Gynecol 1995;330-3.

Braithwaite JM, Morris RW, Economides DL. Nuchal translu- cency measurements: frequency distribution and changes with gestation in a general population. Br J Obstet Gynaecol 1996;103:1201-04.

Snijders RJM, Nicolaides KH. First-trimester fetal nuchal trans- lucency. In: Ultrasound markers for fetal chromosomal defects. New York and London: Parthenon Publishing; 1996b:121-56.

Pajkrt E, De Graff IM, Mol BWJ, Van Lith JMM, Bleker OP, Bilardo CM. Weekly nuchal translucency measurements in nor- mal fetuses. Obstet Gynecol 1998a;91:208-11.

Schuchter K, Wald N, Hackshaw AK, Hafner E, Liebhart E. The distribution of nuchal translucency at 10-13 weeks of pregnancy. Prenat Diagn 1998;18:281-6.

Thompson MW, McInnes RR, Willard HF. Citogenética clínica: princípios gerais e anormalidades autossômicas. In: Thompson & Thompson. Genética médica. 5th ed. Rio de Janeiro: Guanabara Koogan; 1993:138-68.

Snijders RJM, Holzgreve W, Cuckle H, Nicolaides KH. Maternal age-specific risks for trisomy at 9-14 weeks’ gestation. Prenat. Diagn 1994;14:543-52.

Hook EB. Prevalence of chromosome abnormalities during hu- man gestation and implications for study of environmental mutagens. Lancet 1981;6:169-72.

Begg BC, McNeil BJ. Assessment of radiological tests: Control of bias and other design considerations. Radiology 1988;167:565–9.

Snijders RJM, Sundberg K, Holzgreve W, Henry G, Nicolaides KH. Maternal age and gestation-specific risk for trisomy 21. Ul- trasound Obstet Gynecol 1999;13:167-70.

Snijders RJM, Sebire NJ, Cuckle H, Nicolaides KH. Maternal age-specific risks for chromosomal defects. Fetal Diag Ther 1995;10:356 -67.

Downloads

Published

2001-01-01

How to Cite

1.
Acácio GL, Barini R, Pinto Júnior W, Ximenes RLS, Pettersen H, Faria M. Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities. Sao Paulo Med J [Internet]. 2001 Jan. 1 [cited 2025 Mar. 11];119(1):19-23. Available from: https://periodicosapm.emnuvens.com.br/spmj/article/view/2739

Issue

Vol. 119 No. 1 (2001)

Section

Original Article

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.