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Ultraschall Med 2022; 43(02): 111-114
DOI: 10.1055/a-1745-7002
Title Page

First trimester screening: Increased nuchal translucency or cystic hygroma?

Ersttrimester-Screening: Erhöhte Nackentransparenz oder zystisches Hygroma colli?
Sonila Pashaj
  Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main, Germany
,
Eberhard Merz
  Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main, Germany
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Increased fluid collection in the fetal neck during the first trimester of pregnancy is an important clinical marker for a chromosomal aberration, genetic syndrome, or structural malformation with normal karyotype [1] [2] [3] [4] [5].



Publication History

Article published online:
05 April 2022

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  • References

  • 1 Nicolaides KH, Azar G, Snijders RJ. et al. Fetal nuchal oedema: associated malformations and chromosomal defects. Fetal Diagn Ther 1992; 7 (02) 123-131
    CrossrefPubMedSearch in Google Scholar
  • 2 Kagan KO, Avgidou K, Molina FS. et al. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 2006; 107 (01) 6-10
    CrossrefPubMedSearch in Google Scholar
  • 3 Merz E, Thode C, Alkier A. et al A new approach to calculating the risk of chromosomal abnormalities with first-trimester screening data. Ultraschall in Med 2008; 29 (06) 639-645 . Epub 2008 Dec 15
    Thieme ConnectPubMedSearch in Google Scholar
  • 4 Hyett J, Perdu M, Sharland G. 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
    CrossrefPubMedSearch in Google Scholar
  • 5 Bilardo CM, Müller MA, Pajkrt E. et al. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 2007; 30 (01) 11-18
    CrossrefPubMedSearch in Google Scholar
  • 6 Chervenak FA, Isaacson G, Blakemore KJ. et al. Fetal cystic hygroma. Cause and natural history. N Engl J Med 1983; 309 (14) 822-825
    CrossrefPubMedSearch in Google Scholar
  • 7 Szabó J, Gellén J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet 1990; 336: 1133
    CrossrefPubMedSearch in Google Scholar
  • 8 Schulte-Vallentin M, Schindler H. Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet 1992; 339: 1053
    CrossrefPubMedSearch in Google Scholar
  • 9 Nicolaides KH, Azar G, Snijders RJ. et al. Fetal nuchal oedema: associated malformations and chromosomal defects. Fetal Diagn Ther 1992; 7 (02) 123-131
    CrossrefPubMedSearch in Google Scholar
  • 10 Nicolaides KH, Azar G, Byrne D. et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992; 304: 867-869
    CrossrefPubMedSearch in Google Scholar
  • 11 Benacerraf BR, Barss VA, Laboda LA. A sonographic sign for the detection in the second trimester of the fetus with Down's syndrome. Am J Obstet Gynecol 1985; 151 (08) 1078-1079
    CrossrefPubMedSearch in Google Scholar
  • 12 Benacerraf BR, Frigoletto Jr FD. Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome. Am J Obstet Gynecol 1987; 157 (05) 1146-1149
    CrossrefPubMedSearch in Google Scholar
  • 13 Snijders RJ, Noble P, Sebire N. et al. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998; 352: 343-346
    CrossrefPubMedSearch in Google Scholar
  • 14 Hyett J, Moscoso G, Nicolaides K. Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am J Med Genet 1997; 69 (02) 207-216
    CrossrefPubMedSearch in Google Scholar
  • 15 Sebire NJ, Snijders RJ, Davenport M. et al. Fetal nuchal translucency thickness at 10–14 weeks' gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997; 90 (06) 943-946
    CrossrefPubMedSearch in Google Scholar
  • 16 von Kaisenberg CS, Nicolaides KH, Brand-Saberi B. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod 1999; 14 (03) 823-836
    CrossrefPubMedSearch in Google Scholar
  • 17 von Kaisenberg CS, Brand-Saberi B, Christ B. et al. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 1998; 91 (03) 319-323
    CrossrefPubMedSearch in Google Scholar
  • 18 Böhlandt S, von Kaisenberg CS, Wewetzer K. et al. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Hum Reprod 2000; 15 (05) 1155-1158
    CrossrefPubMedSearch in Google Scholar
  • 19 van der Putte SC. Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. Virchows Arch A Pathol Anat Histol 1977; 376 (03) 233-246
    CrossrefPubMedSearch in Google Scholar
  • 20 Chitayat D, Kalousek DK, Bamforth JS. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 1989; 33 (03) 352-356
    CrossrefPubMedSearch in Google Scholar
  • 21 Miyabara S, Sugihara H, Maehara N. et al. Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis. Am J Med Genet 1989; 34 (04) 489-501
    CrossrefPubMedSearch in Google Scholar
  • 22 Molina FS, Avgidou K, Kagan KO. et al. Cystic hygromas, nuchal edema, and nuchal translucency at 11–14 weeks of gestation. Obstet Gynecol 2006; 107 (03) 678-683
    CrossrefPubMedSearch in Google Scholar
  • 23 Azar GB, Snijders RJ, Gosden C. et al. Fetal nuchal cystic hygromata: associated malformations and chromosomal defects. Fetal Diagn Ther 1991; 6 (01) 46-57
    CrossrefPubMedSearch in Google Scholar
  • 24 Merz E. Ultrasound in Obstetrics and Gynecology. Vol 1 Obstetrics. Stuttgart – New York: Thieme; 2005: 246
    Search in Google Scholar
  • 25 Wassef M, Blei F, Adams D. et al Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics 2015; 136 (01) e203-e214 . Epub 2015 Jun 8
    CrossrefPubMedSearch in Google Scholar
  • 26 Merz E. 30-year anniversary of ultrasound: Clinical use of 3D ultrasound in obstetrics and gynecology (1989–2019). Ultraschall in Med 2019; 40: 288-291
    Thieme ConnectPubMedSearch in Google Scholar
  • 27 Malone FD, Ball RH, Nyberg DA. et al. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 2005; 106 (02) 288-294
    CrossrefPubMedSearch in Google Scholar
  • 28 Karim JN, Bradburn E, Roberts N. et al. First-trimester ultrasound detection of fetal heart anomalies: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2022; 59 (01) 11-25
    CrossrefPubMedSearch in Google Scholar
  • 29 Bakker M, Pajkrt E, Bilardo CM. Increased nuchal translucency with normal karyotype and anomaly scan: what next?. Best Pract Res Clin Obstet Gynaecol 2014; 28 (03) 355-366
    CrossrefPubMedSearch in Google Scholar
  • 30 Pauta M, Martinez-Portilla RJ, Borrell A. Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2022; 59 (01) 26-32
    CrossrefPubMedSearch in Google Scholar