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The Journal of Maternal-Fetal & Neonatal Medicine Volume 31, 2018 - Issue 18
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Original Article

Persistently elevated nuchal translucency and the fetal heart

Trisha V. Vigneswarana Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King’s College Hospital, Denmark Hill, London, UK; ;b Department of Congenital Heart Disease, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Trust, London, UK; ORCID Iconhttps://orcid.org/0000-0002-4084-4203
ORCID Icon,
Tessa Homfraya Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King’s College Hospital, Denmark Hill, London, UK; ;c Department of Clinical Genetics, St. George’s Hospital, London, UK
,
Lindsey D. Allana Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King’s College Hospital, Denmark Hill, London, UK;
,
John M. Simpsona Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King’s College Hospital, Denmark Hill, London, UK; ;b Department of Congenital Heart Disease, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Trust, London, UK;
&
Vita Ziderea Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King’s College Hospital, Denmark Hill, London, UK; ;b Department of Congenital Heart Disease, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Trust, London, UK; Correspondence[email protected]
Pages 2376-2380 | Received 18 May 2017, Accepted 12 Jun 2017, Published online: 04 Jul 2017

References

  • Souka AP, Krampl E, Bakalis S, et al. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol. 2001;18:9–17.
  • To M, Periera S. The routine fetal anomaly scan. In: Coady AMB, Bower S, editors. Twining’s textbook of fetal abnormalities. 3rd ed. London, UK: Churchill Livingstone; 2015. p. 60–80.
  • Wright D, Kagan KO, Molina FS, et al. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol. 2008;31:376–383.
  • Nicolaides KH, Azar G, Byrne D, et al. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ (Clin Res Ed). 1992;304:867–869.
  • Geipel A, Willruth A, Vieten J, et al. Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester. Ultrasound Obstet Gynecol. 2010;35:535–539.
  • Allan LD, Chita SK, Al-Ghazali W, et al. Doppler echocardiographic evaluation of the normal human fetal heart. Br Heart J. 1987;57:528–533.
  • Reed KL, Meijboom EJ, Sahn DJ, et al. Cardiac Doppler flow velocities in human fetuses. Circulation. 1986;73:41–46.
  • 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.
  • Hyett JA, Perdu M, Sharland GK, 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.
  • Joyce S, Gordon K, Brice G, et al. The lymphatic phenotype in Noonan and cardiofaciocutaneous syndrome. Eur J Hum Genet EJHG. 2016;24:690–696.
  • Myers A, Bernstein JA, Brennan ML, et al. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet Part A. 2014;164A:2814–2821.
  • Achiron R, Heggesh J, Grisaru D, et al. Noonan syndrome: a cryptic condition in early gestation. Am J Med Genet. 2000;92:159–165.
  • Menashe M, Arbel R, Raveh D, et al. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Ultrasound Obstet Gynecol. 2002;19:51–55.
  • Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993;22:1189–1192.
  • Bakker M, Pajkrt E, Mathijssen IB, et al. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2011;31:833–840.
  • Staboulidou I, Pereira S, Cruz JD, et al. Prevalence and outcome of absence of ductus venosus at 11+0 to 13+6 weeks. Fetal Diagn Ther. 2011:30:35–40.
  • Alamillo CM, Fiddler M, Pergament E. Increased nuchal translucency in the presence of normal chromosomes: what’s next? Curr Opin Obstet Gynecol. 2012;24:102–108.
  • Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70:1555–1563.
  • Lee KA, Williams B, Roza K, et al. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. Clin Genet. 2009;75:190–194.
  • Musewe NN, Robertson MA, Benson LN, et al. The dysplastic pulmonary valve: echocardiographic features and results of balloon dilatation. Br Heart J. 1987;57:364–370.

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