193
Views
0
CrossRef citations to date
0
Altmetric
Original Article

A structurally normal fetus at the 11- to 14-week ultrasound does not guarantee a newborn without congenital anomalies: a cohort study

, , , , , & show all
Pages 3960-3966 | Received 11 Dec 2015, Accepted 05 Feb 2016, Published online: 03 Mar 2016

References

  • Copeland GE, Kirby RS. Using birth defects registry data to evaluate infant and childhood mortality associated with birth defects: an alternative to traditional mortality assessment using underlying cause of death statistics. Birth Defects Res A Clin Mol Teratol 2007;79:792–7
  • Liu X, Roth J. Development and validation of an infant morbidity index using latent variable models. Stat Med 2008;27:971–89
  • Stillerman KP, Mattison DR, Giudice LC, Woodruff TJ. Environmental exposures and adverse pregnancy outcomes: a review of the science. Reprod Sci 2008;15:631–50
  • Khoshnood B, Greenlees R, Loane M, et al Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Res 2011;91:S16–22
  • Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010;686:349–64
  • Monteagudo A, Timor-Tritsch IE. First trimester anatomy scan: pushing the limits. What can we see now? Curr Opin Obstet Gynecol 2003;15:131–41
  • Carvalho MH, Brizot ML, Lopes LM, et al. Detection of fetal structural abnormalities at the 11–14 week ultrasound scan. Prenat Diagn 2002;22:1–4
  • den Hollander NS, Wessels MW, Niermeijer MF, et al. Early fetal anomaly scanning in a population at increased risk of abnormalities. Ultrasound Obstet Gynecol 2002;19:570–4
  • Souka AP, Pilalis A, Kavalakis Y, et al. Assessment of fetal anatomy at the 11–14-week ultrasound examination. Ultrasound Obstet Gynecol 2004;24:730–4
  • Nicolaides KH. First-trimester screening for chromosomal abnormalities. Semin Perinatol 2005;29:190–4
  • Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol 2001;17:102–5
  • Souka AP, Von Kaisenberg CS, Hyett JA, et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192:1005–21
  • Sonek J. First trimester ultrasonography in screening and detection of fetal anomalies. Am J Med Genet C Semin Med Genet 2007;145C:45–61
  • Jouannic JM, Thieulin AC, Bonnet D, et al. Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation. Prenat Diagn 2011;31:1264–9
  • Miller JL, de Veciana M, Turan S, et al. First-trimester detection of fetal anomalies in pregestational diabetes using nuchal translucency, ductus venosus Doppler, and maternal glycosylated hemoglobin. Am J Obstet Gynecol 2013;208:385.e1–8
  • Baer RJ, Norton ME, Shaw GM, et al. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol 2014;211:675.e1–19
  • 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;352:343–6
  • Sonek J, Nicolaides K. Additional first-trimester ultrasound markers. Clin Lab Med 2010;30:573–92
  • Cicero S, Curcio P, Papageorghiou A, et al. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001;358:1665–7
  • Kagan KO, Cicero S, Staboulidou I, et al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:259–64
  • Maiz N, Kagan KO, Milovanovic Z, et al. Learning curve for Doppler assessment of ductus venosus flow at 11 + 0 to 13 + 6 weeks' gestation. Ultrasound Obstet Gynecol 2008;31:503–6
  • Kagan KO, Valencia C, Livanos P, et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:18–22
  • Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15
  • Goldenberg RL, Kirby R, Culhane JF. Stillbirth: a review. J Matern Fetal Neonatal Med 2004;16:79–94
  • Kagan KO, Avgidou K, Molina FS, et al. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 2006;107:6–10
  • Westin M, Saltvedt S, Almstrom H, et al. By how much does increased nuchal translucency increase the risk of adverse pregnancy outcome in chromosomally normal fetuses? A study of 16,260 fetuses derived from an unselected pregnant population. Ultrasound Obstet Gynecol 2007;29:150–8
  • Souka AP, Snidjers RJM, Novakov A, et al. 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
  • 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
  • Haak MC, van Vugt JM. Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update 2003;9:175–84
  • 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;318:81–5
  • Makrydimas G, Sotiriadis A, Ioannidis JP. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol 2003;189:1330–5
  • Clur SA, Mathijssen IB, Pajkrt E, et al. Structural heart defects associated with an increased nuchal translucency: 9 years’ experience in a referral centre. Prenat Diagn 2008;28:347–54
  • Ayräs O, Tikkanen M, Eronen M, et al. Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn 2013;33:856–62
  • Sebire NJ, Snijders RJ, Davenport M, et al. Fetal nuchal translucency thickness at 10–14 weeks' gestation and congenital diaphragmatic hernia. Obstet Gynecol 1997;90:943–6
  • Ben Ami M, Perlitz Y, Haddad S, Matilsky M. Increased nuchal translucency is associated with asphyxiating thoracic dysplasia. Ultrasound Obstet Gynecol 1997;10:297–8
  • von Kaisenberg CS, Krenn V, Ludwig M, et al. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12–18 weeks and in a trisomy 16 mouse. Anat Embryol 1998;197:105–24
  • Bohlandt S, von Kaisenberg CS, Wewetzer K, et al. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Hum Reprod 2000;15:1155–8
  • Stiller RJ, Lieberson D, Herzlinger R, et al. The association of increased fetal nuchal translucency and spinal muscular atrophy type I. Prenat Diagn 1999;19:587–9
  • Timmerman E, Pajkrt E, Maas SM, Bilardo CM. Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts. Ultrasound Obstet Gynecol 2010;36:427–32
  • Bilardo CM, Müller MA, Zikulnig L, et al. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol 2001;17:288–94
  • Ritter S, Jörn H, Weiss C, Rath W. Importance of Ductus venosus Doppler assessment for fetal outcome in cases of intrauterine growth restriction. Fetal Diagn Ther 2004;19:348–55
  • Matias A, Gomes C, Flack N, et al. Screening for chromosomal abnormalities at 10–14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol 1998;12:380–4
  • Mavrides E, Sairam S, Hollis B, Thilaganathan B. Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus. BJOG 2002;109:1015–19
  • Borrell A, Martinez JM, Serés A, et al. Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat Diagn 2003;23:921–6
  • Maiz N, Valencia C, Kagan KO, et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:512–17
  • Favre R, Cherif Y, Kohler M, et al. The role of fetal nuchal translucency and ductus venosus Doppler at 11–14 weeks of gestation in the detection of major congenital heart defects. Ultrasound Obstet Gynecol 2003;21:239–43
  • Oh C, Harman C, Baschat AA. Abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol 2007;309:192–6
  • Maiz N, Plasencia W, Dagklis T, et al. Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness. Ultrasound Obstet Gynecol 2008;31:256–60
  • Papatheodorou SI, Evangelou E, Makrydimas G, Ioannidis JP. First-trimester ductus venosus screening for cardiac defects: a meta-analysis. BJOG 2011;118:1438–45
  • Timmerman E, Clur SA, Pajkrt E, Bilardo CM. First-trimester measurement of the ductus venosus pulsatility index and the prediction of congenital heart defects. Ultrasound Obstet Gynecol 2010;36:668–75
  • Prefumo F, Risso D, Venturini PL, De Biasio P. Reference values for ductus venosus Doppler flow measurements at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 2002;20:42–6
  • Axt-Fliedner R, Diler S, Georg T, et al. Reference values of ductus venosus blood flow velocities and waveform indices from 10 to 20 weeks of gestation. Arch Gynecol Obstet 2004;269:199–204
  • Huggon IC, DeFigueiredo DB, Allan LD. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation. Heart 2003;89:1071–3
  • Faiola S, Tsoi E, Huggon IC, et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol 2005;26:22–7
  • Volpe P, Ubaldo P, Volpe N, et al. Fetal cardiac evaluation at 11–14 weeks by experienced obstetricians in a low-risk population. Prenat Diagn 2011;31:1054–61
  • Pereira S, Ganapathy R, Syngelaki A, et al. Contribution of fetal tricuspid regurgitation in first-trimester screening for major cardiac defects. Obstet Gynecol 2011;117:1384–91

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.