Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 7 , ISSUE 4 ( October-December, 2013 ) > List of Articles


Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

Tamara Illescas, Waldo Sepulveda, Begona Adiego, Pilar Martinez-Ten

Keywords : Brain malformations,Facial defects,Fetal anomalies,Fetal ultrasound,First-trimester scan,Head malformations,Neck anomalies,Nuchal translucency screening

Citation Information : Illescas T, Sepulveda W, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013; 7 (4):359-368.

DOI: 10.5005/jp-journals-10009-1307

License: CC BY-NC 4.0

Published Online: 01-03-2014

Copyright Statement:  Copyright © 2013; The Author(s).


How to cite this article

Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.

PDF Share
  1. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992 Apr;304(6831):867-869.
  2. 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 Aug;352(9125):343-346.
  3. Diagnosis of fetal abnormalities at the 10-14-week scan. Ultrasound Obstet Gynecol 1997 Dec;10(6):429-442.
  4. Detection of fetal structural abnormalities with US during early pregnancy. Radiographics 2004 Jan-Feb;24(1):157-174.
  5. Early detection of fetal structural abnormalities. Reprod Biomed Online 2005 Apr;10(4):541-553.
  6. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y. Prenat Diagn 2013 Jun;33(6):575-579.
  7. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1998 Jun;11(6):391-400.
  8. Assessment of fetal anatomy at the 11-14-week ultrasound examination. Ultrasound Obstet Gynecol 2004 Dec;24(7):730-734.
  9. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat Diagn 2011 Jan;31(1):90-102.
  10. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2013 Jan;41(1):102-113.
  11. Should the frontal bone be visualized in midline sagittal views of the facial profile to assess the fetal nasal bones during the first trimester? Ultrasound Obstet Gynecol 2005 Jan;25(1):90-92.
  12. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009 Sep;34(3):249-252.
  13. Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester. Ultrasound Obstet Gynecol 2010 Jan;35(1):7-13.
  14. First-trimester assessment of the nasal bones using the retronasal triangle view: a 3-dimensional sonographic study. J Ultrasound Med 2010 Nov;29(11):1555-1561.
  15. Revisiting first-trimester fetal biometry. Ultrasound Obstet Gynecol 2003 Jul;22(1):63-66.
  16. First-trimester sonographic diagnosis of holoprosencephaly: value of the ‘butterfly’ sign. J Ultrasound Med 2004 Jun;23(6):761-765.
  17. Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. J Matern Fetal Med 1996 Jul-Aug;5(4):182-185.
  18. Crown-chin length in normal and anencephalic fetuses at 10 to 14 weeks’ gestation. Am J Obstet Gynecol 1997 Apr;176(4):852-855.
  19. Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997 Jan;9(1):14-16.
  20. The ‘Mickey Mouse’ sign and the diagnosis of anencephaly in early pregnancy. Ultrasound Obstet Gynecol 1999 Mar;13(3):196-199.
  21. First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence. J Ultrasound Med 2003 Oct;22(10):1075-1079.
  22. Diagnosis of the Meckel-Gruber syndrome at 11 to 14 weeks’ gestation. Am J Obstet Gynecol 1997 Feb;176(2):316-319.
  23. Brains and faces in holoprosencephaly: pre-and postnatal description of 30 cases. Ultrasound Obstet Gynecol 2002 Jan;19(1):24-38.
  24. First-trimester screening for holoprosencephaly with choroid plexus morphology (‘butterfly’ sign) and biparietal diameter. Prenat Diagn 2013 Sept 10. doi: 10.1002/pd.4235. [Epub ahead of print]
  25. First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation. Am J Perinatol 2001 Nov;18(7):373-377.
  26. Fetal cystic malformations of the posterior fossa in the first trimester of pregnancy. Fetal Diagn Ther 2005 Mar-Apr;20(2):146-151.
  27. One case of increased intracranial translucency during the first trimester associated with the Dandy-Walker variant. Prenat Diagn 2012 Jun;32(6):602-603.
  28. Prenatal diagnosis of Blake's pouch cyst following first-trimester observation of enlarged intracranial translucency. Ultrasound Obstet Gynecol 2012 Oct;40(4):479-480.
  29. A case of a transient enlargement of the intracranial translucency. Prenat Diagn 2012 Dec;32(13):1324-1325.
  30. Cisterna magna width at 11-13 weeks in the detection of posterior fossa anomalies. Ultrasound Obstet Gynecol 2013 May;41(4):515-520.
  31. Sonographic anatomy of the developing cerebellum: normal embryology can resemble pathology. AJR Am J Roentgenol 1996 Feb;166(2):427-433.
  32. Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn 2009 Apr; 29(4):312-325.
  33. Abnormal appearance of the choroid plexus of the IV ventricle in the first trimester as a predictor of posterior fossa anomalies: a 3-dimensional ultrasound study. Presented at the XII World Congress of Fetal Medicine, Marbella, Spain, 23-27 July 2013.
  34. First-trimester screening for fetal triploidy at 11 to 14 weeks: a role for fetal biometry. Prenat Diagn 2005 Jun;25(6):479-483.
  35. Lateral ventricles in fetuses with aneuploidies at 11-13 weeks’ gestation. Ultrasound Obstet Gynecol 2012 Sep;40(3):282-287.
  36. Available from: Accessed: July 2013‥
  37. Bilateral cleft lip and palate diagnosed sonographically at 11 weeks of pregnancy. J Clin Ultrasound 2006 Oct;34(8):398-401.
  38. Three-dimensional sonographic imaging of fetal bilateral cleft lip and palate in the first trimester (letter). Ultrasound Obstet Gynecol 2009 Jul;34(1):119-121.
  39. First-trimester assessment of the nasal bone using the retronasal triangle view. A prospective study. Ultrasound Obstet Gynecol 2013 Jun 3. doi: 10.1002/uog.12525. [Epub ahead of print].
  40. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks. Am J Obstet Gynecol 2007 Mar;196(3):271.e1-4.
  41. Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2008 Jul;32(1):5-11.
  42. Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. Ultrasound Obstet Gynecol 2009 Oct;34(4):416-418.
  43. Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts. Ultrasound Obstet Gynecol 2010 Oct;36(4):427-432.
  44. First-trimester diagnosis of cleft lip and palate using three-dimensional ultrasound. Ultrasound Obstet Gynecol 2012 Jul;40(1):40-46.
  45. First-trimester assessment of the fetal palate: a novel application of the Volume NT algorithm. J Ultrasound Med 2012 Sep;31(9):1443-1448.
  46. Early prenatal diagnosis of orofacial clefts: evaluation of the retronasal triangle using a new three-dimensional reslicing technique. Fetal Diagn Ther 2013;34(1):31-37.
  47. First-trimester diagnosis of micrognathia as a presentation of Pierre-Robin syndrome. Ultrasound Obstet Gynecol 2003 Jun;21(6):616-618.
  48. Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester. Ultrasound Obstet Gynecol 2012 Feb;39(2):152-156.
  49. Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. J Ultrasound Med 2009 Aug; 28(8):1077-1080.
  50. Fetal cystic hygroma. Cause and natural history. N Engl J Med 1983 Oct;309(14):822-825.
  51. FASTER Trial Research Consortium. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 2005 Aug;106(2):288-294.
  52. Cystic hygromas, nuchal edema, and nuchal translucency at 11-14 weeks of gestation. Obstet Gynecol 2006 Mar;107(3):678-683.
  53. Increased nuchal translucency is associated with jugular lymphatic distension. Hum Reprod 2002 Apr;17(4):1086-1092.
  54. Increased nuchal translucency and distended jugular lymphatic sacs on first-trimester ultrasound. Ultrasound Obstet Gynecol 2005 Mar;25(3):239-245.
  55. Jugular lymphatic sacs in the first trimester of pregnancy: the prevalence and the potential value in screening for chromosomal abnormalities. J Perinat Med 2008;36(6):518-522.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.