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VOLUME 10 , ISSUE 1 ( January-March, 2016 ) > List of Articles

REVIEW ARTICLE

Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle

Ritsuko K Pooh, Taib Delic

Keywords : Dysmorphic features,Fetal sonographic assessment,Fetal syndromes,Medical ethics,Online databases,Prenatal,Recognizable patterns,Three-/four-dimensional ultrasound

Citation Information : Pooh RK, Delic T. Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle. Donald School J Ultrasound Obstet Gynecol 2016; 10 (1):63-77.

DOI: 10.5005/jp-journals-10009-1444

License: CC BY-NC 4.0

Published Online: 01-09-2016

Copyright Statement:  Copyright © 2016; The Author(s).


Abstract

How to cite this article

Barisic LS, Kurjak A, Pooh RK, Delic T, Stanojevic M, Porovic S. Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle. Donald School J Ultrasound Obstet Gynecol 2016;10(1):63-77.

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  1. Elsevier. Available at: http://www.dorlands.com/wsearch.jsp.
  2. Three-dimensional ultrasound and genetic syndromes. DSJUOG 2007 Jul-Sep;1(3):54-59.
  3. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J 2006 Mar;43(2):155-159.
  4. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: Elsevier Saunders; 1997. Chapter 1, Introduction including dysmorphology approach and classification. pp. 875.
  5. Initial sequencing and analysis of the human genome. Nature 2001 Feb;409:860-921.
  6. Finishing the euchromatic sequence of the human genome. Nature 2004 Oct;431(7011):931-945.
  7. Resolving the complexity of the human genome using single-molecule sequencing. Nature 2015 Jan;517(7536):608-611.
  8. 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.
  9. New scoring system for fetal neurobehavior assessed by three- and four-dimensional sonography. J Perinat Med 2008;36(1):73-81.
  10. The potential of 4D sonography in the assessment of fetal neurobehavior-multicentric study in high-risk pregnancies. J Perinat Med 2010;38(1):77-82.
  11. An Attempt to Standardize Kurjak's Antenatal Neurodevelopmental Test: Osaka Consensus Statement. DSJUOG 2012 Oct-Dec;5(4):317-329.
  12. Ultrasound of fetal Syndromes. 2nd ed. Churchill Livingstone, 2008. Chapter 1, Differential Diagnoses; Chapter 2, Syndromes. pp. 672.
  13. Recognition of the Cornelia de Lange Syndrome Phenotype with Facial Dysmorphology Novel Analysis. Clin Gene 2015 Dec 13.
  14. Smith's Recognizable Patterns of Human Malformations. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.
  15. Is Kurjak Antenatal Neurodevelopmental Test Ready for Routine Clinical Application? Bucharest Consensus Statement. DSJUOG 2015 Jul-Sep;9(3):260-265.
  16. ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2013 Jan;41(1):102-113.
  17. Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’., Ultrasound Obstet Gynecol 2007 Jan;29(1):109-116.
  18. Sonoembryology: an organ oriented approach using a high-frequency vaginal probe. J Clin Ultrasound 1990 May;18(4):286-289.
  19. Neuroanatomy visualisation by 2D and 3D. In: Pooh RK, Kurjak A, editors. Fetal neurology. New Delhi: Jaypee Brothers Medical Publisers (P) Ltd.; 2009. p. 15-38.
  20. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida Ultrasound Obstet Gynecol 2010 Feb;35(2):133-138.
  21. Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 1986 Jul;2(8498):72-74.
  22. Evaluation of the lemon and banana signs in one hundred and thirty fetuses with open spina bifida. Am J Obstet Gynecol 1990 Feb;162(2):322-327.
  23. 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.
  24. Prenatal diagnosis of open and closed spina bifida. Ultrasound Obstet Gynecol 2006 Dec;28(7):899-903.
  25. ; Sonek J. Donald School Textbook of Ultrasound in Obstetrics and Gynecology. In: Kurjak A, Chervenak FA, editors. 3rd ed. New Delhi: Jaypee Medical Publishers (P) Ltd., 2011. Chapter 12, First-trimester ultrasound screening for fetal anomalies. pp. 174-188.
  26. Frontomaxillary facial angle at 11+ 0 to 13 + 6 weeks: effect of plane of acquisition. Ultrasound Obstet Gynecol 2007 Jun; 29(6):660-665.
  27. Prune-belly syndrome versus posterior Urethral valve. DSJUOG 2010 Oct-Dec;4(4):405-417.
  28. Objective diagnosis of micrognathia in the fetus: the Jaw index. Obstet Gynecol 1999 Mar;93(3):382-386.
  29. Assessment of Fetal Central Nervous System. DSJUOG 2013 Oct-Dec;7(4):369-384.
  30. Two-dimensional and three-dimensional ultrasound in the evaluation of normal and abnormal fetal anatomy in the second and third trimesters in a level III center. Ultraschall Med 2005 Feb;26(1):9-16.
  31. Three-dimensional/four-dimensional ultrasound in prenatal diagnosis: is it time for routine use? Clin Obstet Gynecol 2012 Mar;55(1):336-351.
  32. Three- and four-dimensional ultrasound in obstetrics and gynecology: proceedings of the American Institute of Ultrasound in Medicine Consensus Conference. J Ultrasound Med 2005 Dec; 24(12):1587-1597.
  33. Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review. Ultrasound Obstet Gynecol 2010 Apr;35(4):459-502.
  34. Accuracy of prenatal three-dimensional ultrasound in the diagnosis of cleft hard palate when cleft lip is present. Ultrasound Obstet Gynecol 2011 Oct;38(4):440-444.
  35. Robin Sequence: From Diagnosis to Development of an Effective Management Plan. Pediatrics 2011 May;127(5):936-948.
  36. First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome. Ultrasound Obstet Gynecol 2003 Jun;21(6):616-618.
  37. Isolated Versus Pierre Robin Sequence Cleft Palates: Are They Different? Cleft Palate Craniofac J 2014 Jul;51(4):406-411.
  38. Robin Sequence: Clearing Nosologic Confusion. Cleft Palate Craniofac J 2010 Mar;47(2):197-200.
  39. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 2006 Jun;70(6):973-980.
  40. ; Shiota, K.; Kurjak, A. Donald School Textbook of Ultrasound in Obstetrics and Gynecology. In: Kurjak A, Chervenak FA, editors. 3rd ed. New Delhi: Jaypee Medical Publishers (P) Ltd., 2011. Chapter 33, Three-dimensional sonoembryology. pp. 540-547.
  41. Assessment of the facial features and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population. Am J Obstet Gynecol 2004 Feb;190(2):541-546.
  42. Maxillary length at 11–14 weeks of gestation in fetuses with trisomy 21. Ultrasound Obstet Gynecol 2004 Jul;24(1):19-22.
  43. ; Bromley, B. Ultrasound of fetal syndromes. In: Benacerraf BR, editor. 2nd ed. Churchill Livingstone, 2008. Chapter 2, syndromes pp. 490-495. Chapter 3, Sonographic fetal findings with borderline significance-the grey zone in fetal diagnosis. pp 575-576.
  44. Craniofacial dysmorphology and three-dimensional ultrasound: a prospective study on practicability for prenatal diagnosis. Prenat Diagn 2003 Oct;23(10):810-818.
  45. ; Neil, A. Practical Renal Pathology, A Diagnostic Approach: A Volume in the Pattern Recognition Series. Philadelphia: Elsevier Health Sciences; 2012 Sep 7. p. 27.
  46. Prenatal diagnosis of fetal multicystic dysplastic kidney with two-dimensional and three-dimensional ultrasound. Ultrasound Med Biol 2002 Jul 1;28(7):853-858.
  47. Prenatal Detection of Fetal Anomalies at the 11- to 13-week Scan—Part I: Brain, Face and Neck. DSJUOG 2013 Jan;7(4):359-368.
  48. Closure of the cerebellar vermis: Evaluation with second trimester US. Radiology 1994 Dec;193(3):761-763.
  49. Recombination and maternal age-dependent nondisjunction: molecular studies of trisomY 16. Am J Hum Gene 1995 Oct;57(4):867-874.
  50. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 1992 Sep 19;340(8821):704-707.
  51. Isolated fetal choroid plexus cyst and trisomy 18: a review and meta-analysis. Am J Obstet Gynecol 1995 Jan;172(1 Pt 1):83-87.
  52. End-of-life decision before and after birth: changing ethical considerations. J Pediatr Surg 2008 Mar;43(3):430-436.
  53. When newborn infants are bound to die. Acta Paediatr 2005 Nov;94(11):1535-1537.
  54. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol 2003 May;21(5):467-472.
  55. Qualified and trained sonographers in the US can perform early fetal anatomy scans between 11 and 14 weeks. Am Obstet Gynecol 2004 Oct;191(4):1247-1252.
  56. Routine ultrasound in late pregnancy (after 24 weeks’ gestation). Cochrane Database Syst Rev 2008 Oct;8(4):CD001451.
  57. Feasibility of the second-trimester fetal ultrasound examination in an unselected population at 18, 20 or 22 weeks of pregnancy: a randomized trial. Ultrasound Obstet Gynecol 1999 Aug;14(2):92-97.
  58. Cytomegalovirus-related fetal brain lesions: comparison between targeted ultrasound examination and magnetic resonance imaging. Ultrasound Obstet Gynecol 2008 Dec;32(7):900-905.
  59. Parvovirus B19 infection in human pregnancy. BJOG 2011 Jan;118(2):175-186.
  60. Current Role of 3D/4D sonography in obstetrics and gynecology. DSJUOG 2013 Jan;7(4):400-408.
  61. Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings. Am J Neuroradiol 2003 Jan;24(1):28-32.
  62. Sonographic evaluation of pregnancies with maternal varicella infection. J Ultrasound Med 1992 Sep;11(9):459-463.
  63. Ultrasound characteristics of in utero infection. Infect Dis Obstet Gynecol 1997;5(3): 262-270.
  64. Prenatal diagnosis of fetal syndromes. Indian J Radiol Imaging 2008 Nov;18(4):345-349.
  65. Role of second-trimester genetic sonography after Down syndrome screening. Obstet Gynecol 2009 Dec;114(6):1189-1196.
  66. 15 years of surveillance of congenital anomalies in Europe 1980-1994. Scientific Institute of Public Health, Louis Pasteur: Brussels; 1997. p. 251.
  67. Ultrasound screening for fetal abnormalities. Prenat Diagn 1995 Dec;15(13):1241-1257.
  68. End-of-life decision before and after birth: changing ethical considerations. J Pediatr Surg 2008 Mar;43(3):430-436.
  69. Ethical challenges in fetal surgery. Med Ethics 2011 Feb;37(2):88-91.
  70. Congenital Malformations: Evidencebased evaluation and management 1st ed. New York: McGraw-Hill Medical; 2008. pp. 408.
  71. Evaluation of routine prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 1995 Sep;15(9):791-800.
  72. Routine ultrasound screening of congenital anomalies. An overview of the European experience. Ann NY Acad Sci 1998 Jun;847:173-180.
  73. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol 2001 May;17(5):386-391.
  74. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultasonographic examination in Europe. Prenat Diagn 2001 Apr;21(4):243-252.
  75. Evaluation of Prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. Euroscan study group. Prenat Diagn 2000 Nov;20(11):870-875.
  76. Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries. Prenat Diagn 2002 Jul;22(7):616-623.
  77. The Euroscan Study Group. Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol 2001 Oct;18(4):309-316.
  78. The Euroscan Study Group. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe. Ultrasound Obstet Gynecol 2003 Jun;21(6):543-551.
  79. no. b497 V/1962, Br. 1990: 568 | CL: 457, From: Vincent van Gogh To: Theo van Gogh, Date: Antwerp, on or about Monday, 22 February 1886.
  80. Donald School Atlas of Advanced Ultrasound in Obstetrics and Gynecology. 1st ed. New Delhi: Jaypee Brothers Medical Publishers (P) Ltd.; 2015 Sept. pp. 896.
  81. Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects. Am J Med Genet 1988 Feb;29(2):289-291.
  82. Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat Diagn 1987 Oct;7(8):551-555.
  83. ISUOG Practice Guidelines (updated): sonographic screening examinationof the fetal heart. Ultrasound Obstet Gynecol 2013 Mar;41(3):348-359.
  84. Withholding treatment, withdrawing treatment, and palliative care in the neonatal intensive care unit. Early Hum Dev 2005 Dec;81(12):965-972.
  85. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am J Obstet Gynecol 2007 Jan;196(1):16-28.
  86. Ultrasonographic evaluation of fetal face by 3D/4D sonography. DSJUOG, 2008 Oct-Dec;2(4):45-57.
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