Donald School Journal of Ultrasound in Obstetrics and Gynecology

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


The Genetic Sonogram—Structural Anomalies in the Assessment of Trisomy 21: Case Reports and a Literature Review

Yaron Zalel

Keywords : Genetic sonogram,Down syndrome,Structural abnormalities,Early pregnancy,Ultrasonography

Citation Information : Zalel Y. The Genetic Sonogram—Structural Anomalies in the Assessment of Trisomy 21: Case Reports and a Literature Review. Donald School J Ultrasound Obstet Gynecol 2013; 7 (4):475-480.

DOI: 10.5005/jp-journals-10009-1319

License: CC BY-NC 4.0

Published Online: 01-06-2014

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


How to cite this article

Zalel Y. The Genetic Sonogram— Structural Anomalies in the Assessment of Trisomy 21: Case Reports and a Literature Review. Donald School J Ultrasound Obstet Gynecol 2013;7(4):475-480.

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  1. Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med 2001 Jun;20(6):655-674.
  2. Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects. Am J Med Genet 1988 Feb;29(2):289-291.
  3. Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat Diagn 1987 Oct;7(8):551-555.
  4. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 1992 Sep 19;340(8821):704-707.
  5. Genetic sonography after first-trimester Down syndrome screening. Ultrasound Obstet Gynecol 2007 Jun;29(6):666-670.
  6. Second-trimester genetic sonogram for detection of fetal chromosomal abnormalities in a community-based antenatal testing unit. Ultrasound Obstet Gynecol 2009 Feb;33(2):161-168.
  7. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. Ultrasound Med 2001 Oct;20(10):1053-1063.
  8. The genetic sonogram: comparing the use of likelihood ratios versus logistic regression coefficients for Down syndrome screening. J Ultrasound Med 2011 Apr;30(4):463-469.
  9. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ 1992 Apr;304(6831):867-869.
  10. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 1995 Dec;102(12):957-962.
  11. Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 2006 Jan;107(1):6-10.
  12. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001 Nov;358(9294):1665-1667.
  13. Nasal bone hypoplasia in trisomy 21 at 15-22 weeks’ gestation. Ultrasound Obstet Gynecol 2003 Jan;21(1):15-18.
  14. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 2009 Mar;33(3):259-264.
  15. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol 2004 Dec;104(6):1222-1228.
  16. Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in secondtrimester screening for Down syndrome. Ultrasound Obstet Gynecol 2005 Jan;25(1):19-24.
  17. Smith's recognizable patterns of human malformations. 5th ed. Philadelphia, PA: WB Saunders Co; 1997. p 8-13.
  18. Hand development in trisomy 21. Am J Med Genet 1998 Oct 12;79(5):337-342.
  19. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996 Jun;87(6):948-952.
  20. An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies. J Ultrasound Med 2003 Jan;22(1):33-38.
  21. Hypoplasia of the middle phalanx of the fifth digit. A feature of the second trimester fetus with Down's syndrome. J Ultrasound Med 1990 Jul;9(7):389-394.
  22. Sonographic visualization of the middle phalanx of the fetal fifth digit between 13 and 17 weeks of gestation. Ultrasound Obstet Gynecol 2007 Sep;30(3):263-265.
  23. Three-dimensional sonographic description of abnormal metopic suture in second-and third-trimester fetuses. Ultrasound Obstet Gynecol 2005 Dec;26(7):761-764.
  24. Prenatal diagnosis of wormian bones. J Ultrasound Med 2000 Dec;19(12):863-869.
  25. Wormian bones in a general paediatric population. Diagn Interv Imaging 2013 Apr;94(4):428-432.
  26. Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation. Ultrasound Obstet Gynecol 2003 Dec;22(6):648-651.
  27. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A 2008 Feb;146A(4):453-458.
  28. Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families. Zhonghua Er Ke Za Zhi 2010 Nov;48(11):834-838.
  29. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 2002 Mar;19(3):209-216.
  30. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet 1992 Jun;43(3):612-618.
  31. Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype. Am J Med Genet A 2010 Jul;152A(7):1681-1687.
  32. COL1A1/2-related osteogenesis imperfecta. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2005 Jan 28.
  33. De novo germ line PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones. J Med Genet 2003 Aug;40(8):e92.
  34. Metopic suture in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol 2006 Mar;27(3):286-289.
  35. Textbook of fetal cardiology. 1st ed. London, UK: Greenwich Medical Media; 2000.
  36. Transvaginal sonography of the normal and abnormal fetus. 1st ed. CRC Press; 2001.
  37. Prenatal diagnosis of congenital heart disease and fetal karyotyping. Obstet Gynecol 1993 May;81[5 (Pt 1)]:679-682.
  38. Aberrant right subclavian artery as a new cardiac sign in second-and third-trimester fetuses with Down syndrome. Am J Obstet Gynecol 2005 Jan;192(1):257-263.
  39. Fetal aberrant right subclavian artery in normal and Down syndrome fetuses Ultrasound Obstet Gynecol 2008 Jan;31(1):25-29.
  40. Umbilical vein anomaly in fetuses with Down syndrome. Ultrasound Obstet Gynecol 2010 Mar;35(3):297-301.
  41. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 2001 Feb 28;285(8): 1044-1045.
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