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VOLUME 11 , ISSUE 1 ( January-March, 2017 ) > List of Articles

REVIEW ARTICLE

Ultrasound Markers of Aneuploidy in the First Trimester

Zoran Belics, Zoltán Papp

Keywords : Aneuploidy,First trimester,Marker,Screening,Ultrasound

Citation Information : Belics Z, Papp Z. Ultrasound Markers of Aneuploidy in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2017; 11 (1):20-28.

DOI: 10.5005/jp-journals-10009-1501

License: CC BY-NC 4.0

Published Online: 01-09-2015

Copyright Statement:  Copyright © 2017; The Author(s).


Abstract

How to cite this article

Belics Z, Papp Z. Ultrasound Markers of Aneuploidy in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2017;11(1):20-28.

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  1. Screening for fetal anomalies in the 12th week of pregnancy by transvaginal sonography in an unselected population. Prenat Diagn 1997 Aug;17(8):753-759.
  2. A sonographic sign for the detection in the second trimester of the fetuses with Down's syndrome. Am J Obstet Gynecol 1985 Apr;151(8):1078-1079.
  3. Fetal nuchal translucency screening for chromosomal defects in first trimester of pregnancy. BMJ 1992 Apr;304(6831):867-869.
  4. Society of Maternal-Fetal Medicine. First-trimester sonographic screening for Down syndrome. Obstet Gynecol 2003 Nov;1025 Pt 1:1066-1079.
  5. Fetal nuchal translucency: a need to understand the physiological basis. Ultrasound Obstet Gynecol 1995 Jan;5(1):6-8.
  6. Pathophysiology of increased nuchal translucency in chromosomally abnormal fetuses. Prenat Neonat Med 19994:431-440.
  7. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001 Jul;18(1):9-17.
  8. Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am J Med Genet 1997 Mar;69(2):207-216.
  9. New ultrasonographic markers of aneuploidies: nasal bones. Ultrasound Rev Obstet Gynecol 20022:229-234.
  10. Collagen type IV gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol 1998 Mar;91(3):319-323.
  11. 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 (Berl) 1998 Feb;197(2):105-124.
  12. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Lancet 1998 Aug;352(9125):343-346.
  13. Correct estimation of parameters for ultrasound nuchal translucency screening. Prenat Diagn 1998 May;18(5):519-523.
  14. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 2000 Aug;96(2):207-213.
  15. One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester. BJOG 2000 Oct;107(10):1271-1275.
  16. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999 Apr;13(4):231-237.
  17. Nuchal translucency measurements for first-trimester screening: the “price” of inaccuracy. Fetal Diagn Ther 2007 Jul;22(6):401-404.
  18. Assessment of risk for chromosomal abnormalities at 10-14 weeks of gestation by nuchal translucency and maternal age in 5210 fetuses carried out at a single center. Fetal Diagn Ther 2000 May-June;15(3):170-173.
  19. Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review. Eur J Obstet Gynecol Reprod Biol 1997 Jan;71(1):3-10.
  20. Congenital cystic hygroma of the neck diagnosed prenatally: outcome with normal and abnormal karyotype. Prenat Diagn 1989 May;9(5):321-327.
  21. First-trimester simple hygroma: cause and outcome. Am J Obstet Gynecol1993 Jan;1681 Pt 1:156-161.
  22. Genetics of sonographically detected intrauterine fetal cystic hygromas. J Can Assoc Radiol 1984 Mar;35(1):77-79.
  23. Cystic hygromata in trisomy 18 and 21. Prenat Diagn 1984 Sep-Oct;4(5):371-375.
  24. The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma. Prenat Diagn 1987 May;7(4):299-301.
  25. Transvaginal ultrasound detection of septated and non-septated cystic hygroma in early pregnancy. Fetal Diagn Ther 1997 May-Jun;12(3):132-135.
  26. Ultrasound screening for fetal chromosome anomalies. Am J Med Genet 2000 Jan;90(2):98-107.
  27. First trimester growth patterns of aneuploid fetuses. Prenat Diagn1997 Feb;17(2):155-159.
  28. Prenatal diagnosis of trisomy 18 at the 10-14 week ultrasound scan. Ultrasound Obstet Gynecol 1997 Dec;10(6):387-390.
  29. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet 1996 Nov;65(4):332-336.
  30. 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.
  31. The functional matrix. In: Kraus BS, Riedel TA, editors. Vistas in Orthodontics. Philadelphia: Lea and Febiger; 1962
  32. Maternal ethnic origin and fetal nasal bones at 11-14 weeks of gestation. BJOG 2004 Feb;111(2):109-112.
  33. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am J Obstet Gynecol 2002 Jan;186(1):139-141.
  34. Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn 2002 Oct;22(10):930-932.
  35. Auditing fetal nasal bone images in the first trimester of pregnancy: results from a peer review program. J Matern Fetal Neonatal Med 2016 Sep;29(17):2874-2877.
  36. Pattern of malformation in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 1997 Feb;68(4):466-471.
  37. Pituitary gland and sellaturcica in human trisomy 21 fetuses related to axial skeletal development. Am J Med Genet 1998 Dec;80(5):494-500.
  38. Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations. Am J Med Genet 2000 Feb;90(5):427-429.
  39. Understanding craniofacial anomalies. New York, NY: Wiley-Liss; 2002 p. 50-54.
  40. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses. Hum Reprod 2000 May;15(5):1155-1158.
  41. Absence of nasal bone and detection of trisomy 21. Lancet 2002 Apr;359(9314):1343
  42. First trimester spontaneous resolution of megacystis in Down syndrome fetus. Prenat Diagn 2001 Sep;21(9):790-791.
  43. Assessment of fetal anatomy at 12 to 13 weeks of gestation by transabdominal and transvaginal sonography. Br J Obstet Gynaecol 1996 Jan;103(1):82-85.
  44. Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1996 Dec;8(6):387-390.
  45. Early fetal megacystis between 11 and 15 weeks of gestation. Ultrasound Obstet Gynecol 1999 Dec;14(6):402-406.
  46. Megacystis at 10-14 weeks of gestation: chromosomal defects outcome according to bladder length. Ultrasound Obstet Gynecol 2003 Apr;21(4):338-341.
  47. Doppler assessment of the normal early fetal circulation. Ultrasound Obstet Gynecol 1992 Jul;2(4):300-305.
  48. Prenatal ultrasonographic assessment of the ductus venosus: a review. Obstet Gynecol 1996 Oct;88(4 Pt 1):626-632.
  49. 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 Apr;17(4):288-294.
  50. Umbilical artery pulsatility index in early pregnancies with chromosome anomalies. Br J Obstet Gynaecol 1996 Apr;103(4):330-334.
  51. First trimester umbilical artery pulsatility index in fetuses presenting enlarged nuchal translucency. Prenat Diagn 2000 Sep;20(9):701-704.
  52. The umbilical artery pulsatility index in the first trimester: is there an association with increased nuchal translucency or chromosomal abnormality? Ultrasound Obstet Gynecol 1998 Oct;12(4):244-247.
  53. Fetal heart rate and umbilico-placental Doppler flow velocity waveforms in early pregnancies with a chromosomal abnormality and/or an increased nuchal translucency thickness. Hum Reprod 1996 Feb;11(2):435-439.
  54. Embryonic heart rate in dated human embryos. Early Hum Dev 1994 May;37(2):107-115.
  55. Fetal heart action in early pregnancy. Development of fetal vagal function. Eur J Obstet Gynecol 1972 Dec;2(2):55-63.
  56. Fetal heart rate in trisomy 21 and other chromosomal abnormalities at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1996 Apr;7(4):239-244.
  57. First-trimester umbilical cord diameter: a novel marker of fetal aneuploidy. Ultrasound Obstet Gynecol 2002 Mar;19(3):235-239.
  58. Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy. Ultrasound Obstet Gynecol 1996 Feb;7(2):95-100.
  59. First and early second-trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography. Prenat Diagn 1990 Oct;10(10):653-666.
  60. Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol 1990 Jul;76(1):58-60.
  61. Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted? Obstet Gynecol 1992 May;795 Pt 1:770-772.
  62. The significance of choroid plexus cysts, echogenic heart fociand renal pyelectasis in the first trimester. Ultrasound Obstet Gynecol 1998 Dec;12(6):385-390.
  63. Early development of the hindbrain: a longitudinal ultrasound study from 7 to 12 weeks of gestation. Ultrasound Obstet Gynecol 1995 Mar;5(3):151-160.
  64. Fetal chorioid plexuscysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age. Prenat Diagn 1994 Dec;14(12):1119-1127.
  65. Clinical significanceof fetal choroids plexus cysts. Lancet 1995 Sep;346(8977):724-728.
  66. Choroid plexuscysts: not associated with Down syndrome. Ultrasound Obstet Gynecol 1996 Oct;8(4):232-235.
  67. The iliac angle as a sonographic marker for Down syndrome in second-trimester fetuses. Obstet Gynecol 1997 Mar;89(3):446-450.
  68. Sonographic measurement of the fetal iliac angle in trisomy 21,18 and 13. Fetal Diagn Ther 2003 Jan-Feb;18(1):47-50.
  69. Iliac wing angle as a marker for trisomy 21 in the second trimester. Obstet Gynecol 1997 May;89(5 Pt 1):734-737.
  70. Sonographic measurement of the fetal iliac angle cannot be used alone as a marker for trisomy 21. Fetal Diagn Ther 2000 Jan-Feb;15(1):41-45.
  71. Prenatal ultrasonographic measurement of the fetal iliac angle during the first and second trimester of pregnancy. Prenat Diagn 2011 Apr;314 351-355.
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