Imaging of Fetal Anomalies



■ Routine ultrasound in early pregnancy (before 24 weeks gestation) is useful for gestational age assessment, identification of multiple pregnancies, and identification of unsuspected fetal anomalies (strong evidence).

■ Routine ultrasound in late pregnancy (after 24 weeks gestation) may not be associated with improvements in overall perinatal mortality though there is a lack of data with regard to long-term neurodevelopmental outcome (moderate evidence).

■ High-risk pregnancies benefit from ultrasound assessment including Doppler ultrasound of umbilical and fetal vessels in late pregnancy with a trend in reduction of perinatal deaths (moderate to strong evidence).

■ The accuracy of ultrasound in the evaluation of fetal anomalies is influenced by the skill of the sonographer, quality of equipment, prevalence of a defect, gestational age of the fetus, maternal body habitus, oligohydramnios, and examination protocol (moderate evidence).

■ MRI evaluation of fetal abnormalities is not limited by fetal lie, oligohydramnios, overlying fat, bone, or air (moderate evidence).

■ MRI can be a useful adjunct in the evaluation of certain fetal anomalies particularly within the brain and chest (limited evidence).

■ No data were found in the medical literature that evaluated the cost-effectiveness of US versus MR in the evaluation of fetal anomalies (limited evidence).

■ MRI using higher strength magnets (≥3 T) and Doppler ultrasound in the first trimester should be minimized due to theoretical risks (US moderate evidence, MRI limited evidence).


Umbilical Artery Congenital Diaphragmatic Hernia Specific Absorption Rate Fetal Anomaly Fetal Magnetic Resonance Image 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Morrison I. Semin Perinatol 1985; 9:144.PubMedGoogle Scholar
  2. 2.
    Liu S, Joseph KS, Kramer MS et al. JAMA 2002; 287(12): 1561–1567.PubMedCrossRefGoogle Scholar
  3. 3.
    Hamilton BE, Minino AM, Martin JA et al. 2007; 119(2):345–360.Google Scholar
  4. 4.
    Waitzman NJ, Romano PS, Scheffler RM. Inquiry 1994; 31:188–205.PubMedGoogle Scholar
  5. 5.
    Waitzman NJ, Romano PS, Scheffler RM et al. MMWR Morb Mortal Wkly Rep 1995; 44: 694–699.Google Scholar
  6. 6.
    Pryde PG, Isada NB, Hallak M et al. Obstet Gynecol 1992; 80:52–59.PubMedGoogle Scholar
  7. 7.
    Saari-Kemppainen A, Karjalainen O, Ylostalo P et al. Lancet 1990; 336:387–391.PubMedCrossRefGoogle Scholar
  8. 8.
    Beazoglou T, Heffley D, Kyriopoulos J et al. Prenat Diagn 1998; 18:1241–1252.PubMedCrossRefGoogle Scholar
  9. 9.
    Vintzileos AM, Ananth CV, Smulian JC et al. Am J Obstet Gynecol 2000; 182(3):655–660.PubMedCrossRefGoogle Scholar
  10. 10.
    Ewigman BG, Crane JP, Frigoletto FD et al. N Engl J Med 1993; 329:821–827.PubMedCrossRefGoogle Scholar
  11. 11.
    LeFevre ML, Bain RP, Ewigman BG et al. Am J Obstet Gynecol 1993; 169:483–489.PubMedGoogle Scholar
  12. 12.
    Crane JP, LeFevre ML, Winborn RC et al. Am J Obstet Gynecol 1994; 171:392–399.PubMedGoogle Scholar
  13. 13.
    Van Dorsten JP, Hulsey TC, Newman RB et al. Am J Obstet Gynecol 1998; 178(4):742–749.CrossRefGoogle Scholar
  14. 14.
    Leivo T, Tuominen R, Saari-Kemppainen A et al. Ultrasound Obstet Gynecol 1996; 7:309–314.PubMedCrossRefGoogle Scholar
  15. 15.
    Neilson JP. Cochrane Database of Systematic Review 1995, Issue 2, Art No: CD000182DOI:10.1002/14651858.Google Scholar
  16. 16.
    Bricker L, Neilson JP. Cochrane Database of Systematic Review 2007, 18(2): nCD001451.Google Scholar
  17. 17.
    Parer J. Am J Obstet Gynecol 2003; 188;6–12.CrossRefGoogle Scholar
  18. 18.
    ACOG Committee Opinion. Number 297. Obstet Gynecol 2004 Aug; 104(2):423–424.Google Scholar
  19. 19.
    Bakketeig LS, Jacobson G, Brodtkorb CJ et al. Lancet 1984; 2:207–211.PubMedCrossRefGoogle Scholar
  20. 20.
    Eik-Nes SH, Okland O, Aure JC et al. Lancet 1984:11:347.Google Scholar
  21. 21.
    Bennett MJ, Little GH, Dewhurst J et al. Br J Obstet Gynaecol 1988; 89:338–341.Google Scholar
  22. 22.
    Neilson JP, Munjanja SP, Whitfield Cr. BMJ 1984:289;1179–1182.PubMedCrossRefGoogle Scholar
  23. 23.
    Secher NJ, Hansen PK, Lenstrup C et al. Br J Obstet Gynaecol 1987; 94:105–109.PubMedGoogle Scholar
  24. 24.
    Waldenstrom U, Nilsson S, Fall O et al. Lancet 1988:2;585–588.PubMedCrossRefGoogle Scholar
  25. 25.
    Ewigman B, LeFebre M, Hesser J. Obstet Gynecol 1990; 76:189–194.PubMedGoogle Scholar
  26. 26.
    Bucher H, Schmidt JG. BMJ 1993 Jul 3; 307(6895):13–17.PubMedCrossRefGoogle Scholar
  27. 27.
    Thomas DF. Prenat Diagn 2001; 21:1001–1004.CrossRefGoogle Scholar
  28. 28.
    Harman C, Baschet A. Curr Opin Obstet Gynecol 2003; 15:147.PubMedCrossRefGoogle Scholar
  29. 29.
    Detti L, Akiyama M, Mari G. Curr Opin Obstet Gynecol 2002; 14:587.PubMedCrossRefGoogle Scholar
  30. 30.
    Fleischer A, Schumlman H, Farmakides G. Am J Obstet Gynecol 1986; 154:806.PubMedGoogle Scholar
  31. 31.
    Thompson RS, Trudinger BJ. Ultrasound Med Biol 1990; 16:449.PubMedCrossRefGoogle Scholar
  32. 32.
    Neilson JP, Alfirevic Z. Cochrane Database Syst Rev 2000; (2):CD000073.Google Scholar
  33. 33.
    Westergaard HB, Langhoff-Roos J, Lingman G et al. Ultrasound Obstet Gynecol 2001; 17:46.CrossRefGoogle Scholar
  34. 34.
    Wladimiroff JW, Wijingaard JAGW, Degani S. Obstet Gynecol 1987; 69:705.PubMedGoogle Scholar
  35. 35.
    Wienerroither H, Steiner H, Tomaselli J et al. Obstet Gynecol 2001 97:449.PubMedCrossRefGoogle Scholar
  36. 36.
    Kurschera J, Tomaselli J, Urlesberger B et al. Early Human Development 2002; 29:47.CrossRefGoogle Scholar
  37. 37.
    Quinn T, Hubbard A, Adzick NS. J Pediatr Surg 1998; 33:553–558.PubMedCrossRefGoogle Scholar
  38. 38.
    Breysem L, Bosmans H, Dymarkowski S et al. Eur Radiol 2003; 13:1538–1548.PubMedCrossRefGoogle Scholar
  39. 39.
    Frates MC, Kumar AJ, Benson CB et al. Radiology 2004; 232:398–404.PubMedCrossRefGoogle Scholar
  40. 40.
    Levine D, Barnes PD, Madsen JR et al. Radiology 1997; 204:635–642.PubMedGoogle Scholar
  41. 41.
    Poatamo J, Vanninen R, Partanen K et al. Ultrasound Obstet Genocol 1999; 13(5):327–349.CrossRefGoogle Scholar
  42. 42.
    Malinger G, Ben Sira L, Lev D et al. Ultrasound Obstet Gynecol 2004; 23:333–340.PubMedCrossRefGoogle Scholar
  43. 43.
    Whitby E, Paley Davie, MN, Spigg A et al. Br J Obstet Gynecol 2001; 106:519–526.CrossRefGoogle Scholar
  44. 44.
    Glenn O, Goldstein R, Li K et al. J Ultrasound Med 2005; 24:791–804.PubMedGoogle Scholar
  45. 45.
    Patel TR, Bannister CM, Thome J. Eur J Pediatr Surg 2003 Dec ;13(Suppl 1):S18–S22.PubMedGoogle Scholar
  46. 46.
    Benacerraf B, Shipp TD, Bromle B et al. J Ultrasound Med 2007; 26:1513–1522.PubMedGoogle Scholar
  47. 47.
    Matsuoka S, Takeuchi K, Yamanaka Y et al. Fetal Diagn Ther 2003; 18:447–453.PubMedCrossRefGoogle Scholar
  48. 48.
    Poutamo J, Vanninen R, Partanen K et al. Acta Obstet Gynecol Scand 2000; 79:65–71.PubMedCrossRefGoogle Scholar
  49. 49.
    Cassart M, Massez A, Metens T et al. Am J Roentgenol 2004; 182:689–695.Google Scholar
  50. 50.
    Kremkau WF. In Laurence JH, Tobias CA (eds.). Advances in Biology and Physics, Vol. 3:191. New York: Academic Press, 1984.Google Scholar
  51. 51.
    Stark C, Orleans M, Haverkamp AD et al. Obstetr Gynecol 1984; 63:194–200.Google Scholar
  52. 52.
    Lyons EA, Dyke C, Toms M et al. Radiology 1988; 166:687–690.PubMedGoogle Scholar
  53. 53.
    Bly S, VandenHof MC et al. J Obstet Gynecol Can 2005; 7(6):572–580.Google Scholar
  54. 54.
    AIUM official statements. AIUM reporter November 1993, p. 6.Google Scholar
  55. 55.
    Newnham JP, Doherty DA, Kendall GE, et al. Lancet 2004 Dec 4–10; 364(9450):2038–2044.PubMedCrossRefGoogle Scholar
  56. 56.
    Salveen KA, Vakketig LS, EikNes SH et al. Lancet 1992:339;85–89.CrossRefGoogle Scholar
  57. 57.
    Sulvesen K, Eik-Nes SH. Ultrasound Obstet Gynecol 1999 13:241–246.CrossRefGoogle Scholar
  58. 58.
    Kieler H, Knattingius S, Haglund B et al. Epidemiology 2001:12:618–621.PubMedCrossRefGoogle Scholar
  59. 59.
    Duck FA, Martin K. Phys Med Biol 1991; 36:1423–1432.PubMedCrossRefGoogle Scholar
  60. 60.
    Henderson J Whittingham TA, Dunn T. BMUS Bulletin Nov 1997:10–14.Google Scholar
  61. 61.
    Hand JW, Li Y, Thomas EL et al. Magn Reson Med 2006; 55:883–893.PubMedCrossRefGoogle Scholar
  62. 62.
    Shellock FG, Kanal E. JMRI 1991; 1:97–101.PubMedCrossRefGoogle Scholar
  63. 63.
    Yip YP, Capriotti C, Tlagala SL et al. J Magn Reson Imaging 1994; 4:742–748.PubMedCrossRefGoogle Scholar
  64. 64.
    Yip YP, Capriotti C, Yip JW. J Magn Reson Imaging 1995; 5:457–462.PubMedCrossRefGoogle Scholar
  65. 65.
    Mevissen M, Buntenkotter S, Loscher W. Teratology 1994; 50:229–237.PubMedCrossRefGoogle Scholar
  66. 66.
    Magin RL, Lee JK, Klintsova A et al. J Magn Reson Imaging 2000; 12:140–149.PubMedCrossRefGoogle Scholar
  67. 67.
    Myers C, Duncan KR, Gowland PA et al. Br J Radiol 1998; 71:549–551.PubMedGoogle Scholar
  68. 68.
    Glover P, J Hykin, Gowland PA et al. Br J Radiol 1995; 68:1090–1094.PubMedCrossRefGoogle Scholar
  69. 69.
    Baker P, Johnson I, Harvey R et al. Am J Obstet Gynecol 1994; 170:32–33.PubMedGoogle Scholar
  70. 70.
    Clements H, Duncan KR, Fielding K et al. Br J Radiol 2000; 73:190–194PubMedGoogle Scholar
  71. 71.
    Kok RD, de Vries MM, Heerschap A et al. Magn Reson Imaging 2004; 22:851–854.PubMedCrossRefGoogle Scholar
  72. 72.
    De Wilde JP, Rivers AW, Price DU et al. Prog Biophys Mol Biol 2005; 87:335–353.PubMedCrossRefGoogle Scholar
  73. 73.
    Kanal E, Borgstede JP, Barkovich AJ et al. Am J Roentgenol 2002; 178:1335–1347.Google Scholar
  74. 74.
    Lys S, DeWals P, Grimee P et al. Eur J Obstet Gynecol Reprod Biol 1989 30:101–109.PubMedCrossRefGoogle Scholar
  75. 75.
    Li TM, Greenes RA, Weisbjurg M et al. Med Decis Making 1988 8 48–54.PubMedCrossRefGoogle Scholar
  76. 76.
    Levi S, Crouzeere P Schapps FP et al. US screening for fetal malformations Lancet 1989; 1:679.Google Scholar
  77. 77.
    Shirley IM, Bottomley F, Robindson VP. Br J Radiol 1992; 65:564–569.PubMedCrossRefGoogle Scholar
  78. 78.
    Chitty LS Hung AGGH, Moore J et al. BMJ 1992; 303:1165–1169.CrossRefGoogle Scholar
  79. 79.
    Levi S, Montenagro N. Ann NY Acad Sci 1998; 847:103–117.PubMedCrossRefGoogle Scholar
  80. 80.
    Sabbagha RE Sheikh Z, Tamura RK. AM J OBstet Gynecol 1985; 152:822–827.PubMedGoogle Scholar
  81. 81.
    Crane JP Lefevre ML, Winborn RC et al. AM J Obsete gyncol 1994:171;392–399.Google Scholar
  82. 82.
    Garne E, Loane M, Dolk H et al. Ultrasound Obstet Gynecol 2005 Jan ; 25(1):6–11.PubMedCrossRefGoogle Scholar
  83. 83.
    Tilea B, Delezoide A, Khung-Savatovski S et al. US OB Gyn 2007; 29:651–659.CrossRefGoogle Scholar
  84. 84.
    Van Dorsten JP, Hulsey TC, Newman RB, Menard MK. Am J Obstet Gynecol 1998 Apr ; 178(4):742–749.CrossRefGoogle Scholar
  85. 85.
    Kaiser L et al. Prenatal Diagn 2000; 20:970–975.CrossRefGoogle Scholar
  86. 86.
    Azoulay R, Fallet Bianco C, Garel C et al. Pedatr Radiol 2006 36:97–107.CrossRefGoogle Scholar
  87. 87.
    Simon EM, Goldstein RB. Am J Neuroradiol. 2000; 21:1688–1698.Google Scholar
  88. 88.
    de Laveaucoupet J, Audibert F, Guis F et al. Prenat Diagn 2001; 21:729–736.PubMedCrossRefGoogle Scholar
  89. 89.
    Whitby EH, Paley MNJ, Sprigg A et al. BJOG 2004; 111:784–792.PubMedCrossRefGoogle Scholar
  90. 90.
    Kirkinen P, Partnaen K, Merikanto J et al. Acta Obstetricia et Gynecologic Scandinavia 1997; 76:917–922.CrossRefGoogle Scholar
  91. 91.
    Glenn OA, Barkovich J. Am J Neuroradiol 2006; 27:1807–1814.PubMedGoogle Scholar
  92. 92.
    Levine D, Trop I, Mehta TS, Barnes PD. Radiology 2002; 223:652–660.PubMedCrossRefGoogle Scholar
  93. 93.
    Leitner Y, Goez H, Gull I et al. J Child Neurol 2004:19:435–438.PubMedGoogle Scholar
  94. 94.
    Patel TR, Bannister CM, Thorne J. Eur J Pedatir Surg 2003; 13(Suppl 1):S18–S22.Google Scholar
  95. 95.
    Chong BW, Babcook CJ, Pang D et al. Neurosurgery 1997; 41:924–928.PubMedCrossRefGoogle Scholar
  96. 96.
    Coakley FV, Hricak H, Filly RA et al. Radiology 1999; 213:691–696.PubMedGoogle Scholar
  97. 97.
    Ouahba J, Luton D, Vuillard E et al. BJOG 2006; 113:1072–1079.PubMedCrossRefGoogle Scholar
  98. 98.
    Triulzi F, Parazzini C, Righini A. Semin Fetal Neonatal Med 2005; 10:411–420.PubMedGoogle Scholar
  99. 99.
    Blaicher W, Bernaschek G, Deutinger J et al. J Perinat Med 2004;3253–3257.Google Scholar
  100. 100.
    Seibert JR. Birth Defects Res A Clin Mol Teratol 2006; 76:674–684.CrossRefGoogle Scholar
  101. 101.
    Bekker MN, van Vugt JMG. Eur J Obstet Gynecol Reprod Biol 2001; 96:173–178.PubMedCrossRefGoogle Scholar
  102. 102.
    Ghai S, Fong KW, Toi A et al. RadioGraphics 2006 26:389–405.PubMedCrossRefGoogle Scholar
  103. 103.
    Girard N, Chaumoitre K, Confort-Gouny S et al. Curr Opin Obstet Gynecol 2006; 18:164–176.PubMedCrossRefGoogle Scholar
  104. 104.
    Garel C. Pediatr Radiol 2004; 34:694–699.PubMedCrossRefGoogle Scholar
  105. 105.
    Valsky DV, Ben-Sira L, Porat S et al. J Ultrasound Med 2004; 23:519–523.PubMedGoogle Scholar
  106. 106.
    Hedrick HL, Flake AW, Crombleholme TM et al. J Pediatr Surg 2004 Mar ; 39(3):430–438.PubMedCrossRefGoogle Scholar
  107. 107.
    ACR Practice Guideline for the Performance of MRI of the Soft Tissue Components of the Pelvis. Reston, VA: ACR Amended 2006.Google Scholar
  108. 108.
    Levine D, Barnes PD, Robertson RR et al. Radiology 2003; 229:51–61.PubMedCrossRefGoogle Scholar
  109. 109.
    Kline-Fath BM, Calvo-Garcia MA, O’Hara SM et al. Pediatr Radiol 2007 Jan ; 37(1):47–56.PubMedCrossRefGoogle Scholar
  110. 110.
    Weiss JL, Cleary-Goldman J, Tanji K et al. Am J Obstet Gynecol 2004 Feb ; 190(2):563–565.PubMedCrossRefGoogle Scholar
  111. 111.
    Hu LS,Caire J, Twickler DH et al. Pediatr Radiol 2006 Jan ; 36(1):76–81.PubMedCrossRefGoogle Scholar
  112. 112.
    Mota R, Ramalho C, Monteiro J et al. Fetal Diagn Ther 2007; 22(2):107–111.PubMedCrossRefGoogle Scholar
  113. 113.
    Bouvenot GG, Mourot MG, Sonigo P et al. Ultrasound Obstet Gynecol 2005; 26(7):738–744.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Diagnostic Imaging and RadiologyGeorge Washington University School of Medicine and Health Sciences, Children’s National Medical CenterWashingtonUSA

Personalised recommendations