Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 3 , Pages 210-217, September 2009

Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (I)

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taichung, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

Accepted 12 August 2009.

Article Outline

Summary 

Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13, including the major structural abnormalities observed during the first trimester (omphalocele, holoprosencephaly, megacystis and congenital heart defects), the frequencies of second- and third-trimester sonographic features reported in previous studies, and the subtle sonographic findings observed during the second trimester (echogenic intra- cardiac foci, echogenic bowel, single umbilical artery, choroid plexus cysts and intrauterine growth restriction).

Key Words:  congenital malformations , prenatal diagnosis , trisomy 13 , ultrasound

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References 

  1. Goldstein H , Nielsen KG . Rates and survival of individuals with trisomy 13 and 18: data from a 10-year period in Denmark . Clin Genet . 1988;34:366–372
  2. Nielsen J , Wohlert M . Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark . Hum Genet . 1991;87:81–83
  3. Wyllie JP , Wright MJ , Burn J , Hunter S . Natural history of trisomy 13 . Arch Dis Child . 1994;71:343–345
  4. Benn PA , Hsu LYF . Prenatal diagnosis of chromosomal abnormalities through amniocentesis . In:  Milunsky A editors. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment . 5th edition. Baltimore: Johns Hopkins University Press; 2004;p. 214–296
  5. Chen CP , Chien SC . Prenatal sonographic features of trisomy 13 . J Med Ultrasound . 2007;15:58–66
  6. Chen CP . Placental abnormalities and preeclampsia in trisomy 13 pregnancies . Taiwan J Obstet Gynecol . 2009;48:3–8
  7. Nicolaides KH , Snijders RJM , Gosden CM , Berry C , Campbell S . Ultrasonographically detectable markers of fetal chromosomal abnormalities . Lancet . 1992;340:704–707
  8. Lehman CD , Nyberg DA , Winter TC , Kapur RP , Resta RG , Luthy DA . Trisomy 13 syndrome: prenatal US findings in a review of 33 cases . Radiology . 1995;194:217–222
  9. De Vigan C , Baena N , Cariati E , Clementi M , Stoll C , EUROSCAN Working Group  . Contribution of ultrasono-graphic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe . Ann Genet . 2001;44:209–217
  10. Tongsong T , Sirichotiyakul S , Wanapirak C , Chanprapaph P . Sonographic features of trisomy 13 at midpregnancy . Int J Gynaecol Obstet . 2002;76:143–148
  11. Papp C , Beke A , Ban Z , Szigeti Z , Toth-Pal E , Papp Z . Prenatal diagnosis of trisomy 13: analysis of 28 cases . J Ultrasound Med . 2006;25:429–435
  12. Watson WJ , Miller RC , Wax JR , Hansen WF , Yamamura Y , Polzin WJ . Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy . J Ultrasound Med . 2007;26:1209–1214
  13. Papageorghiou AT , Avgidou K , Spencer K , Nix B , Nicolaides KH . Sonographic screening for trisomy 13 at 11 to 13+6 weeks of gestation . Am J Obstet Gynecol . 2006;194:397–401
  14. Bronshtein M , Zimmer EZ , Blazer S . The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency . Prenat Diagn . 2008;28:1037–1041
  15. Picklesimer AH , Moise KJ , Wolfe HM . The impact of gestational age on the sonographic detection of aneuploidy . Am J Obstet Gynecol . 2005;193:1243–1247
  16. Wladimiroff JW, Bhaggoe WR, Kristelijn M, Cohen-Overbeek TE, Den Hollander NS, Brandenburg H, et al. Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses . Prenat Diagn . 1995;15:431–438
  17. Nicolaides KH , Snijders RJ , Cheng HH , Gosden C . Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities . Fetal Diagn Ther . 1992;7:102–115
  18. Calzolari E , Volpato S , Bianchi F , et al.   Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries . Teratology . 1993;47:47–55
  19. Paidas MJ , Crombleholme TM , Robertson FM . Prenatal diagnosis and management of the fetus with an abdominal wall defect . Semin Perinatol . 1994;18:196–214
  20. Snijders RJM , Brizot ML , Faria M , Nicolaides KH . Fetal exomphalos at 11 to 14 weeks of gestation . J Ultrasound Med . 1995;14:569–574
  21. Snijders RJM , Sebire NJ , Souka A , Santiago C , Nicolaides KH . Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation . Ultrasound Obstet Gynecol . 1995;6:250–255
  22. St-Vil D, Shaw KS, Lallier M, Yazbeck S, Di Lorenzo M, Grignon A, et al. Chromosomal anomalies in newborns with omphalocele . J Pediatr Surg . 1996;31:831–834
  23. Blazer S , Zimmer EZ , Gover A , Bronshtein M . Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes . Radiology . 2004;232:191–195
  24. Chen CP . Chromosomal abnormalities associated with omphalocele . Taiwan J Obstet Gynecol . 2007;46:1–8
  25. Blaas HGK, Eriksson AG, Salvesen KÅ, Isaksen CV, Christensen B, Møllerløkken G, et al. Brains and faces in holoprosencephaly: pre-and postnatal description of 30 cases . Ultrasound Obstet Gynecol . 2002;19:24–38
  26. Berry SM , Gosden C , Snijders RJM , Nicolaides KH . Fetal holoprosencephaly: associated malformations and chromosomal defects . Fetal Diagn Ther . 1990;5:92–99
  27. Parant O , Sarramon MF , Delisle MB , Fournié A . Antenatal diagnosis of holoprosencephaly: a series of twelve cases . J Gynecol Obstet Biol Reprod (Paris) . 1997;26:687–696 [In French]
  28. Whiteford ML , Tolmie JL . Holoprosencephaly in the west of Scotland 1975–1994 . J Med Genet . 1996;33:578–584
  29. Odent S , Le Marec B , Munnich A , Le Merrer M , Bonaïti-Pellié C . Segregation analysis in nonsyndromic holoprosencephaly . Am J Med Genet . 1998;77:139–143
  30. Croen LA , Shaw GM , Lammer EJ . Holoprosencephaly: epidemiologic and clinical characteristics of a California population . Am J Med Genet . 1996;64:465–472
  31. Nyberg DA , Mack LA , Bronstein A , Hirsch J , Pagon RA . Holoprosencephaly: prenatal sonographic diagnosis . AJR Am J Roentgenol . 1987;149:1051–1058
  32. Chen CP , Chern SR , Lin CJ , Lee CC , Wang W , Tzen CY . A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly . Genet Couns . 2005;16:49–57
  33. Hamada H , Oki A , Tsunoda H , Kubo T . Prenatal diagnosis of holoprosencephaly by transvaginal ultrasonography in the first trimester . Asia Oceania J Obstet Gynaecol . 1992;18:125–129
  34. Sakala EP , Gaio KL . Fundal uterine leiomyoma obscuring first-trimester transabdominal sonographic diagnosis of fetal holoprosencephaly: a case report . J Reprod Med . 1993;38:400–402
  35. Gembruch U , Baschat AA , Reusche E , Wallner SJ , Greiwe M . First trimester diagnosis of holoprosencephaly with a Dandy-Walker malformation by transvaginal ultrasonography . J Ultrasound Med . 1995;14:619–622
  36. van Zalen-Sprock R , van Vugt JM , van der Harten HJ , Nieuwint AW , van Geijn HP . First trimester diagnosis of cyclopia and holoprosencephaly . J Ultrasound Med . 1995;14:631–633
  37. Tongsong T , Wanapirak C , Chanprapaph P , Siriangkul S . First trimester sonographic diagnosis of holoprosencephaly . Int J Gynaecol Obstet . 1999;66:165–169
  38. Turner CD , Silva S , Jeanty P . Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation . Ultrasound Obstet Gynecol . 1999;13:360–362
  39. Wong HS , Lam YH , Tang MHY , Cheung LWK , Ng LKL , Yan KW . First-trimester ultrasound diagnosis of holoprosencephaly: three case reports . Ultrasound Obstet Gynecol . 1999;13:356–359
  40. Hsu TY, Chang SY, Ou CY, Chen ZH, Tsai WL, Chang MS, et al. First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography . Eur J Obstet Gynecol Reprod Biol . 2001;96:235–237
  41. Sepulveda W , Dezerega V , Be C . First-trimester sonographic diagnosis of holoprosencephaly: value of the “butterfly” sign . J Ultrasound Med . 2004;23:761–765
  42. Tongsong T , Khunamornpong S , Wanapirak C , Sirichotiyakul S . Prenatal sonographic diagnosis of truncus arteriosus associated with holoprosencephaly . J Clin Ultrasound . 2005;33:193–196
  43. Tonni G , Centini G . Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus . Am J Perinatol . 2006;23:67–69
  44. Kim MS , Jeanty P , Turner C , Benoit B . Three-dimensional sonographic evaluations of embryonic brain development . J Ultrasound Med . 2008;27:119–124
  45. Timor-Tritsch IE , Monteagudo A , Santos R . Three-dimensional inversion rendering in the first-and early second-trimester fetal brain: its use in holoprosencephaly . Ultrasound Obstet Gynecol . 2008;32:744–750
  46. Tonni G , Ventura A , Centini G , De Felice C . First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus . Congenit Anom (Kyoto) . 2008;48:51–55
  47. Dane B , Dane C , Aksoy F , Yayla M . Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultra-sound . Arch Gynecol Obstet . 2009;280:647–651
  48. Solomon BD , Potocki L , Oyer CE , Muenke M . Holoprosencephaly in an 8.5-week triploidy gestation . Clin Dysmorphol . 2009;18:166–167
  49. Sebire NJ , Von Kaisenberg C , Rubio C , Snijders RJM , Nicolaides KH . Fetal megacystis at 10–14 weeks of gestation . Ultrasound Obstet Gynecol . 1996;8:387–390
  50. Liao AW , Sebire NJ , Geerts L , Cicero S , Nicolaides KH . Megacystis at 10–14 weeks of gestation: chromosomal defects and outcome according to bladder length . Ultrasound Obstet Gynecol . 2003;21:338–341
  51. Favre R , Kohler M , Gasser B , Muller F , Nisand I . Early fetal megacystis between 11 and 15 weeks of gestation . Ultrasound Obstet Gynecol . 1999;14:402–406
  52. Boissier K , Varlet MN , Chauleur C , et al.   Early fetal megacystis at first trimester: a six-year retrospective study . Gynecol Obstet Fertil . 2009;37:115–124 [In French]
  53. Sepulveda W . Megacystis in the first trimester . Prenat Diagn . 2004;24:144–149
  54. Nora JJ , Nora AH . The evolution of specific genetic and environmental counseling in congenital heart diseases . Circulation . 1978;57:205–213
  55. Jones KL . Trisomy 13 syndrome . In:  Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 18–21
  56. Becker R , Wegner RD . Detailed screening for fetal anomalies and cardiac defects at the 11–13-week scan . Ultrasound Obstet Gynecol . 2006;27:613–618
  57. Huggon IC , Ghi T , Cook AC , Zosmer N , Allan LD , Nicolaides KH . Fetal cardiac abnormalities identified prior to 14 weeks' gestation . Ultrasound Obstet Gynecol . 2002;20:22–29
  58. Schechter AG , Fakhry J , Shapiro LR , Gewitz MH . In utero thickening of the chordae tendinae: a cause of intracardiac echogenic foci . J Ultrasound Med . 1987;6:691–695
  59. Levy DW , Mintz MC . The left ventricular echogenic focus: a normal finding . AJR Am J Roentgenol . 1988;150:85–86
  60. Roberts DJ , Genest D . Cardiac histologic pathology characteristic of trisomies 13 and 21 . Hum Pathol . 1992;23:1130–1140
  61. Bromley B , Lieberman E , Shipp TD , Richardson M , Benacerraf BR . Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy . J Ultrasound Med . 1998;17:127–131
  62. Shipp TD , Bromley B , Lieberman E , Benacerraf BR . The frequency of the detection of fetal echogenic intracardiac foci with respect to maternal race . Ultrasound Obstet Gynecol . 2000;15:460–462
  63. Snijders RJM , Farrias M , von Kaisenberg C , Nicolaides KH . Fetal abnormalities . In:  Snijders RJM ,  Nicolaides KH editor. Ultrasound Markers for Fetal Chromosomal Defects . New York: Parthenon Publishing Group; 1996;p. 1–62
  64. Nyberg DA , Souter VL . Chromosomal abnormalities . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 861–906
  65. Al-Kouatly HB , Chasen ST , Streltzoff J , Chervenak FA . The clinical significance of fetal echogenic bowel . Am J Obstet Gynecol . 2001;185:1035–1038
  66. Bromley B , Doubilet P , Frigoletto FD , Krauss C , Estroff JA , Benacerraf BR . Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis? . Obstet Gynecol . 1994;83:647–651
  67. Nyberg DA , Souter VL , El-Bastawissi A , Young S , Luthhardt F , Luthy DA . Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy . J Ultrasound Med . 2001;20:1053–1063
  68. Smith-Bindman R , Hosmer W , Feldstein VA , Deeks JJ , Goldberg JD . Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis . JAMA . 2001;285:1044–1055
  69. Heifetz SA . Single umbilical artery: a statistical analysis of 237 autopsy cases and review of the literature . Perspect Pediatr Pathol . 1984;8:345–379
  70. Leung AK , Robson WL . Single umbilical artery: a report of 159 cases . Am J Dis Child . 1989;143:108–111
  71. Lilja M . Infants with single umbilical artery studied in a national registry: general epidemiological characteristics . Paediatr Perinat Epidemiol . 1991;5:27–36
  72. Jones TB , Sorokin Y , Bhatia R , Zador IE , Bottoms SF . Single umbilical artery: accurate diagnosis? . Am J Obstet Gynecol . 1993;169:538–540
  73. Gornall AS , Kurinczuk JJ , Konje JC . Antenatal detection of a single umbilical artery: does it matter? . Prenat Diagn . 2003;23:117–123
  74. Granese R , Coco C , Jeanty P . The value of single umbilical artery in the prediction of fetal aneuploidy: findings in 12,672 pregnant women . Ultrasound Q . 2007;23:117–121
  75. Lenoski EF , Medovy H . Single umbilical artery: incidence, clinical significance and relation to autosomal trisomy . Can Med Assoc J . 1962;87:1229–1231
  76. Monie IW . Genesis of single umbilical artery . Am J Obstet Gynecol . 1970;108:400–405
  77. Bryan EM , Kohler HG . The missing umbilical artery, I: prospective study based on a maternity unit . Arch Dis Child . 1974;49:844–852
  78. Byrne J , Blanc WA . Malformations and chromosome anomalies in spontaneously aborted fetuses with single umbilical artery . Am J Obstet Gynecol . 1985;151:340–342
  79. Chow JS , Benson CB , Doubilet PM . Frequency and nature of structural anomalies in fetuses with single umbilical arteries . J Ultrasound Med . 1998;17:765–768
  80. Geipel A , Germer U , Welp T , Schwinger E , Gembruch U . Prenatal diagnosis of single umbilical artery: determination of the absent side, associated anomalies, Doppler findings and perinatal outcome . Ultrasound Obstet Gynecol . 2000;15:114–117
  81. Prucka S , Clemens M , Craven C , McPherson E . Single umbilical artery: what does it mean for the fetus? A case-control analysis of pathologically ascertained cases . Genet Med . 2004;6:54–57
  82. Martínez-Frías ML , Bermejo E , Rodríguez-Pinilla E , Prieto D , ECEMC Working Group  . Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants . Am J Med Genet A . 2008;146A:15–25
  83. Rembouskos G , Cicero S , Longo D , Sacchini C , Nicolaides KH . Single umbilical artery at 11–14 weeks' gestation: relation to chromosomal defects . Ultrasound Obstet Gynecol . 2003;22:567–570
  84. Lubusky M, Dhaifalah I, Prochazka M, Hyjanek J, Mickova I, Vomackova K, et al. Single umbilical artery and its siding in the second trimester of pregnancy: relation to chromosomal defects . Prenat Diagn . 2007;27:327–331
  85. Snijders RJM , Shawa L , Nicolaides KH . Fetal choroid plexus cysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age . Prenat Diagn . 1994;14:1119–1127
  86. DeRoo TR , Harris RD , Sargent SK , Denholm TA , Crow HC . Fetal choroid plexus cysts: prevalence, clinical significance, and sonographic appearance . AJR Am J Roentgenol . 1988;151:1179–1181
  87. Chan L , Hixson JL , Laifer SA , Marchese SG , Martin JG , Hill LM . A sonographic and karyotypic study of second-trimester fetal choroid plexus cysts . Obstet Gynecol . 1989;73:703–706
  88. Ostlere SJ , Irving HC , Lilford RJ . A prospective study of the incidence and significance of fetal choroid plexus cysts . Prenat Diagn . 1989;9:205–211
  89. Chinn DH , Miller EI , Worthy LM , Towers CV . Sonographically detected fetal choroid plexus cysts: frequency and association with aneuploidy . J Ultrasound Med . 1991;10:255–258
  90. Sullivan A , Giudice T , Vavelidis F , Thiagarajah S . Choroid plexus cysts: is biochemical testing a valuable adjunct to targeted ultrasonography? . Am J Obstet Gynecol . 1999;181:260–265
  91. Yoder PR , Sabbagha RE , Gross SJ , Zelop CM . The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21 . Obstet Gynecol . 1999;93:869–872
  92. Chen ATL , Chan YK , Falek A . The effects of chromosomal abnormalities on birth weight in man, II: autosomal defects . Hum Hered . 1972;22:209–224
  93. Ounsted M , Moar V , Scott WA . Perinatal morbidity and mortality in small-for-dates babies: the relative importance of some maternal factors . Early Hum Dev . 1981;5:367–375
  94. Khoury MJ , Erickson JD , Cordero JF , McCarthy BJ . Congenital malformations and intrauterine growth retardation: a population study . Pediatrics . 1988;82:83–90
  95. Snijders RJM , Sherrod C , Gosden CM , Nicolaides KH . Fetal growth retardation: associated malformations and chromosomal abnormalities . Am J Obstet Gynecol . 1993;168:547–555
  96. Dicke JM , Crane JP . Sonographic recognition of major malformations and aberrant fetal growth in trisomic fetuses . J Ultrasound Med . 1991;10:433–438
  97. Jauniaux E , Brown R , Snijders RJM , Noble P , Nicolaides KH . Early prenatal diagnosis of triploidy . Am J Obstet Gynecol . 1997;176:550–554
  98. Bahado-Singh RO, Lynch L, Deren O, Morroti R, Copel JA, Mahoney MJ, et al. First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age . Am J Obstet Gynecol . 1997;176:976–980

PII: S1028-4559(09)60292-8

doi:10.1016/S1028-4559(09)60292-8

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 3 , Pages 210-217, September 2009