Volume 48, Issue 4, Pages 342-349 (December 2009)

3 of 30

ABSTRACT

ABSTRACT + REFS

FULL-TEXT PDF (165 KB)

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

Accepted 12 August 2009.

Summary

Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polydactyly.

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

No full text is available. To read the body of this article, please view the PDF online.

Article Outline

• Summary

• References

• Copyright

References

1. 1 Chen CP . Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I) . Taiwan J Obstet Gynecol . 2009;48:210–217 . Abstract | Full-Text PDF (173 KB) | CrossRef

2. 2 Azar GB , Snijders RJ , Gosden C , Nicolaides KH . Fetal nuchal cystic hygromata: associated malformations and chromosomal defects . Fetal Diagn Ther . 1991;6:46–57 . MEDLINE | CrossRef

3. 3 Snijders RJ , Farrias M , von Kaisenberg C , Nicolaides KH . Fetal abnormalities . In: Snijders RJ , Nicolaides KH editor. Ultrasound Markers for Fetal Chromosomal Defects . New York: Parthenon Publishing Group; 1996;p. 1–62 .

4. 4 Nicolaides KH , Azar GB , Snijders RJ , Gosden CM . Fetal nuchal oedema: associated malformations and chromosomal defects . Fetal Diagn Ther . 1992;7:123–131 . MEDLINE | CrossRef

5. 5 Nicolaides KH , Snijders RJ , Gosden CM , Berry C , Campbell S . Ultrasonographically detectable markers of fetal chromosomal abnormalities . Lancet . 1992;340:704–707 . Abstract | CrossRef

6. 6 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 . MEDLINE | CrossRef

7. 7 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 . MEDLINE

8. 8 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 . MEDLINE | CrossRef

9. 9 Tongsong T , Sirichotiyakul S , Wanapirak C , Chanprapaph P . Sonographic features of trisomy 13 at midpregnancy . Int J Gynaecol Obstet . 2002;76:143–148 . Abstract | Full Text | Full-Text PDF (795 KB) | CrossRef

10. 10 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 . MEDLINE

11. 11 Ville Y , Borghi E , Pons JC , Lelorc'h M . Fetal karyotype from cystic hygroma fluid . Prenat Diagn . 1992;12:139–143 . MEDLINE | CrossRef

12. 12 Johnson MP , Johnson A , Holzgreve W , et al. First-trimester simple hygroma: cause and outcome . Am J Obstet Gynecol . 1993;168:156–161 . MEDLINE

13. 13 Trauffer PM , Anderson CE , Johnson A , Heeger S , Morgan P , Wapner RJ . The natural history of euploid pregnancies with first-trimester cystic hygromas . Am J Obstet Gynecol . 1994;170:1279–1284 . Abstract | Full Text

14. 14 Malone FD , Canick JA , Ball RH , et al. First-trimester or second-trimester screening, or both, for Down's syndrome . N Engl J Med . 2005;353:2001–2011 . CrossRef

15. 15 Kharrat R, Yamamoto M, Roume J, Couderc S, Vialard F, Hillion Y, et al. Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness . Prenat Diagn . 2006;26:369–372 . MEDLINE | CrossRef

16. 16 Graesslin O, Derniaux E, Alanio E, Gaillard D, Vitry F, Quéreux C, et al. Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester . Acta Obstet Gynecol Scand . 2007;86:1442–1446 . CrossRef

17. 17 Molina FS , Avgidou K , Kagan KO , Poggi S , Nicolaides KH . Cystic hygromas, nuchal edema, and nuchal translucency at 11–14 weeks of gestation . Obstet Gynecol . 2006;107:678–683 . MEDLINE

18. 18 Nora JJ , Nora AH . The evolution of specific genetic and environmental counseling in congenital heart diseases . Circulation . 1978;57:205–213 . MEDLINE

19. 19 Jones KL . Trisomy 13 syndrome . In: Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 18–21 .

20. 20 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 . Abstract | Full Text | Full-Text PDF (131 KB) | CrossRef

21. 21 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 .

22. 22 Campbell M . Causes of malformations of the heart . Br Med J . 1965;2:895–904 . MEDLINE

23. 23 Hook EB . Contribution of chromosome abnormalities to human morbidity and mortality . Cytogenet Cell Genet . 1982;33:101–106 . MEDLINE

24. 24 Burn J , Goodship J . Congenital heart disease . In: Rimoin DL , Connor JM , Pyeritz RE , Korf BR editor. Emery and Rimoin's Principles and Practice of Medical Genetics . 5th edition. Philadelphia: Elsevier Churchill Livingstone; 2007;p. 1083–1159 .

25. 25 Wladimiroff JW , Stewart PA , Sachs ES , Niermeijer MF . Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies . Am J Med Genet . 1985;21:285–290 . MEDLINE | CrossRef

26. 26 Copel JA , Cullen M , Green JJ , Mahoney MJ , Hobbins JC , Kleinman CS . The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping . Am J Obstet Gynecol . 1988;158:409–413 . MEDLINE

27. 27 Paladini D , Calabrò R , Palmieri S , D'Andrea T . Prenatal diagnosis of congenital heart disease and fetal karyotyping . Obstet Gynecol . 1993;81:679–682 . MEDLINE

28. 28 Brown DL , Emerson DS , Shulman LP , Doubilet PM , Felker RE , Van Praagh S . Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies . J Ultrasound Med . 1993;12:153–161 . MEDLINE

29. 29 Chaoui R , Körner H , Bommer C , Göldner B , Bierlich A , Bollmann R . Prenatal diagnosis of heart defects and associated chromosomal aberrations . Ultraschall Med . 1999;20:177–184 [In German] . MEDLINE | CrossRef

30. 30 Delisle MF , Sandor GG , Tessier F , Farquharson DF . Outcome of fetuses diagnosed with atrioventricular septal defect . Obstet Gynecol . 1999;94:763–767 . MEDLINE | CrossRef

31. 31 Huggon IC , Cook AC , Smeeton NC , Magee AG , Sharland GK . Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome . J Am Coll Cardiol . 2000;36:593–601 . Abstract | Full Text | Full-Text PDF (290 KB) | CrossRef

32. 32 Song MS , Hu A , Dyhamenahali U , et al. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses . Ultrasound Obstet Gynecol . 2009;33:552–559 . CrossRef

33. 33 Jauniaux E , Van Maldergem L , De Munter C , Moscoso G , Gillerot Y . Nonimmune hydrops fetalis associated with genetic abnormalities . Obstet Gynecol . 1990;75:568–572 . MEDLINE

34. 34 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 . MEDLINE | CrossRef

35. 35 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 . MEDLINE | CrossRef

36. 36 Paidas MJ , Crombleholme TM , Robertson FM . Prenatal diagnosis and management of the fetus with an abdominal wall defect . Semin Perinatol . 1994;18:196–214 . MEDLINE

37. 37 Snijders RJ , Brizot ML , Faria M , Nicolaides KH . Fetal exomphalos at 11 to 14 weeks of gestation . J Ultrasound Med . 1995;14:569–574 . MEDLINE

38. 38 Snijders RJ , 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 . MEDLINE

39. 39 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 . Abstract | Full-Text PDF (398 KB) | CrossRef

40. 40 Blazer S , Zimmer EZ , Gover A , Bronshtein M . Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes . Radiology . 2004;232:191–195 . MEDLINE | CrossRef

41. 41 Chen CP . Chromosomal abnormalities associated with omphalocele . Taiwan J Obstet Gynecol . 2007;46:1–8 . Abstract | Full-Text PDF (91 KB) | CrossRef

42. 42 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 . Abstract | Full Text | Full-Text PDF (168 KB) | CrossRef

43. 43 Skari H , Bjornland K , Haugen G , Egeland T , Emblem R . Congenital diaphragmatic hernia: a meta-analysis of mortality factors . J Pediatr Surg . 2000;35:1187–1197 . Abstract | Full Text | Full-Text PDF (127 KB) | CrossRef

44. 44 Bollmann R , Kalache K , Mau H , Chaoui R , Tennstedt C . Associated malformations and chromosomal defects in congenital diaphragmatic hernia . Fetal Diagn Ther . 1995;10:52–59 . MEDLINE | CrossRef

45. 45 Tonks A , Wyldes M , Somerset DA , et al. Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000 . Prenat Diagn . 2004;24:596–604 . MEDLINE | CrossRef

46. 46 Pober BR . Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH . Am J Med Genet C Semin Med Genet . 2007;145C:158–171 . CrossRef

47. 47 Pober BR . Genetic aspects of human congenital diaphragmatic hernia . Clin Genet . 2008;74:1–15 . CrossRef

48. 48 Tibboel D , Gaag AV . Etiologic and genetic factors in congenital diaphragmatic hernia . Clin Perinatol . 1996;23:689–699 . MEDLINE

49. 49 Slavotinek AM . The genetics of congenital diaphragmatic hernia . Semin Perinatol . 2005;29:77–85 . Abstract | Full Text | Full-Text PDF (175 KB) | CrossRef

50. 50 Holder AM , Klaassens M , Tibboel D , de Klein A , Lee B , Scott DA . Genetic factors in congenital diaphragmatic hernia . Am J Hum Genet . 2007;80:825–845 . MEDLINE | CrossRef

51. 51 Enns GM , Cox VA , Goldstein RB , Gibbs DL , Harrison MR , Golabi M . Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review . Am J Med Genet . 1998;79:215–225 . MEDLINE | CrossRef

52. 52 Chen CP , Chern SR , Cheng SJ , et al. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature . Prenat Diagn . 2004;24:455–462 . MEDLINE | CrossRef

53. 53 Lurie IW . Where to look for the genes related to diaphragmatic hernia? . Genet Couns . 2003;14:75–93 . MEDLINE

54. 54 Thorpe-Beeston JG , Gosden CM , Nicolaides KH . Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects . Fetal Ther . 1989;4:21–28 . MEDLINE

55. 55 Howe DT , Kilby MD , Sirry H , et al. Structural chromosome anomalies in congenital diaphragmatic hernia . Prenat Diagn . 1996;16:1003–1009 . MEDLINE | CrossRef

56. 56 Dillon E , Renwick M , Wright C . Congenital diaphragmatic herniation: antenatal detection and outcome . Br J Radiol . 2000;73:360–365 . MEDLINE

57. 57 Stoll C , Alembik Y , Dott B , Roth MP . Associated malformations in cases with congenital diaphragmatic hernia . Genet Couns . 2008;19:331–339 .

58. 58 Nicolaides KH , Cheng HH , Abbas A , Snijders RJ , Gosden C . Fetal renal defects: associated malformations and chromosomal defects . Fetal Diagn Ther . 1992;7:1–11 . MEDLINE | CrossRef

59. 59 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 .

60. 60 Castilla EE , Lugarinho R , da Graça Dutra M , Salgado LJ . Associated anomalies in individuals with polydactyly . Am J Med Genet . 1998;80:459–465 . MEDLINE | CrossRef

61. 61 Chen CP . Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II) . Taiwan J Obstet Gynecol . 2009;48:218–224 . Abstract | Full-Text PDF (160 KB) | CrossRef

a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan

b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

c Department of Biotechnology, Asia University, Taipei, Taiwan

d School of Chinese Medicine, College of Chinese Medicine China Medical University, Taichung, Taipei, Taiwan

e Institute of Clinical and Community Health Nursing, Taipei, Taiwan

f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan

Correspondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

PII: S1028-4559(09)60322-3

doi:10.1016/S1028-4559(09)60322-3

3 of 30