Correlation of prenatal stenographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21

Journal of Ultrasound in Medicine

Volumn 26, Issue 1, 2007, Pages 61-68

  Szigeti, Zsanett ^a   Csaba, Ákos ^a   Pete, Barbara ^a   Hajdú, Júlia ^a   Papp, Zoltán ^a   Papp, Csaba ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

Fetal autopsy; Second trimester; Sonography; Trisomy 21

Indexed keywords

BIOLOGICAL ORGANS; DIAGNOSIS; NEUROLOGY; PATHOLOGY; PEDIATRICS;

FETAL AUTOPSY; SECOND TRIMESTER; SONOGRAPHY; TRISOMY 21;

FETAL MONITORING;

ABDOMINAL DISEASE; ADOLESCENT; ADULT; ARTICLE; AUTOPSY; CENTRAL NERVOUS SYSTEM; COMPARATIVE STUDY; CONGENITAL HEART MALFORMATION; CORRELATION ANALYSIS; CYSTIC LYMPHANGIOMA; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS MALFORMATION; HEART; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; PATHOLOGY; PRENATAL DIAGNOSIS; PRENATAL SCREENING; TRISOMY 21; ABORTION; CONGENITAL MALFORMATION; DOWN SYNDROME; ECHOGRAPHY; FEMALE; PREGNANCY; SECOND TRIMESTER PREGNANCY;

ABNORMALITIES; ABORTION, EUGENIC; ADOLESCENT; ADULT; AUTOPSY; DOWN SYNDROME; FEMALE; FETUS; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; ULTRASONOGRAPHY, PRENATAL;

EID: 33846183595     PISSN: 02784297     EISSN: None     Source Type: Journal    
DOI: 10.7863/jum.2007.26.1.61     Document Type: Article

References (46)

1. Ferguson-Smith MA, Yates JR. Maternal age specific rates for chromosome aberrations, factors influencing them: report of collaborative study on 52,965 amniocenteses. Prenat Diagn 1984; 4:5-44.
2. Snijders RJ, Sebire NJ, Nicolaides KH. Maternal age and gestational age-specific rates for chromosomal defects. Fetal Diagn Ther 1995; 10:349-355.
3. Hook EB. Chromosome abnormalities: prevalence, risk and recurrences. In: Brock DJ, Rodeck CH, Ferguson-Smith MA (eds). Prenatal Diagnosis and Screening. Edinburgh, Scotland: Churchill Livingstone; 1998:351-392.
4. Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol 2003; 21:313-321.
5. Yeo L, Guzman ER, Sheri-Schwartz S, Walters C, Vintzileos AM. Value of a complete sonographic survey in detecting fetal abnormalities: correlation with perinatal autopsy. J Ultrasound Med 2002; 21:501-510.
6. Husain AN, O'Conor GT. The perinatal autopsy: a neglected source of discovery. IARC Sci Publ 1991; 112:151-162.
7. Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH, Van Der Hagen CB, Ormerod E. A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype. Ultrasound Obstet Gynecol 2000; 16:37-45.
8. Keeling JW, Hansen BF, Kjaer I. Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 1997; 68:466-471.
9. Mittelman F (ed). ISCN 1995: An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S Karger AG; 1995.
10. Keeling JW. The perinatal autopsy. In: Keeling JW (ed). Fetal and Neonatal Pathology London, England: Springer-Verlag; 1993:465-469.
11. Sohl BD, Scioscia AL, Budorick NE, Moore TR. Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center. Am J Obstet Gynecol 1999; 181:898-904.
12. Deren O, Mahoney MJ, Copel JA, Bahado-Singh RO. Subtle ultrasonographic anomalies: do they improve the Down syndrome detection rate? Am J Obstet Gynecol 1998; 178:441-445.
13. Smith-Bindman R, Hosmer BS, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 2001; 285:1044-1055.
14. Filly R. Obstetrical sonography: the best way to terrify a pregnant woman. J Ultrasound Med 2000; 19:1-5.
15. Piercecchi-Marti MD, Liprandi A, Sigaudy S, et al. Value of fetal autopsy after medical termination of pregnancy. Forensic Sci Int 2004; 144:7-10.
16. Sun CJ, Grumbach K, DeCosta DT, Meyers CM, Dungan JS. Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal anomalies. Pediatr Dev Pathol 1999; 2:131-142.
17. Chescheir NC, Reitnauer PJ. A comparative study of prenatal diagnosis and perinatal autopsy. J Ultrasound Med 1994; 13:451-456.
18. Magee JF, McNally GR, Thorton C. Correlation of prenatal ultrasound diagnosis with autopsy findings [abstract]. Mod Pathol 1995; 8(suppl):5p.
19. Johns N, Al-Salti W, Cox P, Kilby MD. A comparative study of prenatal ultrasound findings and post-mortem examination in a tertiary referral centre. Prenat Diagn 2004; 24:339-346.
20. Sankar VH, Phadke SR. Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings. J Perinatol 2006; 26:224-229.
21. Sonderegger-Iseli K, Burger S, Muntwyler J, Salomon F. Diagnostic errors in three medical eras: a necropsy study. Lancet 2000; 355:2027-2031.
22. Viora E, Errante G, Sciarrone A, et al. Fetal nasal bone and trisomy 21 in the second trimester. Prenat Diagn 2005; 25:511-515.
23. Sonek JD. Nasal bone evaluation with ultrasonography: a marker for fetal aneuploidy. Ultrasound Obstet Gynecol 2003; 21:152-155.
24. Guven MA, Ceylaner S, Prefumo F, Uzel M. Prenatal sonographic findings in a case of Varadi-Papp syndrome. Prenat Diagn 2004; 24:989-991.
25. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77:431-438.
26. Opitz JM, Gilbert-Barness EF. Reflections on the pathogenesis of Down syndrome. Am J Med Genet Suppl 1990; 7:38-51.
27. Jones KL. Smith's Recognizable Patterns of Human Malformations. 4th ed. Philadelphia, PA: WB Saunders Co; 1988:16-25.
28. 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.
29. Carroll SG, Porter H, Abdel-Fattah S, Kyle PM, Soothill PW. Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal brain abnormalities. Ultrasound Obstet Gynecol 2000; 16:149-153.
30. Isaksen CV, Eik-Nes SH, Blaas HG, Tegnander E, Torp SH. Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects. Ultrasound Obstet Gynecol 1999; 13:117-126.
31. Kidd L, Driscoll DJ, Gersony WM, et al. Second natural history study of congenital heart defects: results of treatment of patients with ventricular septal defects. Circulation 1993; 87(suppl):138-151.
32. Descamps P, Jourdain O, Paillet C, et al. Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review. Eur J Obstet Gynecol Reprod Biol 1997; 71:3-10.
33. Johnson MP, Johnson A, Holzgrewe W, et al. First trimester simple hygroma: cause and outcome. Am J Obstet Gynecol 1993; 168:156-161.
34. Brumfield CG, Wenstrom KD, Davis RO, Owen J, Cosper P. Second-trimester cystic hygroma: prognosis of septated and nonseptated lesions. Obstet Gynecol 1996; 88:979-982.
35. Nyberg DA, Souter VL. Sonographic markers of fetal trisomies. J Ultrasound Med 2001; 20:655-674.
36. Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester? J Ultrasound Med 1998; 17:327-332.
37. Hill LM. The sonographic detection of trisomies 13, 18 and 21. Clin Obstet Gynecol 1996; 39:831-845.
38. Shipp TD, Benacerraf BR. Second trimester screening for chromosomal abnormalities. Prenat Diagn 2002; 22:296-307.
39. Lockwood C, Benacerraf B, Krinsky A, et al. A sonographic screening method for Down syndrome. Am J Obstet Gynecol 1987; 157:803-808.
40. Nyberg DA, Resta RG, Luthy DA, Hickok DE, Williams MA. Humerus and femur length shortening in the detection of Down's syndrome. Am J Obstet Gynecol 1993; 168:534-538.
41. Thompson MO, Thialganathan B. Effect of routine screening for Down's syndrome on the significance of isolated fetal hydronephrosis. Br J Obstet Gynecol 1998; 105:860-864.
42. Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH. Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with central nervous system anomalies. Ultrasound Obstet Gynecol 1998; 11:246-253.
43. Simpson J. The cardiac echogenic focus. Prenat Diagn 1999; 19:972-975.
44. Bromley B, Lieberman E, Shipp TD, Benacerraf B. Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome. Obstet Gynecol 1995; 86:998-1001.
45. Winn VD, Sonson J, Filly RA. Echogenic intracardiac focus. J Ultrasound Med 2003; 22:1207-1214.
46. Khong TY, Mansor FA, Staples AJ. Are perinatal autopsy rates satisfactory? Med J Aust 1995; 162:469-470.