The Embryo pp 101-121 | Cite as

The Role of Echography in the Diagnosis of Fetal Chromosomal Defects

  • K. H. Nicolaides
  • R. J. M. Snijders
  • C. M. Gosden

Abstract

Ultrasonography plays a central role in the diagnosis of fetal chromosomal abnormalities. It is used first, for accurate dating of pregnancy which is essential in the interpretation of maternal serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated oestriol; second, to enhance the safety and effectiveness of amniocentesis, placental biopsy or cordocentesis; and third, for examination of the external and internal anatomy of the fetus and the detection of major malformations, as well as more subtle ones which may be markers of chromosomal defects.

Keywords

Perforation Hydrocephalus Peritonitis Ileal Hydronephrosis 

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References

  1. Allan LD (1984). The prenatal detection of congenital heart disease. In: Rodeck CH, Nicolaides KH (eds) Prenatal diagnosis. Proceedings of the Eleventh Study Group of the Royal College of Obstetricians and Gynaecoogists. RCOG and John Wiley and Sons, Chichester, p 285Google Scholar
  2. Anderson HN, Drew JH, Beischer NA, et al. (1983) Non-immune hydrops fetalis: changing contribution to perinatal mortality. Br J Obstet Gynaecol 90: 636.CrossRefGoogle Scholar
  3. Beischer NA, Fortune DW, Macafee J (1971). Non-immunologic hydrops fetalis and congenital abnormalities. Obstet Gynecol 38: 86PubMedGoogle Scholar
  4. Benacerraf BR and Adzik NS 1987 Fetal diaphragmatic hernia: Ultrasound diagnosis and clinical outcome in 19 cases. Am J Obstet Gynecol 156: 573PubMedGoogle Scholar
  5. Benacerraf BR, Barss VA, Laboda LA (1985a). A sonographic sign for the detection in the second trimester of the fetus with Down’s syndrome. Am J Obstet Gynecol 151: 1078PubMedGoogle Scholar
  6. Benacerraf BR, Frigoletto FD, Laboda LA (1985b). Sonographic diagnosis of Down’s syndrome in the second trimester. Am J Obstet Gynecol 153: 49PubMedGoogle Scholar
  7. Campbell S (1977). Early prenatal diagnosis of neural tube defects by ultrasound. Clin Obstet Gynecol 20: 351PubMedCrossRefGoogle Scholar
  8. Cantrell JR, Haller JA, Ravitch MM (1958) A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet 107: 602PubMedGoogle Scholar
  9. Chevenak FA, Isaacson G, Blakemore KJ et al. (1983) Fetal cystic hygroma: cause and natural history. N Engl J Med 14: 822CrossRefGoogle Scholar
  10. Chervenak FA, Duncan C, Ment LR et al. (1984) Outcome of fetal ventriculomegaly. Lancet ii: 179Google Scholar
  11. Chitkara U, Cogswell C, Norton K, Wilkins IA, Mewfhalek K, Berkowitz RL (1989) Choroid plexus cysts in the fetus: A benign anatomic variant or pathologic entity? Report of 41 cases and review of the literature. Obstet Gynecol 72: 185Google Scholar
  12. Chudleigh P, Pearce JM, Campbell S (1984) The prenatal diagnosis of transient cysts of the fetal choroid plexus. Prenatal Diagn 4: 135CrossRefGoogle Scholar
  13. DeLoreimier AA, Fonkalsrud EW, Hays DM (1969) Congenital atresia and stenosis of the duodenum and ileum. Surgery 65: 819Google Scholar
  14. Fermont L, de Geeter B, Aubry MC et al. (1985) A close collaboration between obstetricians and paediatric cardiologists allows antenatal detection of severe cardiac malformations by 2D echocardiography. In: 2nd world congress of paediatric cardiology. Springer-Verlag, New York, pl0Google Scholar
  15. Furness ME (1987) Choroid plexus cysts and trisomy 18. Lancet 2: 693PubMedCrossRefGoogle Scholar
  16. Gabrielli et al 1989 S, Reece AR, Pilu G, Perolo A, Rizzo N, Bovicelli L & Hobbins JC (1989) The significance of prenatally diagnosed choroid plexus cysts. Am J Obstet Gynecol 160: 1207PubMedGoogle Scholar
  17. Giacoia GP (1980) Hydrops fetalis (fetal oedema). A survey. Clin Pediatr 19: 334CrossRefGoogle Scholar
  18. Grannum P, Bracken M, Silverman R, Hobbins JC (1980) Assessment of fetal kidney size in normal gestation by comparison of ratio of kidney circumference to abdominal circumference. Am J Obstet Gynecol 136: 249PubMedGoogle Scholar
  19. Holder TM, Ashcraft KW (1981) Developments in the care of patients with esophageal atresia and tracheoesophageal fistula. Surg Clin North Am 61: 1051PubMedGoogle Scholar
  20. Hutchinson AA, Drew JH, Yu VYH et al. (1982) Non-immunologic hydrops fetalis: a review of cases. Obstet Gynecol 59: 347Google Scholar
  21. Keeling JW, Gough DJ, Iliff PJ (1983) The pathology of non-rhesus hydrops. Diagn Histopathol 6: 89PubMedGoogle Scholar
  22. Khouzam MN, Hooker JG (1989) The significance of prenatal diagnosis of choroid plexus cysts. Prenat Diagn 9: 213PubMedCrossRefGoogle Scholar
  23. Machin GA (1981) Differential diagnosis of hydrops fetalis. Am J Med Genet 9: 341PubMedCrossRefGoogle Scholar
  24. Manning FA (1984) Ultrasound in prenatal diagnosis. In: Creasy RK, Resnik R (eds) Maternal fetal medicine: principles and practice. WB Saunders, Philadelphia, p 203Google Scholar
  25. McHugo JM, Shafi MI, Rowlands D, Wever JB (1988) Prenatal diagnosis of adult polycystic kidney disease. Br J Radiol 61: 1072PubMedCrossRefGoogle Scholar
  26. Nicolaides KH, Rodeck CH, Lange I et al. (1985) Fetoscopy in the evaluation of unexplained fetal hydrops. Br J Obstet Gynaecol 92: 671PubMedCrossRefGoogle Scholar
  27. Nicolaides KH, Rodeck CH, Gosden CM (1986) Karyotyping in non-lethal fetal malformations. Lancet i: 284Google Scholar
  28. Nora JJ, Nora AH (1978) The evolution of specific genetic and environmental counselling in congenital heart disease. Circulation 57: 205PubMedGoogle Scholar
  29. Nyberg DA, Fitzsimmons J, Mack LA et al (1989) Chromosomal abnormalities in fetuses with omphalocele. Significance of omplhalocele contents. J Ultrasound Med 8: 299Google Scholar
  30. Ostlere SJ, Irving HC, Lilford RJ (1989) A prospective study of the incidence and significance of fetal choroid plexus cysts. Pren Diagn 9: 205CrossRefGoogle Scholar
  31. Pashayan HM (1983) What else to look for in a child born with a cleft of the lip or palate. Cleft Palate J 20: 543Google Scholar
  32. Piu G, Rizzo N, Orsini LF et al. (1986) Antenatal detection of fetal cerebral anomalies. Ultrasound Med Biol 12: 319CrossRefGoogle Scholar
  33. Pearce JM, Griffin D, Campbell S (1984) Cystic hygromata in trisomy 18 and 21. Prenatal Diagn 4: 371CrossRefGoogle Scholar
  34. Potter EL (1943) Universal oedema of the fetus unassociated with erythroblastosis. Am J Obstet Gynecol 46:. 130Google Scholar
  35. Ricketts NEM, Lowe EM, Patel NB (1987). Prenatal diagnosis of choroid plexus cysts. Lancet 1: 213PubMedCrossRefGoogle Scholar
  36. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC (1988) Prenatal diagnosis of congenital anomalies. Appleton, Lange, California, p 311Google Scholar
  37. Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310: 1341PubMedCrossRefGoogle Scholar
  38. Scheinemachers DM, Cross PK, Hook EB (1982) Rates of trisomies 21,18,13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in livebirths. Hum Genet 61: 318Google Scholar
  39. Smith DW (1982) Recognizable patterns of human malformation, 3rd edn. WB Saunders, PhiladelphiaGoogle Scholar
  40. Thorpe-Beeston JG, Gosden CM, Nicolaides KN (1990) Prenatal diagnosis and chromosomal defects. (In press)Google Scholar
  41. Turkel SB (1982) Conditions associated with non-immune hydrops fetalis. Clin Perinatol 9: 613PubMedGoogle Scholar
  42. Yudkin PL, Aboualfa M, Eyre JA, Redman CWG, Wilkinson AR (1987) New birth weight and head circumference centiles for gestational ages 24–42 weeks. Early Hum Dev 15: 45PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London Limited 1991

Authors and Affiliations

  • K. H. Nicolaides
  • R. J. M. Snijders
  • C. M. Gosden

There are no affiliations available

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