Advertisement

Congenital Abnormalities: Prenatal Diagnosis and Screening

  • Patricia A. Boyd
  • Jean W. Keeling

Congenital malformations are an important cause of prenatal, perinatal, and infant mortality and morbidity. Three percent of newborns have a single major malformation and 0.7% have multiple major defects. The frequency is much higher prenatally, the majority aborting spontaneously. During the past 50 years, infants with major anomalies have become the focus of increasing and diverse professional expertise and consume a large slice of health budgets in developed countries where their importance as a cause of perinatal mortality has grown as deaths from intrapartum problems have declined and better neonatal care has improved the survival of normally formed low birth weight babies (see Chapter 11). Clinical interest in malformations has been enhanced because sophisticated surgical and anesthetic management makes correction of some major defects possible. This and the recognition of syndromes, their mode of inheritance, and sometimes their etiology requires detailed information from the pathologist in respect to those babies who die, or where termination of pregnancy has been carried out.

There has been rapid expansion of both prenatal diagnostic and screening tests, and in the many different types of disorder that can be detected prenatally. This, and increasing interest in the pathology of the spontaneously aborted fetus, means that pathologists need to be acquainted with malformations in the fetus at an earlier stage of development than previously encountered. They must also recognize the following: that the natural history of congenital malformations is not always known; that malformations are now being defi ned earlier in gestation; that documentation of abnormalities at different stages is vital; that some disorders may have distinct, gestation-related manifestations; that a major malformation may have different etiologies and thus different recurrence risks; and that coexisting minor dysmor-phism may indicate a syndrome diagnosis or a specifi c etiology. Recognition of the difference between a collection of associated defects that may constitute a syndrome and a chain of events consequent on a single malformation resulting in a sequence of malformations or progressive deformity is important. Detailed observation of normal embryonic and fetal development and of structural abnormalities in the fetus has increased our awareness of the pathogenesis and natural history of many malformations. Our understanding of their etiology has progressed at a much slower rate.

Keywords

Down Syndrome Prenatal Diagnosis Neural Tube Defect Myotonic Dystrophy Nuchal Translucency 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Abbs S (1996) Prenatal diagnosis of Duchenne and Becker muscular dystrophy. Prenat Diagn 16:1187–1198.PubMedCrossRefGoogle Scholar
  2. Aitken DA, May HM, Ferguson-Smith MA (1984) Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinester-ase gel test. Prenat Diagn 4:443–446.PubMedCrossRefGoogle Scholar
  3. Balfour RO, Laurence KM (1980) Raised serum AFP levels and fetal renal agenesis. Lancet 1:317.PubMedCrossRefGoogle Scholar
  4. Ballantyne JIV (1902) Manual of Antenatal Pathology and Hygiene. Green, Edinburgh, pp. 272–277.Google Scholar
  5. Bamforth JS (1993) Amniotic band sequence: Streeter hypothesis revisited. Birth Defects 29:279–289.PubMedGoogle Scholar
  6. Barson AJ, Donnai P, Ferguson A, Donnai D, Read AP (1980) Haemangioma of the cord: further cause of raised maternal serum and liquor alpha fetoprotein. Br Med J 281:1252.PubMedCrossRefGoogle Scholar
  7. Batcup G, Clarke JP, Purdie DW (1988) Disposal arrangements for fetuses lost in the second trimester. Br J Obstet Gynaecol 95:547–550.PubMedGoogle Scholar
  8. Benirschke K, Lowry RB, Opitz JM, Schwarzacher HG, Spranger JW (1979) Developmental terms-some proposals: fi rst report of an international working group. Am J Med Genet 3:297.PubMedCrossRefGoogle Scholar
  9. Bieber FR, Petres RE, Bieber JMcN, Nance WE (1979) Prenatal detection of a familial nuchal bleb simulating encephalocele. Birth Defects 15:51–61.PubMedGoogle Scholar
  10. Bischoff FZ, Hahn S, Johnson KL, et al (2003) Intact fetal cells in maternal plasma: are they really there? Lancet 361:139–140.PubMedCrossRefGoogle Scholar
  11. Boué J, Chalmers RA, Tracey BM, et al. (1984) Prenatal diagnosis of dysmorphic neonatal-lethal type II glu-taric aciduria. Lancet 1:846–847.PubMedCrossRefGoogle Scholar
  12. Boulot P, Hedon B, Deschamps F, et al. (1990) Anen-cephaly-like malformation in surviving twin after embryonic reduction. Lancet 335:1155–1156.PubMedCrossRefGoogle Scholar
  13. Boyd PA, Anthony MY, Manning N, Lara-Rodriguez C, Wellesley DN, Chamberlain P (1996) Antenatal diag-nosis of cystic hygroma/nuchal pad. Report of 92 cases with follow up of survivors. Arch Dis Child 74: F38–F42.Google Scholar
  14. Boyd PA, Batthacharya A, Gould S, Manning N, Chamberlain P (1998) Outcome of prenatally diagnosed anterior abdominal wall defects. Arch Dis Child 78: F209–F213.Google Scholar
  15. Boyd PA, Keeling JW, Lindenbaum RH (1988) Fraser syndrome (cryptophthalmos—syndactyly syndrome: a review of eleven cases with postmortem fi ndings. Am J Med Genet 31:159–168.PubMedCrossRefGoogle Scholar
  16. Boyd PA, Keeling JW, Selinger M, MacKenzie IZ (1990) Limb reduction and chorion villus sampling. Prenat Diagn 10:437–441.PubMedCrossRefGoogle Scholar
  17. Boyd PA, Tondi F, Hicks NR, Chamberlain PF (2005) Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study. Br Med J 328:137–140.CrossRefGoogle Scholar
  18. Brand IR, Kaminopetros P, Cave M, Irving HC, Lilford RJ (1994) Specifi city of antenatal ultrasound in the Yorkshire Region: a prospective study of 2261 ultrasound detected anomalies. Br J Obstet Gynaecol 101:392–397.PubMedGoogle Scholar
  19. Bricker L, Garcia J, Henderson J, et al. (2000) Ultra-sound screening in pregnancy: a systematic review of the clinical effectiveness, cost-effectiveness and women's views. Health Technol Assess 4:1–193.Google Scholar
  20. Brock DJH, Sutctiffe RC (1972) Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifi da. Lancet 2:197–199.PubMedCrossRefGoogle Scholar
  21. Brombezzi R, Kovanen PE, Martin R (2003) New approaches to investigating heterogeneity in complex traits. J Med Genet 40:553–559.CrossRefGoogle Scholar
  22. Brown N, Lumley J, Tickle C, Keene J (1996) Congenital Limb Reduction Defects—Clues from Developmen-tal Biology, Teratology and Epidemiology. The Stationery Office, London.Google Scholar
  23. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group (1989) Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. Lancet 1:1–6.Google Scholar
  24. Canadian Early and Mid-Trimester Amniocentesis Trial Group (CEMAT) (1998) Randomised trial to assess safety and fetal outcome of early and mid- trimester amniocentesis. Lancet 351:242–247.CrossRefGoogle Scholar
  25. Canadian Medical Research Council (1977) Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy. A Canadian study. Report No 5. Supply Services, Ottawa, Canada.Google Scholar
  26. Carroll SG, Porter H, Abdel-Fattah S, Kyle PM, Soothill PW (2000) Correlation of prenatal ultrasound and pathologic fi ndings in fetal brain abnormalities. Ultrasound Obstet Gynecol 16:149–153.PubMedCrossRefGoogle Scholar
  27. Carter CO (1963) The genetics of common malforma-tion. In: Proceedings, Second International Confer-ence on Congenital Malformations. The Medical Congress, New York, pp. 306–313.Google Scholar
  28. Carter CO (1969) Genetics of common disorders. Br Med Bull 25:52–57.PubMedGoogle Scholar
  29. Chemke J, Miskin A, Rav-acha Z, Porath A, Sagiv M, Katz Z (1977) Prenatal diagnosis of Meckel syn-drome: alpha-fetoprotein and beta-trace protein in amniotic fl uid. Clin Genet 11:285–289.PubMedCrossRefGoogle Scholar
  30. Chescheir NC, Reibauer PJ (1994) A comparative study of prenatal diagnosis and perinatal autopsy. J Ultra-sound Med 13:451–456.Google Scholar
  31. Chitayat D, Kalousek DK, Bamforth JS (1989) Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 33:352–356.PubMedCrossRefGoogle Scholar
  32. Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH (2006) Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening observational study. Br Med J 332:668–669.CrossRefGoogle Scholar
  33. Chitty LS, Pandya PP (1997) Ultrasound screening for fetal abnormalities in the fi rst trimester. Prenat Diagn 17:1269–1281.PubMedCrossRefGoogle Scholar
  34. Chitty L, Yates RW (eds) (2004) The diagnosis and management of fetal cardiac abnormalities. Prenat Diagn (Special Topic Issue) 24:1031–1158.Google Scholar
  35. Clayton-Smith J, Farndon PA, McKeown C, Donnai D (1990) Examination of fetuses after induced abortion for fetal abnormality. Br Med J 300:295–297.CrossRefGoogle Scholar
  36. Cowchock FS, Wapner RJ, Kurtz A, Chatzkel S, Barn-hart JS Jr, Lesnick DC (1982) Brief clinical report: not all cystic hygromas occur in the Ullrich—Turner syn-drome. Am J Med Genet 12:327–331.PubMedCrossRefGoogle Scholar
  37. Crosby JL, Varnum DS, Nadeau JH (1993) Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet 52:866–874.PubMedGoogle Scholar
  38. Deprest J, Gratacos E, Nicloaides KH (2004) Fetoscopic tracheal occlusion (FETU) for severe congenital dia-phragmatic hernia: evolution of a technique and pre-liminary results. Ultrasound Obstet Gynecol 24:121–126.PubMedCrossRefGoogle Scholar
  39. Donnai D, Read AP (2003) How clinicians add to knowl-edge of development Lancet 362:477–485.PubMedCrossRefGoogle Scholar
  40. Donnai D, Winter RM (1989) Disorganisation: a model for “early amnion rupture”? J Med Genet 26:421–425.PubMedCrossRefGoogle Scholar
  41. Elder SH, Laurence KM (1991) The impact of support-ing intervention after second trimester termination of pregnancy for fetal abnormality. Prenat Diagn 11:47–54.PubMedCrossRefGoogle Scholar
  42. Emery AE (1998) The muscular dystrophies [review]. Br Med J 317:991–995.Google Scholar
  43. Engel E (1993) Uniparental disomy revisited: the fi rst twelve years. Am J Med Genet 46:670–674.PubMedCrossRefGoogle Scholar
  44. Eydoux P Choiset A, le Porrier N, et al. (1989) Chromo-somal prenatal diagnosis: study of 936 cases of intra-uterine abnormalities after ultrasound assessment. Prenat Diagn 9:255–268.PubMedCrossRefGoogle Scholar
  45. Ferguson-Smith MA (1983) The reduction of anen-cephalic and spina bifi da births by maternal serum alpha fetoprotein screening. Br Med Bull 39:365–372.PubMedGoogle Scholar
  46. Firth HV (1997) Chorion villus sampling and limb defi -ciency—cause or coincidence? Prenat Diagn 17:1313–1330.PubMedCrossRefGoogle Scholar
  47. Firth HV, Boyd PA, Chamberlain P, Mackenzie IZ, Lindenbaum RH, Huson SM (1991) Severe limb abnormalities after chorion villus sampling at 56–66 days gestation. Lancet 337:762–763.PubMedCrossRefGoogle Scholar
  48. Firth HV, Hurst JA (2005) Desk Reference: Clinical Genetics. Oxford University Press, Oxford.Google Scholar
  49. Fitzsimons JS, Filshie GM, Hill AS, Kime R (1976) Ante-natal diagnosis of trisomy 13 with unexpected increase in alpha-fetoprotein. J Med Genet 13:400–412.CrossRefGoogle Scholar
  50. Gardner RJM, Sutherland GR (2004) Chromosome Abnormalities and Genetic Counselling, 3rd ed. Oxford Monographs on Medical Genetics No. 46. Oxford University Press, Oxford.Google Scholar
  51. Gau CS, Napier K, Bhundia J (1991) Use of a tissue adhesive to repair fetal bodies after dissection. J Clin Pathol 44:759–760.PubMedCrossRefGoogle Scholar
  52. Goncalves LF, Jeanty P, Piper JM (1994) The accuracy of prenatal ultrasonography in detecting congenital anomalies. Am J Obstet Gynecol 171:1606–1612.PubMedGoogle Scholar
  53. Goodman FR (2003) Congenital abnormalities of body patterning: embryology revisited Lancet 362:651–662.PubMedCrossRefGoogle Scholar
  54. Graham J, Smith D (1981) Dominantly inherited pte-rygium colli. J Pediatr 98:664–665.Google Scholar
  55. Graham JM, Edwards MJ, Lipson AH, Webster NS (1988) Gestational hyperthermia as a cause for Moebius' syndrome. Teratology 37:461–462.Google Scholar
  56. Haak MC, van Vugt JM (2003) Pathophysiology of increased nuchal translucency: a review of the litera- ture. Hum Reprod Update 9:175–184.PubMedCrossRefGoogle Scholar
  57. Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857–873.PubMedGoogle Scholar
  58. Hall JG, Pauli RM, Wilson KM (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122–140.PubMedCrossRefGoogle Scholar
  59. Harrod MJE, Friedman JM, Santos-Ramos R, Rutledge J, Weinberg A (1984) Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. Am J Obstet Gynecol 150:38–40.PubMedGoogle Scholar
  60. Higginbottom MC, Jones KL, Hall BD, Smith DW (1979) The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95:544–549.PubMedCrossRefGoogle Scholar
  61. Hobbins JC, Grannum PAT, Berkowitz RL, Silverman R, Mahoney MJ (1979) Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol 134:331–345.PubMedGoogle Scholar
  62. Holmes LB (2002) The teratogenicity of anticonvulsant drugs; a progress report (commentary). J Med Genet 39:245–247.PubMedCrossRefGoogle Scholar
  63. Hook EB (1990) Chromosome abnormalities in older women by maternal age. Am J Med Genet 35:184–187.PubMedCrossRefGoogle Scholar
  64. Hoyme HE, Higginbottom MC, Jones KL (1981) The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr 98:228–231.PubMedCrossRefGoogle Scholar
  65. Hoyme HE, Jones KL, Dixon SD, et al. (1990) Prenatal cocaine exposure and fetal vascular disruption. Pedi-atrics 85:743–747.Google Scholar
  66. Hume RF Jr, Martin LS, Bottoms SF, et al. (1997) Vas-cular disruption birth defects and history of prenatal cocaine exposure: a case control study. Fetal Diagn Ther 12:292–295.PubMedCrossRefGoogle Scholar
  67. Ikegawa S (2006) Genetic analysis of skeletal dysplasias: recent advances and perspectives in the post-genomic-sequence era. J Hum Genet 51:581–586.PubMedCrossRefGoogle Scholar
  68. Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH, van der Hagen CB, Ormerod F (2000) A correlative study of prenatal ultrasound and postmortem in fetuses and infants with an abnormal karyotype. Ultrasound Obstet Gynecol 16:37–45.PubMedCrossRefGoogle Scholar
  69. Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC (1982) Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatiform mole. Ann Hum Genet 46:223–231.PubMedCrossRefGoogle Scholar
  70. Johns N, Al-Salti W, Cox P, Kilby MD (2004) A com-parative study of prenatal ultrasound fi ndings and postmortem examination in a tertiary referral centre. Prenat Diagn 24:339–346.PubMedCrossRefGoogle Scholar
  71. Jones KL (2005) Smith's Recognizable Patterns of Human Malformation, 6th ed. Saunders, Philadel-phia.Google Scholar
  72. Jones KL, Smith DW, Ulleland N, Streissguth AP (1973) Pattern of malformation in offspring of chronic alco-holic mothers. Lancet 1:1267–1271.PubMedCrossRefGoogle Scholar
  73. Kalousek DK, Fitch N, Paradice BA (1990) Pathology of the Human Embryo and Previable Fetus. An Atlas. Springer-Verlag, New York.Google Scholar
  74. Keeling JW, Fischer Hansen B, Kjaer I (1997) Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 68:466–471.PubMedCrossRefGoogle Scholar
  75. Keeling JW, Kjaer I (1994) Diagnostic distinc-tion between anencephaly and amnion rupture sequence based on skeletal analysis. J Med Genet 31:823–829.PubMedCrossRefGoogle Scholar
  76. Keeling JW, Kjaer I (1999) Cervical ribs: useful marker of monosomy X in fetal hydrops. Pediatr Devel Pathol 2:119–123.CrossRefGoogle Scholar
  77. Keeling JW, Manning N, Chamberlain P (1990) Accu-racy of fetal anomaly scanning. Pediatr Pathol 10:653.Google Scholar
  78. Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A (1998) Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal fi ndings in 212 cases. Am J Med Genet 77:317–321.PubMedCrossRefGoogle Scholar
  79. Kjaer I, Keeling JW, Fischer Hansen B (1996) Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet 65:332–336.PubMedCrossRefGoogle Scholar
  80. Kjaer I, Keeling JW, Fischer Hansen B (1997a) Pattern of malformations in the axial skeleton in human trisomy 13 fetuses. Am J Med Genet 70:421–426.CrossRefGoogle Scholar
  81. Kjaer I, Keeling JW, Smith NM, Fischer Hansen B (1997b) Pattern of malformations in the axial skele-ton in human triploid fetuses. Am J Med Genet 72:216–221.CrossRefGoogle Scholar
  82. Kjessler B, Johansson SCO, Shernian M, Gustavson KH, Hultqvist C (1975) Alpha fetoprotein in antenatal diagnosis of congenital nephrosis. Lancet 1:432–433.PubMedCrossRefGoogle Scholar
  83. Kluth D, Lambrecht W (1996) The pathogenesis of omphalocele and gastroschisis. An unsolved problem. Pediatr Surg Int 11:62–66.CrossRefGoogle Scholar
  84. Knowles SAS (1986) Examination of products of con-ception terminated after prenatal investigation. J Clin Pathol 39:1049–1065.PubMedCrossRefGoogle Scholar
  85. Koontz WL, Seeds JW, Adams NJ, Johnson AM, Cefato RC (1983) Elevated maternal serum alpha-fetopro-tein, second-trimester oligohydramnios and preg-nancy outcome. Obstet Gynecol 62:301–304.PubMedGoogle Scholar
  86. Koren G, Pastuszak A, Ito S (1998) Drugs in pregnancy [review]. N Engl J Med 338:1128–1137.PubMedCrossRefGoogle Scholar
  87. Kuliev A, Verlinsky Y (2005) Place of preimplantation diagnosis in genetic practice. Am J Med Genet 134A: 105–110.PubMedCrossRefGoogle Scholar
  88. Kumar S, O'Brian A (2004) Recent developments in fetal medicine. Br Med J 328:1002–1006.CrossRefGoogle Scholar
  89. Lamb MP (1975) Gangrene of a fetal limb due to amnio-centesis. Br J Obstet Gynaecol 82:829–830.PubMedGoogle Scholar
  90. Lammer EJ, Chen DT, Hoar RM, et al. (1985) Retinoic acid embryopathy. N Engl J Med 313:837–841.PubMedGoogle Scholar
  91. Laurence KM (1982) Antenatal detection of neural tube defects. In: Barson AJ (ed) Fetal and Neonatal Pathol-ogy. Praeger, New York, p. 87.Google Scholar
  92. Levy H, Ghavami M (1996) Maternal phenylketonuria: a metabolic teratogen. Teratology 53:176–184.PubMedCrossRefGoogle Scholar
  93. MacIntyre DJ, Chang H-H, Kaufman MH (1995) Tera-togenic effects of amniotic sac puncture: a mouse model. J Anat 186:527–539.PubMedGoogle Scholar
  94. Macken MB, Grantmyre EB, Vincer MJ (1989) An ultra-sonic view of the developing fetus. Obstet GynecolSurv 38:375–398.Google Scholar
  95. Malone FD, Canick JA, Ball RH, et al. (2005) First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 353:2001–2011.PubMedCrossRefGoogle Scholar
  96. Manchester DK, Pretorius DH, Avery C, et al. (1988) Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies. Prenat Diagn 8:109–117.PubMedCrossRefGoogle Scholar
  97. Mann L, Alroomi L, McNay M, Ferguson-Smith MA (1983) Placental haemangioma. Case report. Br J Obstet Gynaecol 90:983–986.Google Scholar
  98. Mann L, Ferguson-Smith MA, Desai M, Gibson AAM, Raine PAM (1984) Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat Diagn 4:427–435.PubMedCrossRefGoogle Scholar
  99. Marchese C, Savin E, Dragone E, et al. (1985) Cystic hygroma: prenatal diagnosis and genetic counselling. Prenat Diagn 5:221–227.PubMedCrossRefGoogle Scholar
  100. Maron BJ (1997) Hypertrophic cardiomyopathy. Semin Lancet 350:127–133.CrossRefGoogle Scholar
  101. Medical Research Council (1978) An assessment of the hazards of amniocentesis. Br J Obstet Gynaecol 85(suppl 2):1–41.Google Scholar
  102. Medical Research Council (1991a) Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet 338:131–137.CrossRefGoogle Scholar
  103. Medical Research Council (1991b) European trial of chorion villus sampling. Lancet 337:1491–1499.CrossRefGoogle Scholar
  104. Milunsky A (2004) Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 5th ed. Johns Hopkins University Press, Baltimore.Google Scholar
  105. Mittal TK, Vujanic GM, Morrissey BM, Jones A (1998) Triploidy: antenatal sonographic features with postmortem correlation. Prenat Diagn 18:1253–1262.PubMedCrossRefGoogle Scholar
  106. Morrow J, Russel A, Guthrie E, et al. (2006) Malfor-mations risks of antiepileptic drugs in pregnancy: a prospective study from the UK Epilepsy and Pregnancy Register. J Neurol Psychiatry 77:193–198.CrossRefGoogle Scholar
  107. Nevin NC, Nevin J, Thompson W, O'Hara MD (1983) Cystic hygroma simulating encephalocele. Prenat Diagn 3:249–252.PubMedCrossRefGoogle Scholar
  108. Nevin NC, Ritchie A, McKeown F, Roberts G (1978) Raised alpha-fetoprotein levels in amniotic fl uid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet 15:61–78.PubMedCrossRefGoogle Scholar
  109. National Institute of Child Health and Human Develop-ment (NICHD) National Registry for Amniocentesis Study Group (1976) Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 236:1471–1476.CrossRefGoogle Scholar
  110. Nicolaides KH, Rodeck CH, Cosden GM (1986) Rapid karyotyping in non-lethal fetal malformations. Lancet 1:283–287.PubMedCrossRefGoogle Scholar
  111. Ogle RF, Rodeck CH (1998) Novel fetal imaging tech-niques. Curr Opin Obstet Gynecol 10:109–115.PubMedCrossRefGoogle Scholar
  112. Ossipoff V, Hall D (1977) Etiologic factors in the amni-otic band syndrome: a study of 24 patients. Birth Defects 13:117–132.PubMedGoogle Scholar
  113. Paneth N (1998) Prenatal sonography—safe or sinister? [commentary]. Lancet 352:5–6.PubMedCrossRefGoogle Scholar
  114. Poulton J, Macaulay V, Marchington DR (2003) Trans-mission, genetic counseling and prenatal diagnosis of mitochondrial DNA disease. In: Holt I (ed) Genet-ics of Mitochondrial Disease. Oxford Monographs in Medical Genetics No. 47. Oxford University Press, Oxford, pp. 309–326.Google Scholar
  115. Powers JM, Moser HW, Moser AB, et al. (1985) Fetal cerebrohepatorenal (Zellweger) syndrome: dysmor-phic, radiologic, biochemical, and pathologic fi nd-ings in four affected fetuses. Human Pathol 16:610–620.CrossRefGoogle Scholar
  116. Quintero RA, Romero R, Mahonev MJ, Vecchio M, Holden J, Hobbins JC (1992) Fetal haemorrhagic lesions after chorionic villus sampling [letter]. Lancet 339:193.PubMedCrossRefGoogle Scholar
  117. Rapola J (1989) Kidneys in Meckel's syndrome as a model of abnormal renal differentiation. Int J Dev Biol 33:177–182.PubMedGoogle Scholar
  118. Reardon W, (1996) Skeletal dysplasias detectable by DNA analysis. Prenat Diagn 16:1221–1236.PubMedCrossRefGoogle Scholar
  119. Rehder H (1978) Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis). Pathol Res Pract 162:316–326.PubMedGoogle Scholar
  120. Rehder H, Weitzel H (1978) Intrauterine amputations after amniocentesis. Lancet 1:382.PubMedCrossRefGoogle Scholar
  121. Rimoin DL, Connor JM, Pyeritz RE (2002) Emery and Rimoin's Principles and Practice of Medical Genetics, 4th ed. Churchill Livingstone, New York.Google Scholar
  122. Rosenstein BJ, Zeitlin PL (1998) Cystic fi brosis. Lancet 351:277–282.PubMedCrossRefGoogle Scholar
  123. Royal College of Obstetricians and Gynaecologists (2005) Guideline No. 8: Amniocentesis and CVVS sampling. RCOG, London.Google Scholar
  124. Royal College of Obstetricians and Gynaecologists (2006) Statement No. 5: Alcohol consumption and the outcomes of pregnancy. RCOG, London.Google Scholar
  125. Rushton DI (1981) Examination of products of conception from previable human pregnancies. J Clin Pathol 34:819–835.PubMedCrossRefGoogle Scholar
  126. Rutledge JC, Weinberg AG, Friedman JM, Harrod MJ, Santos-Ramos R (1986) Anatomic correlates of ultra-sonographic prenatal diagnosis. Prenat Diagn 6:51–61.PubMedCrossRefGoogle Scholar
  127. Ryan AK, Goodship JA, Wilson DL, et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q deletions: a European collaborative study. J Med Genet 34:798–804.PubMedCrossRefGoogle Scholar
  128. Salonen R, Paavola P (1998) Meckel syndrome. J Med Genet 35:497–501.PubMedCrossRefGoogle Scholar
  129. Sankar VH, Phadke SR (2006) Clinical utility of fetal autopsy and comparison with prenatal ultrasound fi ndings. J Perinatol 26:224–229.PubMedCrossRefGoogle Scholar
  130. Schinzel A (2001) Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd ed. De Grutyer, Berlin.Google Scholar
  131. Seeds JW, Cefalo RC, Herbert WNP (1982) Amniotic band syndrome. Am J Obstet Gynecol 144:243–248.PubMedGoogle Scholar
  132. Seller MJ, Creasy MR, Alberman ED (1974) Alpha feto-protein levels in amniotic fl uids from spontaneous abortions. Br Med J 2:524–525.PubMedCrossRefGoogle Scholar
  133. Seller MJ, Dumon JE, Vanderheyden JS (1977) Amniotic fl uid in multiple pregnancy. Br Med J 1:1600.PubMedCrossRefGoogle Scholar
  134. Seppala M (1973) Increased alpha-fetoprotein in amni-otic fl uid associated with a congenital oesophageal atresia of the fetus. Obstet Gynecol 42:623–624.CrossRefGoogle Scholar
  135. Shen-Schwartz S, Neish C, Hill LM (1989) Antenatal ultrasound for fetal anomalies: importance of perinatal autopsy. Pediatr Pathol 9:1–10.CrossRefGoogle Scholar
  136. Singer N, Gersen S, Warburton D (1987) The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2) (p24 pter). Prenat Diagn 7:567–571.PubMedCrossRefGoogle Scholar
  137. Smith NM, MacKenzie S, De Silva C, Bell JE (1997) Correlation of postmortem ventriculography and neuro-pathological examination in the demonstration of fetal hydrocephaly. Pediatr Pathol Lab Med 17:691–692.Google Scholar
  138. Soothill PW, Rodeck CH (1994) First-trimester fetal necropsy after ultrasound-guided aspiration [letter]. Lancet 343:1096–1097.PubMedCrossRefGoogle Scholar
  139. Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH (2005) Increased nuchal translucency with normal karyotype Am J Obstet Gynecol 192;1005–1021.PubMedCrossRefGoogle Scholar
  140. Spranger J, Benirschke K, Hall JG, et al. (1982) Errors of morphogenesis: concepts and terms. Recommendations of an International Working Group. J Pediatr 100:160–165.Google Scholar
  141. Squier M, Chamberlain P, Zaiwalla Z, et al. (2000) Five cases of brain injury following amniocentesis in midterm pregnancy. Dev Med Child Neurol 42:554–560.PubMedCrossRefGoogle Scholar
  142. Stirrat GM, Gough JD, Bullock S, Wald NJ, Cuckle HS (1981) Raised maternal serum AFP, oligohydramnios and poor fetal outcome. Br J Obstet Gynaecol 88:231–235.PubMedGoogle Scholar
  143. Strachan T, Read AP (2004) Human Molecular Genetics, 3rd ed. Garland Science, New York.Google Scholar
  144. Sun C-CJ, Grumback K, DeCosta DT, Meyers CM, Dungan JS (1999) Correlation of prenatal ultrasound diagnosis and pathologic fi ndings in fetal anomalies. Pediatr Dev Pathol 2:131–142.PubMedCrossRefGoogle Scholar
  145. Swift PGF, Driscoll IB, Vawles KDJ (1979) Neonatal small bowel obstruction associated with amniocente-sis. Br Med J I:720.Google Scholar
  146. Tabor A, Philip J, Marsden M, Bary J, Obel FB, Mor-gaard-Pedersen B (1986) Randomised controlled trial of genetic amniocentesis in 4,606 low-risk women. Lancet 1:1287–1293.PubMedCrossRefGoogle Scholar
  147. Therkensen AJ, Rehder H (1981) Intestinal atresia caused by second trimester amniocentesis. Br J Obstet Gynaecol 88:559–562.Google Scholar
  148. Torfs C, Curry C, Roeper P (1990) Gastroschisis. J Pediatr 116:1–6.PubMedCrossRefGoogle Scholar
  149. van de Kaa CA (1991) Interphase cytogenetics in paraf-fi n sections of routinely processed hydatidiform moles and hydropic abortions. J Pathol 165:281–287.PubMedCrossRefGoogle Scholar
  150. Villo N, Beciero J, Cebrero M, Garcia de Frias E (2001) Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation. Arch Dis Child (Fetal Neonatal Ed) 84:F63-F64.Google Scholar
  151. Vincent A, Newland C, Brueton L, et al. (1995) Arthrogryposis multiplex congenita with maternal antibodies specifi c for a fetal antigen. Lancet 346:24–25.PubMedCrossRefGoogle Scholar
  152. Vinson PC, Goldenberg RL, Davis RO, et al. (1977) Fetal bladder neck obstruction and elevated amniotic fl uid alpha fetoprotein. N Engl J Med 297:1351.Google Scholar
  153. Wald NJ, Cuckle H, Stirrat GM, Turnbull AC (1978) Maternal serum alpha fetoprotein and birth weight in twin pregnancies. Br J Obstet Gynaecol 85:582–584.PubMedGoogle Scholar
  154. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM (2003) First and second trimester antenatal screening for Down&s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 7(11).Google Scholar
  155. Warburton D, Byrne J, Canki N (1991) Chromosome Anomalies and Prenatal Development: An Atlas. Oxford University Press, Oxford.Google Scholar
  156. Weinberg AG, Milunsky A, Harrod MJ (1975) Elevated amniotic fl uid alpha fetoprotein and duodenal atresia. Lancet 2:496.PubMedCrossRefGoogle Scholar
  157. Weston MJ, Porter HJ, Andrews HS, Berry PJ (1993) Correlation of antenatal ultrasonography and pathological examinations in 153 malformed fetuses. J Clin Ultrasound 21:387–392.PubMedCrossRefGoogle Scholar
  158. Wisniewski L, Skrgydlewski Z, Orciuch J (1974) Alpha-fetroprotein in amniotic fl uid in early normal pregnancy and intrauterine fetal death. Br Med J 3:742.PubMedCrossRefGoogle Scholar
  159. Yeo L, Guzman ER, Shen-Schwartz S, Walters C, Vintzilen AM (2002) Value of a complete sonographic survey in detecting fetal abnormalities: correlation with perinatal autopsy. J Ultrasound Med 21:501–510s.PubMedGoogle Scholar
  160. Young ID, Lindenbaum RH, Thompson EM, Pembrey ME (1985) Amniotic bands in connective tissue disorders. Arch Dis Child 60:1061–1063.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London Limited 2007

Authors and Affiliations

  • Patricia A. Boyd
    • 1
  • Jean W. Keeling
    • 2
  1. 1.Oxford Regional Prenatal Diagnosis Service, National Perinatal Epidemiology UnitCongenital Anomaly Register for Oxfordshire Berkshire and Buckinghamshire, University of OxfordOxfordUK
  2. 2.Infirmary of Edinburgh, University of EdinburghRoyal Hospital for Sick Children and RoyalEdinburghUK

Personalised recommendations