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Congenital Malformations, Prenatal Diagnosis and Fetal Examination

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Abstract

Congenital malformations are an important cause of perinatal and infant mortality and morbidity. Three per cent of newborns have a single major malformation and 0.7% have multiple major defects. They have fascinated curious individuals for centuries but 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. 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 8). Clinical interest in malformations has been enhanced because sophisticated surgical and anaesthetic management makes correction of some major defects possible. This and the recognition of syndromes, their mode of inheritance and sometimes their aetiology requires detailed information from the pathologist in respect of those babies who die.

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References

  • American Journal of Medical Genetics (1990) 35: 157-218

    Google Scholar 

  • Arulkumaran S, Rodeck CH (1990) Invasive prenatal diagnostic techniques. Fetal Med Review 2: 171–185

    Article  Google Scholar 

  • Aitken DA, May HM, Ferguson-Smith MA (1984) Amniotic band disruption syndrome associated with elevated amniotic AFP and normal acetylcholinesterase gel test. Prenat Diagn 4: 443–446

    Article  PubMed  CAS  Google Scholar 

  • Balfour RO, Laurence KM (1980) Raised serum AFP levels and fetal renal agenesis. Lancet I: 317

    Article  Google Scholar 

  • Ballantyne JW (1902) Manual of antenatal pathology and hygiene. Green, Edinburgh, pp 272–277

    Google Scholar 

  • Barson AJ, Donnai P, Ferguson A, Donnai D, Read AP (1980) Haemangioma of the cord: further cause of raised maternal serum and liquor alphafetoprotein. Br Med J 281: 1252

    Article  PubMed  CAS  Google Scholar 

  • Batcup G, Clarke JP, Purdie DW (1988) Disposal arrangements for fetuses lost in the second trimester. Br J Obstet Gynaecol 95: 547–550

    Article  PubMed  CAS  Google Scholar 

  • Benirschke K, Lowry RB, Opitz JM, Schwarzacher HG, Spranger JW (1979) Developmental terms—some proposals: first report of an international working group. Am J Med Genet 3: 297

    Article  PubMed  CAS  Google Scholar 

  • Bieber FR, Petres RE, Bieber JMcN, Nance WE (1979) Prenatal detection of a familial nuchal bleb simulating encephalocoele. Birth Defects XV(5A): 51–61

    Google Scholar 

  • Bogart MH, Paradian MR, Jones VW (1987) Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 7: 623–630

    Article  PubMed  CAS  Google Scholar 

  • Boulot P, Hedon B, Deschamps F et al. (1990) Anencephaly-like malformation in surviving twin after embryonic reduction. Lancet 335: 1155–1156

    Article  PubMed  CAS  Google Scholar 

  • Boyd PA, Keeling JW, Lindenbaum RH (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome: a review of eleven cases with postmortem findings. Am J Med Genet 31: 159–168

    Article  PubMed  CAS  Google Scholar 

  • Boyd PA, Keeling JW, Selinger M, MacKenzie IZ (1990) Limb reduction and chorion villus sampling. Prenat Diagn 10: 437–441

    Article  PubMed  CAS  Google Scholar 

  • Boyd PA (1992) Why might maternal serum AFP be high in pregnancies in which the fetus is normally formed? Br J Obstet Gynaecol 99: 93–95

    Article  PubMed  CAS  Google Scholar 

  • Brock DJH, Sutcliffe RG (1972) Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet II: 197–199

    Article  Google Scholar 

  • Brock DJH, Barron L, Bedgood D, Hawward C (1985) Prospective prenatal diagnosis of cystic fibrosis. Lancet I: 1175–1178

    Article  Google Scholar 

  • Canadian Collaborative CVS-amniocentesis Clinical Trial Group (1989) Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. Lancet I: 1–6

    Google Scholar 

  • 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 

  • Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ (1988) Low second trimester maternal serum unconjugated oestriol in pregnancies with Down’s syndrome. Br J Obstet Gynaecol 95: 330–333

    Article  PubMed  CAS  Google Scholar 

  • Carter CO (1963) The genetics of common malformation. In: Proceedings, II international conference on congenital malformations. The Medical Congress Ltd, New York, pp 306–313

    Google Scholar 

  • Carter CO (1969) Genetics of common disorders. Br Med Bull 25: 52–57

    PubMed  CAS  Google Scholar 

  • Chemke J, Miskin A, Rav-acha Z, Porath A, Sagiv M, Katz Z (1977) Prenatal diagnosis of Meckel syndrome: alpha-fetoprotein and beta trace protein in amniotic fluid. Clin Genet 11: 285–289

    Article  PubMed  CAS  Google Scholar 

  • Chitayat D, Kalousek DK, Bamforth JS (1989) Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet 33: 352–356

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  CAS  Google Scholar 

  • Colten HR (1990) Screening for cystic fibrosis. N Engl J Med 322: 328–329

    Article  PubMed  CAS  Google Scholar 

  • Cowchock FS, Wapner RJ, Kurtz A, Chatzkel S, Barnhart JS Jr, Lesnick DC (1982) Brief clinical report: not all cystic hygromas occur in the Ullrich-Turner syndrome. Am J Med Genet 12: 327–331

    Article  PubMed  CAS  Google Scholar 

  • Cuckle HS, Wald NJ, Goodburn SF, Sneddon J, Amess JAL, Carlson Dunn S (1990) Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down’s syndrome. Br Med J 301: 1024–1026

    Article  CAS  Google Scholar 

  • Daffos F, Capella-Pavlovsky M, Forestier F (1983) Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Prenat Diagn 3: 271–274

    Article  PubMed  CAS  Google Scholar 

  • Elder SH, Laurence KM (1991) The impact of supportine intervention after second trimester termination of pregnancy for fetal abnormality. Prenat Diagn 11: 47–54

    Article  PubMed  CAS  Google Scholar 

  • Elejalde BR, Elejalde MM, Acuna JM et al. (1990) Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis. Am J Med Genet 35: 188–196

    Article  PubMed  CAS  Google Scholar 

  • Emery AEH, Rimoin DL (eds) (1990) Principles and practice of medical genetics. Churchill Livingstone, Edinburgh, Chapters 18 and 19

    Google Scholar 

  • Eydoux P, Choiset A, le Porrier N et al. (1989) Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment. Prenat Diagn 9: 255–268

    Article  PubMed  CAS  Google Scholar 

  • Ferguson-Smith MA (1983) The reduction of anencephalic and spina bifida births by maternal serum alpha-feto-protein screening. Br Med Bull 39: 365–372

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Fitzsimons JS, Filshie GM, Hill AS, Kime R (1976) Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-fetoprotein. J Med Genet 13: 400–412

    Article  Google Scholar 

  • Fu YH, Kuhl DPA, Pizzutr A et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic stability: resolution of the Sherman paradox. Cell 67: 1047–1058

    Article  PubMed  CAS  Google Scholar 

  • Gardner RJM, Sutherland GR (1989) Chromosome abnormalities and genetic counselling. Oxford Monographs on Medical Genetics No 17. Oxford University Press

    Google Scholar 

  • Gau GS, Napier K, Bhundia J (1991) Use of a tissue adhesive to repair fetal bodies after dissection. J Clin Pathol 44: 759–760

    Article  PubMed  CAS  Google Scholar 

  • Gitlin D (1975) Normal biology of alpha-fetoprotein. Ann NY Acad Sci 259: 7–16

    Article  PubMed  CAS  Google Scholar 

  • Graham J, Smith D (1981) Dominantly inherited pterygium colli. J Pediatr 98: 664–665

    Google Scholar 

  • Graham JM, Edwards MJ, Lipson AH, Webster NS (1988) Gestational hyperthermia as a cause for Moebius’ syn-drome. Teratology 37: 461–462

    Google Scholar 

  • Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46: 857–873

    PubMed  CAS  Google Scholar 

  • Hall JG, Pauli RM, Wilson KM (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68: 122–140

    Article  PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Hauge M, Bugge M, Nielsen J (1983) Early prenatal diagnosis of omphalocoele constitutes indication for amniocentesis. Lancet II: 507

    Article  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Hoagland MH, Frank KA, Hutchins GM (1988) Prune-belly syndrome with prostatic hypoplasia, bladder wall rupture, and massive ascites in a fetus with trisomy 18. Arch Pathol Lab Med 112: 1126–1128

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Hook (1990) Chromosome abnormalities in older women by maternal age. Am J Med Genet 35: 184–187

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Jones KL (1988) Smith’s recognizable patterns of human malformation, 4th edn. Saunders, Philadelphia

    Google Scholar 

  • Jones KL, Smith DW, Ulleland N, Streissguth AP (1973) Pattern of malformation in offspring of chronic alcoholic mothers. Lancet 1: 1267–1271

    Article  PubMed  CAS  Google Scholar 

  • Kalousek DK, Barrett I, McGillivray BC (1989) Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44: 338–343

    PubMed  CAS  Google Scholar 

  • Kalousek DK, Fitch N, Paradice BA (1990) Pathology of the human embryo and previable fetus. An atlas. Springer-Verlag, New York

    Book  Google Scholar 

  • Keeling JW, Manning N, Chamberlain P (1990) Accuracy of fetal anomaly scanning. Pediatr Pathol 10: 653

    Google Scholar 

  • Kerem B, Rommens JM, Buchanan JA et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080

    Article  PubMed  CAS  Google Scholar 

  • Kjessler B, Johansson SGO, Sherman M, Gustavson KH, Hultqvist G (1975) Alphafetoprotein in antenatal diagnosis of congenital nephrosis. Lancet I: 432–433

    Article  Google Scholar 

  • Knowles SAS (1986) Examination of products of conception terminated after prenatal investigation. J Clin Pathol 39: 1049–1065

    Article  PubMed  CAS  Google Scholar 

  • Koontz WL, Seeds JW, Adams NJ, Johnson AM, Cefato RC (1983) Elevated maternal serum alpha-fetoprotein, second-trimester oligohydramnios and pregnancy outcome. Obstet Gynecol 62: 301–304

    Article  PubMed  CAS  Google Scholar 

  • Lamb MP (1975) Gangrene of a fetal limb due to amniocentesis. Br J Obstet Gynaecol 82: 829–830

    Article  PubMed  CAS  Google Scholar 

  • Lammer EJ, Chen DT, Hoar RM et al. (1985) Retinoic acid embryopathy. N Engl J Med 313: 837–841

    Article  PubMed  CAS  Google Scholar 

  • Lancet (1991) Editorial. Imprinting makes an impression. Lancet 338: 413–414

    Article  Google Scholar 

  • Laurence KM (1982) Antenatal detection of neural tube defects. In: Barson AJ (ed) Fetal and neonatal pathology. Praeger, New York, p 87

    Google Scholar 

  • Laurence KM, Martin D (1959) A technique for obtaining undistorted specimens of the central nervous system. J Clin Pathol 12: 188–190

    Article  PubMed  CAS  Google Scholar 

  • Lilford RJ (1991) Editorial. The rise and fall of chorion villus sampling. Br Med J 303: 936–937

    Article  CAS  Google Scholar 

  • Macken MB, Grantmyre EB, Vincer MJ (1989) An ultrasonic view of the developing fetus. Obstet Gynecol Surv 38: 375–398

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Mann L, Alroomi L, McNay M, Ferguson-Smith MA (1983) Placental haemangioma. Case report. Br J Obstet Gynaecol 90: 983–986

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Manning FA, Harman CR, Lange IR et al. (1983) Antepartum chronic fetal vesico-amniotic shunts for obstructive uropathy: a report of two cases. Am J Obstet Gynecol 145: 819

    PubMed  CAS  Google Scholar 

  • Marchese C, Savin E, Dragone E et al. (1985) Cystic hygroma: prenatal diagnosis and genetic counselling. Prenat Diagn 5: 221–227

    Article  PubMed  CAS  Google Scholar 

  • Markowski B, Lawler SD (1977) Use of early fetal tissues obtained from suction termination of pregnancy. Lancet I: 186–188

    Article  Google Scholar 

  • Martinez-Frias M-L (1991) Valproic acid and spina bifida. Lancet 338: 196–197

    Article  PubMed  CAS  Google Scholar 

  • McKusick VA (1990) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes, 8th edn. John Hopkins, Baltimore

    Google Scholar 

  • Medical Research Council (1978) An assessment of the hazards of amniocentesis. Br J Obstet Gynaecol 85 (suppl 2): 1–41

    Google Scholar 

  • Medical Research Council (1991a) European trial of chorion villus sampling. Lancet 337: 1491–1499

    Article  Google Scholar 

  • Medical Research Council (1991b) Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet 338: 131–137

    Article  Google Scholar 

  • Merkatz IR, Nitowsky HM, Macri JN, Johnson WE (1984) An association between low maternal serum alphafeto-protein and fetal chromosome abnormalities. Am J Obstet Gynecol 148: 886–894

    PubMed  CAS  Google Scholar 

  • Nevin NC, Nevin J, Thompson W, O’Hara MD (1983) Cystic hygroma simulating encephalocele. Prenat Diagn 3: 249–252

    Article  PubMed  CAS  Google Scholar 

  • NICHD National Registry for Amniocentesis Study Group (1976) Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 236: 1471–1476

    Article  Google Scholar 

  • Nicolaides KH, Rodeck CH, Gosden GM (1986) Rapid karyotyping in non-lethal fetal malformations. Lancet I: 283–287

    Article  Google Scholar 

  • Norgaard-Pedersen B, Bagger P, Bang J et al. (1985) Maternal serum alphafetoprotein screening for fetal malformations in 28062 pregnancies. A four-year experience from a low-risk area. Acta Obstet Gynecol Scand 64: 511–514

    Article  PubMed  CAS  Google Scholar 

  • Oberlé I, Rousseau F, Heitz D et al. (1991) Instability of a 550 bp DNA segment and abnormal methylation in fragile X syndrome. Science 252: 1097–1102

    Article  Google Scholar 

  • Ornoy A (1991) The effects of pharmacological agents on the human fetus. Pediatr Pathol 11: 807–812

    Article  PubMed  CAS  Google Scholar 

  • Ossipoff V, Hall D (1977) Etiologic factors in the amniotic band syndrome: a study of 24 patients. Birth Defects XIII(3D): 117–132

    Google Scholar 

  • Pagon RA, Stephens TD, McGillivray BC et al. (1979) Body wall defects with reduction limb anomalies: a report of fifteen cases. Birth Defects XV(5A): 171–185

    Google Scholar 

  • Quintero RA, Romero R, Mahoney MJ, Vecchio M, Holden J, Hobbins JC (1992) Fetal haemorrhagic lesions after chorionic villus sampling (letter). Lancet 339: 193

    Article  PubMed  CAS  Google Scholar 

  • Reeders ST, Breuning MH, Davies KE et al. (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542–544

    Article  PubMed  CAS  Google Scholar 

  • Rehder H (1978) Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis). Pathol Res Pract 162: 316–326

    Article  PubMed  CAS  Google Scholar 

  • Rehder H, Weitzel H (1978) Intrauterine amputations after amniocentesis. Lancet 1: 382

    Article  PubMed  CAS  Google Scholar 

  • Riordan JR, Rommens JM, Kerem et al. (1989) Identification of the cystic fibrosis gene: cloning and characterisation of complementary DNA. Science 245: 1066–1073

    Article  PubMed  CAS  Google Scholar 

  • Rommens JM, Ianuzzi MC, Kerem B et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065

    Article  PubMed  CAS  Google Scholar 

  • Rushton DI (1981) Examination of products of conception from previable human pregnancies. J Clin Pathol 34: 819–835

    Article  PubMed  CAS  Google Scholar 

  • Rutledge JC, Weinberg AG, Friedman JM, Harrod MJ, Santos-Ramos R (1986) Anatomic correlates of ultrasonographic prenatal diagnosis. Prenat Diagn 6: 51–61

    Article  PubMed  CAS  Google Scholar 

  • Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. Walter de Gruyter, Berlin, New York

    Google Scholar 

  • Seeds JW, Cefalo RC, Herbert WNP (1982) Amniotic band syndrome. Am J Obstet Gynecol 144: 243–248

    PubMed  CAS  Google Scholar 

  • Seller MJ, Creasy MR, Alberman ED (1974) Alphafetoprotein levels in amniotic fluids from spontaneous abortions. Br Med J II: 524–525

    Article  Google Scholar 

  • Seller MJ, Dumon JE, Vanderheyden JS (1977) Amniotic fluid in multiple pregnancy. Br Med J I: 1600

    Article  Google Scholar 

  • Seppala M (1973) Increased alphafetoprotein in amniotic fluid associated with a congenital oesophageal atresia of the fetus. Obstet Gynecol 42: 623–624

    Article  Google Scholar 

  • Shen-Schwartz S, Neish C, Hill LM (1989) Antenatal ultrasound for fetal anomalies: importance of perinatal autopsy. Pediatr Pathol 9: 1–10

    Article  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Smith DW (1982) Recognizable patterns of human malformation. (Major problems in clinical pediatrics, vol VII), Saunders, London

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Swift PGF, Driscoll IB, Vawles KDJ (1979) Neonatal small bowel obstruction associated with amniocentesis. Br Med J I: 720

    Article  Google Scholar 

  • Szulman AE, Surti U (1982) The clinicopathologic profile of the partial hydatidiform mole. Obstet Gynecol 59: 597–602

    PubMed  CAS  Google Scholar 

  • Tabor A, Philip J, Marsden M, J, Obel FB, Morgaard-Pedersen B (1986) Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet I: 1287–1293

    Article  Google Scholar 

  • Terry GM, Ho-Terry L, Warren RC et al. (1986) First trimester prenatal diagnosis of congenital rubella: a laboratory investigation. Br Med J 292: 930–932

    Article  CAS  Google Scholar 

  • Therkensen AJ, Rehder H (1981) Intestinal atresia caused by second trimester amniocentesis. Br J Obstet Gynaecol 88: 559–562

    Article  Google Scholar 

  • Thorn H, Johnstone FD, Gibson JI, Scott GB, Noble DW (1977) Fetal proteinuria in diagnosis of congenital nephrosis detected by raised alpha-fetoprotein in maternal serum. Br Med J I: 16–18

    Google Scholar 

  • Torfs C, Curry C, Roeper P (1990) Gastroschisis. J Pediatr 116: 1–6

    Article  PubMed  CAS  Google Scholar 

  • van de Kaa CA (1991) Interphase cytogenetics in paraffin sections of routinely processed hydatidiform moles and hydropic abortions. J Pathol 165: 281–287

    Article  PubMed  Google Scholar 

  • van der Putte SCJ (1977) Lymphatic malformation in human fetuses: a study of fetuses with Turner’s syndrome or Status Bonnevie-Ullrich. Virchows Arch (A) 376: 233–246

    Google Scholar 

  • Vinson PC, Goldenberg RL, Davis RO et al. (1977) Fetal bladder neck obstruction and elevated amniotic fluid alphafetoprotein. New Engl J Med 297: 1351

    Google Scholar 

  • Wald NJ, Cuckle H, Stirrat GM, Turnbull AC (1978) Maternal serum alphafetoprotein and birth weight in twin pregnancies. Br J Obstet Gynaecol 85: 582–584

    Article  PubMed  CAS  Google Scholar 

  • Wald NJ, Cuckle HS, Densem JW et al. (1988) Maternal serum Screening for Down’s syndrome in early pregnancy. Br Med J 297: 883–887

    Article  CAS  Google Scholar 

  • Warburton D, Byrne J, Canki N (1991) Chromosome anomalies and prenatal development: an atlas. Oxford University Press

    Google Scholar 

  • Weatherall DJ (1991) The new genetics and clinical practice, 3rd edn. Oxford University Press

    Google Scholar 

  • Weidemann H-R, Grosse K-R, Dibbern H (1985) An atlas of characteristic syndromes. A visual aid to diagnosis. Wolfe Medical, London

    Google Scholar 

  • Weinberg AG, Milunsky A, Harrod MJ (1975) Elevated amniotic fluid alphafetoprotein and duodenal atresia. Lancet II: 496

    Article  Google Scholar 

  • Wisniewski L, Skrgydlewski Z, Orciuch J (1974) Alphafetoprotein in amniotic fluid in early normal pregnancy and intrauterine fetal death. Br Med J III: 742

    Article  Google Scholar 

  • Young ID, Lindenbaum RH, Thompson EM, Pembrey ME (1985) Amniotic bands in connective tissue disorders. Arch Dis Child 60: 1061–1063

    Article  PubMed  CAS  Google Scholar 

  • Youroukos S, Papadelis F, Matsaniotis N (1980) Porencephalic cysts after amniocentesis. Arch Dis Child 55: 814–815

    Article  PubMed  CAS  Google Scholar 

  • Yu S, Kremer E, Pritchard M et al. (1991) The fragile X gene type is characterised by an unstable region of DNA. Science 252: 1179–1181

    Article  CAS  Google Scholar 

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Keeling, J.W., Boyd, P.A. (1993). Congenital Malformations, Prenatal Diagnosis and Fetal Examination. In: Keeling, J.W. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-4471-3802-0_4

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