Skip to main content
SpringerLink
Log in

Congenital Abnormalities: Prenatal Diagnosis and Screening

  • Chapter
Keeling’s Fetal and Neonatal Pathology

Abstract

Congenital malformations are a major cause of mortality and morbidity in the prenatal, perinatal, and neonatal periods. Three percent of newborns have a single major malformation and 0.7 % of newborns have multiple abnormalities. The majority of pregnancies in which major congenital abnormalities occur result in miscarriage, spontaneous fetal loss, or termination of pregnancy. With significant advances in imaging modalities and genetic testing capability, the identification and precise diagnosis of syndromic congenital abnormalities is occurring increasingly. Significant resource allocation and a multidisciplinary approach to fetal autopsy that involves pathologists, radiologists, clinical geneticists, microbiologists, and obstetricians have led to a high rate of case resolution for families experiencing the trauma of pregnancy loss or termination.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Barnett CP, Thompson E. Dysmorphology. In: South M, editor. Practical paediatrics. 7th ed. Edinburgh: Churchill Livingstone; 2012.

    Google Scholar 

  2. Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014;111:11473–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Firth HV, Hurst JA. Desk reference: clinical genetics. Oxford: Oxford University Press; 2005.

    Google Scholar 

  4. Abbs S. Prenatal diagnosis of Duchenne and Becker muscular dystrophy. Prenat Diagn. 1996;16:1187–98.

    Article  CAS  PubMed  Google Scholar 

  5. Emery AE. The muscular dystrophies. Lancet. 2002;359:687–95.

    Article  CAS  PubMed  Google Scholar 

  6. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counselling, Oxford monographs on medical genetics. 4th ed. Oxford: Oxford University Press; 2012.

    Google Scholar 

  7. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2011;37:6–14.

    Article  Google Scholar 

  8. Lichtenbelt KD, Knoers NV, Schuring-Blom GH. From karyotyping to array-cgh in prenatal diagnosis. Cytogenet Genome Res. 2011;135:241–50.

    Article  CAS  PubMed  Google Scholar 

  9. Scott F, Murphy K, Carey L, Greville W, Mansfield N, Barahona P, et al. Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases. Ultrasound Obstet Gynecol. 2013;41:500–7.

    Article  CAS  Google Scholar 

  10. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32:986–95.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Schinzel A. Catalogue of unbalanced chromosome aberrations in man. 2nd ed. Berlin: De Grutyer; 2001.

    Google Scholar 

  13. https://decipher.sanger.ac.uk.

  14. Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet. 1982;46:223–31.

    Article  CAS  PubMed  Google Scholar 

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

    Google Scholar 

  16. van de Kaa CA, Nelson KA, Ramaekers FC, Vooijs PG, Hopman AH. Interphase cytogenetics in paraffin sections of routinely processed hydatidiform moles and hydropic abortions. J Pathol. 1991;165:281–7.

    Article  PubMed  Google Scholar 

  17. Jones KL. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders; 2006.

    Google Scholar 

  18. Goodman FR. Congenital abnormalities of body patterning: embryology revisited. Lancet. 2003;362:651–62.

    Article  PubMed  Google Scholar 

  19. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798–804.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Strachan T, Read AP. Human molecular genetics. 3rd ed. New York: Garland Science; 2004.

    Google Scholar 

  21. Donnai D, Read AP. How clinicians add to knowledge of development. Lancet. 2003;362:477–84.

    Article  PubMed  Google Scholar 

  22. Engel E. Uniparental disomy revisited: the first twelve years. Am J Med Genet A. 1993;46:670–4.

    Article  CAS  Google Scholar 

  23. Poulton J, Macaulay V, Marchington DR. Transmission, genetic counseling and prenatal diagnosis of mitochondrial DNA disease. In: Holt I, editor. Genetics of mitochondrial disease, Oxford monographs in medical genetics, vol. 47. Oxford: Oxford University Press; 2003. p. 309–26.

    Google Scholar 

  24. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92:10–25.

    Article  CAS  PubMed  Google Scholar 

  25. Carter CO. Genetics of common disorders. Br Med Bull. 1969;25:52–7.

    Article  CAS  PubMed  Google Scholar 

  26. Bomprezzi R, Kovanen PE, Martin R. New approaches to investigating heterogeneity in complex traits. J Med Genet. 2003;40:553–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991;338:131–7.

    Article  Google Scholar 

  28. EUROCAT. Eurocat special report: a review of environmental risk factors for congenital anomalies. EUROCAT Central Registry, University of Ulster; 2004; Available from: http://www.eurocat-network.eu/pubdata/.

  29. Harden CL, Meador KJ, Pennell PB, Hauser WA, Gronseth GS, French JA, et al. Practice parameter update: management issues for women with epilepsy–focus on pregnancy (an evidence-based review): teratogenesis and perinatal outcomes: report of the quality standards subcommittee and therapeutics and technology assessment subcommittee of the american academy of neurology and american epilepsy society. Neurology. 2009;73:133–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Levy HL, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology. 1996;53:176–84.

    Article  CAS  PubMed  Google Scholar 

  31. Young ID, Lindenbaum RH, Thompson EM, Pembrey ME. Amniotic bands in connective tissue disorders. Arch Dis Child. 1985;60:1061–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Vincent A, Newland C, Brueton L, Beeson D, Riemersma S, Huson SM, et al. Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Lancet. 1995;346:24–5.

    Article  CAS  PubMed  Google Scholar 

  33. Blomberg MI, Källén B. Maternal obesity and morbid obesity: the risk for birth defects in the offspring. Birth Defects Res A Clin Mol Teratol. 2010;88:35–40.

    CAS  PubMed  Google Scholar 

  34. Koren G, Pastuszak A, Ito S. Drugs in pregnancy. N Engl J Med. 1998;338:1128–37.

    Article  CAS  PubMed  Google Scholar 

  35. Lateef TM, Nelson KB. In utero exposure to antiepileptic drugs: teratogenicity and neonatal morbidity. Curr Neurol Neurosci Rep. 2007;7:133–8.

    Article  CAS  PubMed  Google Scholar 

  36. Hall JG, Pauli RM, Wilson KM. Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med. 1980;68:122–40.

    Article  CAS  PubMed  Google Scholar 

  37. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, et al. Retinoic acid embryopathy. N Engl J Med. 1985;313:837–41.

    Article  CAS  PubMed  Google Scholar 

  38. Jones KL, Smith DW, Ulleland CN, Streissguth P. Pattern of malformation in offspring of chronic alcoholic mothers. Lancet. 1973;1:1267–71.

    Article  CAS  PubMed  Google Scholar 

  39. Royal College of Obstetricians and Gynaecologists. Statement no. 5: alcohol consumption and the outcomes of pregnancy. London: RCOG; 2006.

    Google Scholar 

  40. Cressman AM, Natekar A, Kim E, Koren G, Bozzo P. Cocaine abuse during pregnancy. J Obstet Gynaecol Can. 2014;36:628–31.

    Article  PubMed  Google Scholar 

  41. Martinez-Frías ML, Garcia Mazario MJ, Caldas CF, Conejero Gallego MP, Bermejo E, Rodriguez-Pinilla E. High maternal fever during gestation and severe congenital limb disruptions. Am J Med Genet. 2001;98:201–3.

    Article  PubMed  Google Scholar 

  42. Whitworth M, Bricker L, Neilson JP, Dowswell T. Ultrasound for fetal assessment in early pregnancy. Cochrane Database of Syst Rev. 2010(4):CD007058.

    Google Scholar 

  43. Boulot P, Hedon B, Deschamps F, Laffargue F, Viala JL, Humeau C, et al. Anencephaly-like malformation in surviving twin after embryonic reduction. Lancet. 1990;335:1155–6.

    Article  CAS  PubMed  Google Scholar 

  44. Kuliev A, Verlinsky Y. Preimplantation genetic diagnosis: technological advances to improve accuracy and range of applications. Reprod Biomed Online. 2008;16:532–8.

    Article  PubMed  Google Scholar 

  45. Daley R, Hill M, Chitty LS. Non-invasive prenatal diagnosis: progress and potential. Arch Dis Child Fetal Neonatal Ed. 2014;99:F426–30.

    Article  PubMed  Google Scholar 

  46. Milunsky A, Milunsky J. Genetic disorders and the fetus: diagnosis, prevention and treatment. 6th ed. Baltimore: Wiley-Blackwell; 2010.

    Google Scholar 

  47. Avgidou K, Papageorghiou A, Bindra R, Spencer K, Nicolaides KH. Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies. Am J Obstet Gynecol. 2005;192:1761–7.

    Article  PubMed  Google Scholar 

  48. Bilardo CM, Timmerman E, Pajkrt E, van Maarle M. Increased nuchal translucency in euploid fetuses–what should we be telling the parents? Prenat Diagn. 2010;30:93–102.

    Article  CAS  PubMed  Google Scholar 

  49. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353:2001–11.

    Article  CAS  PubMed  Google Scholar 

  50. Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005;192:1005–21.

    Article  PubMed  Google Scholar 

  51. Bilardo CM, Muller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol. 2007;30:11–8.

    Article  CAS  PubMed  Google Scholar 

  52. Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ Clin Res Ed. 2006;332:452–5.

    Article  Google Scholar 

  53. Haak MC, van Vugt JM. Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update. 2003;9:175–84.

    Article  PubMed  Google Scholar 

  54. Gagnon A, Wilson RD, Allen VM, Audibert F, Blight C, Brock JA, et al. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009;31:875–81. 882–879.

    Article  PubMed  Google Scholar 

  55. Hobbins JC, Lezotte DC, Persutte WH, DeVore GR, Benacerraf BR, Nyberg DA, et al. An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies. J Ultrasound Med. 2003;22:33–8.

    Article  PubMed  Google Scholar 

  56. Bricker L, Garcia J, Henderson J, Mugford M, Neilson J, Roberts T, et al. Ultrasound screening in pregnancy: a systematic review of the clinical effectiveness, cost-effectiveness and women’s views. Health Technol Assess Winchester, Engl. 2000;4:i–vi. 1–193.

    CAS  Google Scholar 

  57. Roshanai AH, Ingvoldstad C, Lindgren P. Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected? Acta Obstet Gynecol Scand. 2015;94:141–7.

    Article  PubMed  Google Scholar 

  58. Boyd PA, Rounding C, Kurinczuk JJ. Third report of the congenital anomaly register for Oxfordshire, Berkshire and Buckinghamshire (CAROBB) births 2005–2010. Oxford: National Perinatal Epidemiology Unit; 2012.

    Google Scholar 

  59. Ahman A, Axelsson O, Maras G, Rubertsson C, Sarkadi A, Lindgren P. Ultrasonographic fetal soft markers in a low-risk population: prevalence, association with trisomies and invasive tests. Acta Obstet Gynecol Scand. 2014;93:367–73.

    Article  PubMed  Google Scholar 

  60. Boyd PA, Armstrong B, Dolk H, Botting B, Pattenden S, Abramsky L, et al. Congenital anomaly surveillance in England–ascertainment deficiencies in the national system. BMJ Clin Res Ed. 2005;330:27.

    Article  CAS  Google Scholar 

  61. Royal College of Obstetricians and Gynaecologists. Guideline no. 8: amniocentesis and cvs sampling. London: RCOG; 2005.

    Google Scholar 

  62. Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol. 2006;108:612–6.

    Article  PubMed  Google Scholar 

  63. Tabor A, Vestergaard CH, Lidegaard O. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol. 2009;34:19–24.

    Article  CAS  PubMed  Google Scholar 

  64. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D’Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45:16–26.

    Article  CAS  Google Scholar 

  65. Boyd PA, Keeling JW, Selinger M, Mackenzie IZ. Limb reduction and chorion villus sampling. Prenat Diagn. 1990;10:437–41.

    Article  CAS  PubMed  Google Scholar 

  66. Firth HV, Boyd PA, Chamberlain P, MacKenzie IZ, Lindenbaum RH, Huson SM. Severe limb abnormalities after chorion villus sampling at 56–66 days’ gestation. Lancet. 1991;337:762–3.

    Article  CAS  PubMed  Google Scholar 

  67. Firth H. Chorion villus sampling and limb deficiency–cause or coincidence? Prenat Diagn. 1997;17:1313–30.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  69. Brown N, Lumley J, Tickle C, Keene J. Congenital limb reduction defects—clues from developmental biology, teratology and epidemiology. London: HMSO Stationery Office; 1996.

    Google Scholar 

  70. Lamb MP. Gangrene of a fetal limb due to amniocentesis. Br J Obstet Gynaecol. 1975;82:829–30.

    Article  CAS  PubMed  Google Scholar 

  71. Rehder H. Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis). Pathol Res Pract. 1978;162:316–26.

    Article  CAS  PubMed  Google Scholar 

  72. Rushton DI. Examination of products of conception from previable human pregnancies. J Clin Pathol. 1981;34:819–35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  73. Swift PG, Driscoll IB, Vowles KD. Neonatal small-bowel obstruction associated with amniocentesis. Br Med J. 1979;1:720.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Therkelsen AJ, Rehder H. Intestinal atresia caused by second trimester amniocentesis. Case report. Br J Obstet Gynaecol. 1981;88:559–62.

    Article  CAS  PubMed  Google Scholar 

  75. Squier M, Chamberlain P, Zaiwalla Z, Anslow P, Oxbury J, Gould S, et al. Five cases of brain injury following amniocentesis in mid-term pregnancy. Dev Med Child Neurol. 2000;42:554–60.

    Article  CAS  PubMed  Google Scholar 

  76. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.

    Article  CAS  PubMed  Google Scholar 

  77. Swanson A, Sehnert AJ, Bhatt S. Non-invasive prenatal testing: technologies, clinical assays and implementation strategies for women’s healthcare practitioners. Curr Genet Med Rep. 2013;1:113–21.

    Article  PubMed  PubMed Central  Google Scholar 

  78. Brock DJ, Sutcliffe RG. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet. 1972;2:197–9.

    Article  CAS  PubMed  Google Scholar 

  79. Ferguson-Smith MA. The reduction of anencephalic and spina bifida births by maternal serum alphafetoprotein screening. Br Med Bull. 1983;39:365–72.

    Article  CAS  PubMed  Google Scholar 

  80. Hook EB. Chromosome abnormalities in older women by maternal age: evaluation of regression-derived rates in chorionic villus biopsy specimens. Am J Med Genet. 1990;35:184–7.

    Article  CAS  PubMed  Google Scholar 

  81. Norton ME. Follow-up of sonographically detected soft markers for fetal aneuploidy. Semin Perinatol. 2013;37:365–9.

    Article  PubMed  Google Scholar 

  82. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down’s syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). Health Technol Assess Winchester Engl. 2003;7:1–77.

    Article  CAS  Google Scholar 

  83. Chitty LS, Pandya PP. Ultrasound screening for fetal abnormalities in the first trimester. Prenat Diagn. 1997;17:1269–81.

    Article  CAS  PubMed  Google Scholar 

  84. Turan S, Turan OM, Desai A, Harman CR, Baschat AA. First-trimester fetal cardiac examination using spatiotemporal image correlation, tomographic ultrasound and color doppler imaging for the diagnosis of complex congenital heart disease in high-risk patients. Ultrasound Obstet Gynecology. 2014;44:562–7.

    Article  CAS  Google Scholar 

  85. Rossi AC, Prefumo F. Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature. Ultrasound Obstet Gynecology. 2014;44:388–93.

    Article  CAS  Google Scholar 

  86. Bebbington M, Victoria T, Danzer E, Moldenhauer J, Khalek N, Johnson M, et al. Comparison of ultrasound and magnetic resonance imaging parameters in predicting survival in isolated left-sided congenital diaphragmatic hernia. Ultrasound Obstet Gynecology. 2014;43:670–4.

    Article  CAS  Google Scholar 

  87. Gordijn SJ, Erwich JJ, Khong TY. Value of the perinatal autopsy: critique. Pediatr Dev Pathol. 2002;5:480–8.

    Article  PubMed  Google Scholar 

  88. Ramalho C, Matias A, Brandao O, Montenegro N. Critical evaluation of elective termination of pregnancy in a tertiary fetal medicine center during 43 months: correlation of prenatal diagnosis findings and postmortem examination. Prenat Diagn. 2006;26:1084–8.

    Article  PubMed  Google Scholar 

  89. Sankar VH, Phadke SR. Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings. J Perinatol. 2006;26:224–9.

    Article  CAS  PubMed  Google Scholar 

  90. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42:30–5.

    Article  CAS  PubMed  Google Scholar 

  91. Soothill PW, Rodeck CH. First-trimester fetal necropsy after ultrasound-guided aspiration. Lancet. 1994;343:1096–7.

    Article  CAS  PubMed  Google Scholar 

  92. Keeling JW, Hansen BF, Kjaer I. Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet. 1997;68:466–71.

    Article  CAS  PubMed  Google Scholar 

  93. Kjaer I, Keeling JW, Fischer HB. Pattern of malformations in the axial skeleton in human trisomy 13 fetuses. Am J Med Genet. 1997;70:421–6.

    Article  CAS  PubMed  Google Scholar 

  94. Kjaer I, Keeling JW, Hansen BF. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet. 1996;65:332–6.

    Article  CAS  PubMed  Google Scholar 

  95. Kjaer I, Keeling JW, Smith NM, Hansen BF. Pattern of malformations in the axial skeleton in human triploid fetuses. Am J Med Genet. 1997;72:216–21.

    Article  CAS  PubMed  Google Scholar 

  96. Thayyil S, Sebire NJ, Chitty LS, Wade A, Chong W, Olsen O, et al. Post-mortem mri versus conventional autopsy in fetuses and children: a prospective validation study. Lancet. 2013;382:223–33.

    Article  PubMed  Google Scholar 

  97. 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;16:149–53.

    Article  CAS  PubMed  Google Scholar 

  98. Hobbins JC, Grannum PA, Berkowitz RL, Silverman R, Mahoney MJ. Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol. 1979;134:331–45.

    Article  CAS  PubMed  Google Scholar 

  99. Beke A, Joó JG, Csaba A, Lázár L, Bán Z, Papp C, et al. Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Fetal Diagn Ther. 2009;25:83–92.

    Article  CAS  PubMed  Google Scholar 

  100. Bianchi DW, Prosen T, Platt LD, Goldberg JD, Abuhamad AZ, Rava RP, et al. Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma. Obstet Gynecol. 2013;121:1057–62.

    Article  CAS  PubMed  Google Scholar 

  101. Bakker M, Pajkrt E, Mathijssen IB, Bilardo CM. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn. 2011;31:833–40.

    CAS  PubMed  Google Scholar 

  102. von Kaisenberg CS, Wilting J, Dörk T, Nicolaides KH, Meinhold-Heerlein I, Hillemanns P, et al. Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and turner’s syndrome: comparison with trisomies and controls. Mol Hum Reprod. 2010;16:778–89.

    Article  CAS  Google Scholar 

  103. Giménez-Scherer JA, Davies BR, Reséndiz-Morán MA, Durán-Padilla MA. Abdominal wall defects: autopsy findings of distinct groups suggest different pathogenetic mechanisms. Pediatr Dev Pathol. 2009;12:22–7.

    Article  PubMed  Google Scholar 

  104. Stoll C, Alembik Y, Dott B, Roth MP. Omphalocele and gastroschisis and associated malformations. Am J Med Genet A. 2008;146A:1280–5.

    Article  PubMed  Google Scholar 

  105. Boyd PA, Bhattacharjee A, Gould S, Manning N, Chamberlain P. Outcome of prenatally diagnosed anterior abdominal wall defects. Arch Dis Child Fetal Neonatal Ed. 1998;78:F209–13.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  106. Corey KM, Hornik CP, Laughon MM, McHutchison K, Clark RH, Smith PB. Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele. Early Hum Dev. 2014;90:421–4.

    Article  PubMed  PubMed Central  Google Scholar 

  107. Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, et al. Gastroschisis and associated defects: an international study. Am J Med Genet A. 2007;143A:660–71.

    Article  PubMed  Google Scholar 

  108. Rapola J. Kidneys in Meckel’s syndrome as a model of abnormal renal differentiation. Int J Dev Biol. 1989;33:177–82.

    CAS  PubMed  Google Scholar 

  109. Keeling JW, Kjaer I. Cervical ribs: useful marker of monosomy x in fetal hydrops. Pediatr Dev Pathol. 1999;2:119–23.

    Article  CAS  PubMed  Google Scholar 

  110. Mittal TK, Vujanic GM, Morrissey BM, Jones A. Triploidy: antenatal sonographic features with post-mortem correlation. Prenat Diagn. 1998;18:1253–62.

    Article  CAS  PubMed  Google Scholar 

  111. Barros M, Gorgal G, Machado AP, Ramalho C, Matias A, Montenegro N. Revisiting amniotic band sequence: a wide spectrum of manifestations. Fetal Diagn Ther. 2014;35:51–6.

    Article  CAS  PubMed  Google Scholar 

  112. Ossipoff V, Hall BD. Etiologic factors in the amniotic band syndrome: a study of 24 patients. Birth Defects Orig Artic Ser. 1977;13:117–32.

    CAS  PubMed  Google Scholar 

  113. Rehder H, Weitzel H. Intrauterine amputations after amniocentesis. Lancet. 1978;1:382.

    Article  CAS  PubMed  Google Scholar 

  114. Donnai D, Winter RM. Disorganisation: a model for ‘early amnion rupture’? J Med Genet. 1989;26:421–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  115. Purandare SM, Ernst L, Medne L, Huff D, Zackai EH. Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases. Am J Med Genet A. 2009;149A:1740–8.

    Article  PubMed  Google Scholar 

  116. Keeling JW, Kjaer I. Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis. J Med Genet. 1994;31:823–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, SA, Australia

    Christopher Patrick Barnett MBBS, FRACP, FCCMG

Authors
  1. Christopher Patrick Barnett MBBS, FRACP, FCCMG
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Christopher Patrick Barnett MBBS, FRACP, FCCMG .

Editor information

Editors and Affiliations

  1. Department of Pathology Department of Obstetrics and Gynaecology, University of Adelaide, North Adelaide, South Australia, Australia

    T. Yee Khong

  2. Department of Histopathology, Women’s & Children’s Hospital, North Adelaide, South Australia, Australia

    T. Yee Khong

  3. Department of Histopathology, University Hospitals of Leicester NHS Trust Leicester Royal Infirmary, Leicester, UK

    Roger D. G. Malcomson

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing

About this chapter

Cite this chapter

Barnett, C.P. (2015). Congenital Abnormalities: Prenatal Diagnosis and Screening. In: Khong, T.Y., Malcomson, R.D.G. (eds) Keeling’s Fetal and Neonatal Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-19207-9_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-19207-9_8

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-19206-2

  • Online ISBN: 978-3-319-19207-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation