Skip to main content
SpringerLink
Log in

Genetic Counseling and Prenatal Diagnosis

  • Chapter
Vogel and Motulsky's Human Genetics

Abstract

The expanding knowledge in human genetics has led to practical applications at an increasing rate — especially in genetic counseling and genetic screening. Conventional and invasive diagnostic procedures have been complemented or entirely replaced by genetic-testing. DNA tests allow us to predict diseases and to modify risk figures. With increasing numbers of both diagnostic and predictive genetic tests available, genetic counseling is becoming more important in virtually all fields of clinical practice. The traditional areas of genetic counseling included pediatrics (assessment of children with developmental delay and dysmorphic features) and obstetrics (prenatal diagnosis). However, as the genetic basis of more and more diseases is unraveled, genetic counseling is now increasingly requested from other disciplines, including neurology, oncology, ophthalmology.

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 229.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 299.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 449.99
Price excludes VAT (USA)
  • Durable hardcover 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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. American Academy of Pediatrics (2000) Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Diaorders. Pediatrics 106:358–361

    Article  Google Scholar 

  2. Baird PA, McGillivray B (1982) Children of incest. J Pediatr 101:854–857

    Article  CAS  PubMed  Google Scholar 

  3. Bekker HL, Hewison J, Thornton JG (2004) Applying decision analysis to facilitate informed decision making about prenatal diagnosis for Down syndrome: a randomized controlled trial. Prenat Diagn 24:265–275

    Article  PubMed  Google Scholar 

  4. Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F (2002) Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 22:609–615

    Article  CAS  PubMed  Google Scholar 

  5. Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rossella F, Ferrari M, Fraccaro M (1985) First-trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22:92–99

    Article  CAS  PubMed  Google Scholar 

  6. Brun JL, Gangbo F, Wen ZQ, Galant K, Taine L, Maugey-Laulom B, Roux D, Mangione R, Horovitz J, Saura R (2004) Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat Diagn 24:213–218

    Article  PubMed  Google Scholar 

  7. Bussani C, Cioni R, Scarselli B, Barciulli F, Bucciantini S, Simi P, Fogli A, Scarselli G (2002) Strategies for the isolation and detection of fetal cells in transcervical samples. Prenat Diagn 22:1098–1101

    Article  PubMed  Google Scholar 

  8. Capron AM, Lappe M, Murray RF, Powledge TM, Twiss SB, Bergsma D (eds) (1979) Genetic counseling: facts, values, and norms. Birth Defects 15(2):187–200

    Google Scholar 

  9. Caughey AB, Lyell DJ, Washington AE, Filly RA, Norton ME (2006) Ultrasound screening of fetuses at increased risk for Down syndrome: how many missed diagnoses? Prenat Diagn 26:22–27

    Article  PubMed  Google Scholar 

  10. Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 105:20458–20463

    Article  CAS  PubMed  Google Scholar 

  11. Crandall BF, Robertson RD, Lebherz TB, King W, Schroth PC (1983) Maternal serum alpha-fetoprotein screening for the detection of neural tube defects. West J Med 138:524–530

    CAS  PubMed  Google Scholar 

  12. Cuckle HS, Wald NJ, Lindenbaum RH (1984) Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet 1:926–929

    Article  CAS  PubMed  Google Scholar 

  13. Cystic Fibrosis Genotype—Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 329:1308–1313

    Article  Google Scholar 

  14. Daffos F, Capella-Pavlovsky M, Forestier F (1985) Fetal blood sampling during pregnancy with use of a needle guided by ultrasound: a study of 606 consecutive cases. Am J Obstet Gynecol 153:655–660

    CAS  PubMed  Google Scholar 

  15. de Costa CM (2002) Consanguineous marriage and its relevance to obstetric practice. Obstet Gynecol Surv 57:530–536

    Article  PubMed  Google Scholar 

  16. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835–847

    Google Scholar 

  17. Edwards JH (1956) Antenatal detection of hereditary disorders. Lancet 1:579

    Article  Google Scholar 

  18. El-Toukhy T, Khalaf Y, Braude P (2006) IVF results: optimize not maximize. Am J Obstet Gynecol 194:322–331

    Article  PubMed  Google Scholar 

  19. Emery AE (1973) Antenatal diagnosis of genetic disease. Williams & Wilkins, Baltimore, MD

    Google Scholar 

  20. Epstein CJ, Curry CJR, Packman S, Sherman S, Hall BD (eds) (1979) Risk, communication, and decision making in genetic counseling. Birth Defects 15(5C):335–367

    Google Scholar 

  21. Evers-Kiebooms G, van den Berghe H (1979) Impact of genetic counseling: a review of published follow-up studies. Clin Genet 15:465–474

    CAS  PubMed  Google Scholar 

  22. Ferguson-Smith MA (1983) Prenatal chromosome analysis and its impact on the birth incidence of chromosome disorders. Br Med Bull 39:355–364

    CAS  PubMed  Google Scholar 

  23. Ferguson-Smith MA, Yates JR (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report on a collaborative European study on 52965 amniocenteses. Prenatal Diag 4:5–44

    Article  PubMed  Google Scholar 

  24. Fisher B, Rose NC, Carey JC (2008) Principles and practice of teratology for the obstetrician. Clin Obstet Gynecol 51:106–118

    Article  PubMed  Google Scholar 

  25. Fletcher JC, Berg K, Tranøy KE (1985) Ethical aspects of medical genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening. Clin Genet 27:199–205

    CAS  PubMed  Google Scholar 

  26. Fuchs F, Riis P (1956) Antenatal sex determination. Nature 177:330

    Article  CAS  PubMed  Google Scholar 

  27. Fuhrmann W, Vogel F (1983) Genetic counseling, 3rd edn. Springer, Berlin Heidelberg science library 10

    Google Scholar 

  28. Fuhrmann W, Weitzel HK (1985) Maternal serum alpha-fetoprotein screening for neural tube defects. Report of a combined study in Germany and short overview on screening in populations with low birth prevalence of neural tube defects. Hum Genet 69:47–61

    Article  CAS  PubMed  Google Scholar 

  29. Grimm T, Muller B, Dreier M, Kind E, Bettecken T, Meng G, Muller CR (1989) Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. Am J Hum Genet 45:368–372

    CAS  PubMed  Google Scholar 

  30. Harper PS (2004) Practical genetic counseling, 6th edn. Arnold, London

    Google Scholar 

  31. Harper PS, Clarke AJ (1997) Genetics society and clinical practice. IOS Scientific Publishers, Oxford

    Google Scholar 

  32. Hassold T, Hall H, Hunt P (2007) The origin of human aneu-ploidy: where we have been, where we are going. Hum Mol Genet 16(2):R203–R208

    Article  CAS  PubMed  Google Scholar 

  33. Jancar J, Johnston SJ (1990) Incest and mental handicap. J Ment Defic Res 34:483–490

    PubMed  Google Scholar 

  34. Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M (1974) Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet 10:103–134

    CAS  PubMed  Google Scholar 

  35. Keller H, Emery AEH, Spiegler AWJ, Apacik C, Müller CR, Grimm T (1996) Age effects on serum creatune kinase (SCK) levels in obligate carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and its implication on genetic counseling. Acta Cardiomiologica 8:27–34

    Google Scholar 

  36. Kessler S (1980) The psychological paradigm shift in genetic counseling. Soc Bioi 27:167–185

    CAS  Google Scholar 

  37. Kozlowski P, Knippel A, Stressig R (2008) Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20,460 cases. Ultraschall Med 29:165–172

    Article  CAS  PubMed  Google Scholar 

  38. Lange IR (1985) Congenital anomalies: detection and strategies for management. Semin Perinatol 9:151–162

    CAS  PubMed  Google Scholar 

  39. Lemire R, Shepard T (2007) Catalog of teratogenic agents. Johns Hopkins University Press, Baltimore, MD

    Google Scholar 

  40. Lippman-Hand A, Fraser FC (1979) Genetic counseling -the postcounseling period. I. Parents' perceptions of uncertainty. Am J Med Genet 4:51–71

    Article  CAS  PubMed  Google Scholar 

  41. Lippman-Hand A, Fraser FC (1979) Genetic counseling -the postcounseling period. II. Making reproductive choices. Am J Med Genet 4:73–87

    Article  CAS  PubMed  Google Scholar 

  42. London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM (2001) In: Michael B, Robin M. Winter (eds.), Oxford Medical Database, 3rd edn. Oxford University Press, Oxford

    Google Scholar 

  43. McKusick VA (1998) Mendelian inheritance in man. A catalog of human genes and genetic disorders, 12th edn. Johns Hopkins University Press, Baltimore, MD

    Google Scholar 

  44. Modell B (1985) Chorionic villus sampling. Evaluating safety and efficacy. Lancet 1:737–740

    Article  CAS  PubMed  Google Scholar 

  45. Motulsky AG, Murray J (1983) Will prenatal diagnosis with selective abortion affect society's attitude toward the handicapped? In: Berg K, Tranoy KE (eds) Research ethics. Liss, New York, pp 277–291

    Google Scholar 

  46. Mujezinovic F, Alfirevic Z (2007) Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 110:687–694

    PubMed  Google Scholar 

  47. Murphy EA, Chase GA (1975) Principles of genetic counseling. Year Book Medical Publishers, Chicago

    Google Scholar 

  48. Nadler HL (1968) Antenatal detection of hereditary disorders. Pediatrics 42:912–918

    CAS  PubMed  Google Scholar 

  49. Nadler HL, Gerbie AB (1970) Role of amniocentesis in the intrauterine detection of genetic disorders. N Engl J Med 12:596–599

    Article  Google Scholar 

  50. Olson CK, Keppler-Noreuil KM, Romitti PA, Budelier WT, Ryan G, Sparks AE, Van Voorhis BJ (2005) In vitro fertilization is associated with an increase in major birth defects. Fertil Steril 84:1308–1315

    Article  PubMed  Google Scholar 

  51. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), World Wide Web URL: http:// www.ncbi.nlm.nih.gov/omim/

  52. POSSUM (2008) World Wide Web URL: http://www.pos-sum.net.au/index.htm

  53. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) Screening and counseling for genetic conditions. The ethical, social, and legal implications of genetic screening, counseling, and education program. US Government Printing Office, Washington, DC

    Google Scholar 

  54. Purwosunu Y, Sekizawa A, Koide K, Okazaki S, Farina A, Okai T (2006) Clinical potential for noninvasive prenatal diagnosis through detection of fetal cells in maternal blood. Taiwan J Obstet Gynecol 45:10–20

    Article  PubMed  Google Scholar 

  55. Resta RG (2006) Defining and redefining the scope and goals of genetic counseling. Am J Med Genet C Semin Med Genet 142:269–275

    Google Scholar 

  56. Ried T, Mahler V, Petal V (1990) Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum Genet 85:581–586

    Article  CAS  PubMed  Google Scholar 

  57. Schwartz M, Duno M (2004) Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 8:361–367

    Article  CAS  PubMed  Google Scholar 

  58. Seemanova E (1971) A study of children of incestuous mat-ings. Hum Hered 21:108–128

    Article  CAS  PubMed  Google Scholar 

  59. Simoni G, Brambati B, Danesino C, Terzoli GL, Romitti L, Rossella F, Fraccaro M (1984) Diagnostic application of first-trimester trophoblast sampling in 100 pregnancies. Hum Genet 66:252–259

    Article  CAS  PubMed  Google Scholar 

  60. Snijders RJ (1996) Isolated choroid plexus cysts: should we offer karyotyping? Ultrasound Obstet Gynecol 8:223–224

    Article  CAS  PubMed  Google Scholar 

  61. Sorenson JR, Swazey JP, Scotch NA (eds) (1981) Reproductive pasts reproductive futures. Genetic counseling and its effectiveness. Birth Defects 17(4):131–144

    Google Scholar 

  62. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH (1999) A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 13:231–377

    Article  CAS  PubMed  Google Scholar 

  63. Steele MW, Breg WR Jr (1966) Chromosome analysis of human amniotic-fluid cells. Lancet I:383–385

    Article  Google Scholar 

  64. Stengel-Rudkowski S, Stene J, Gallano P (1988) Risk estimates in balanced parental reciprocal translocations. Analysis of 1120 pedigrees. Monographie des Annales de Génétique, Paris

    Google Scholar 

  65. Tibben A (2007) Predictive testing for Huntington's disease. Brain Res Bull 72:165–171

    Article  PubMed  Google Scholar 

  66. Vogelstein B, Kinzler KW (2002) The genetic basis of human cancer, 2nd edn. McGraw-Hill, New York

    Google Scholar 

  67. Wald NJ, Watt HC, Hackshaw AK (1999) Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 341:461–467

    Article  CAS  PubMed  Google Scholar 

  68. Wald NJ, Bestwick JP, Huttly WJ, Morris JK, George LM (2006) Validation plots in antenatal screening for Down's syndrome. J Med Screen 13:166–171

    CAS  PubMed  Google Scholar 

  69. Walknowska J, Conte FA, Grumbach MM (1969) Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet I:1119–1122

    Article  Google Scholar 

  70. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT (2006) Duplications in the DMD gene. Hum Mutat 27:938–945

    Article  CAS  PubMed  Google Scholar 

  71. Yang Q, Wen SW, Leader A, Chen XK, Lipson J, Walker M (2007) Paternal age and birth defects: how strong is the association? Hum Reprod 22:696–701

    Article  CAS  PubMed  Google Scholar 

  72. Young I (2007) Introduction to risk calculation in genetic counselling, 3rd edn. Oxford University Press, Oxford

    Google Scholar 

  73. Zimmermann BG, Maddocks DG, Avent ND (2008) Quantification of circulatory fetal DNA in the plasma of pregnant women. Methods Mol Biol 444:219–229

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. University of Würzburg, Biozentrum Am Hublandtitute of Human Genetics, Division of Medical Genetics, Würzburg, 97074, Germany

    Tiemo Grimm

  2. Institute of Human Genetics, Medical Faculty, RWTH University Pauwelsstr. 30, Aachen, 52074, Germany

    Klaus Zerres

Authors
  1. Tiemo Grimm
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Klaus Zerres
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz, 8010, Austria

    Michael R. Speicher

  2. Departments of Medicine (Division of Medical Genetics) and Genome Sciences, University of Washington School of Medicine, 1705 N.E. Pacific St., 355065, Seattle, WA, 98195-5065, USA

    Arno G. Motulsky (Professor Emeritus) (Professor Emeritus)

  3. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Grimm, T., Zerres, K. (2010). Genetic Counseling and Prenatal Diagnosis. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_39

Download citation

Publish with us

Policies and ethics

Search

Navigation