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Molecular Prenatal Diagnostic Testing

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Modern Clinical Molecular Techniques

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Abstract

Prenatal molecular diagnostic testing can be performed for most of the hereditary single gene disorders for which postnatal testing is clinically available. Special measures need to be implemented by the laboratory to assure the integrity of the results of fetal DNA analyses including fetal DNA extraction and detection of maternal cell contamination.

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References

  1. ACMG Standards and Guidelines for Clinical Genetics Laboratories. Clinical Molecular Genetics. Section G18. 2008 Edition. http://www.acmg.net/AM/Template.cfm?Section=Laboratory_Standards_and_Guidelines&Template=/CM/HTMLDisplay.cfm&ContentID=6777.

  2. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol. 2007;110(3):687–94.

    Article  PubMed  Google Scholar 

  3. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62(4):768–75.

    Article  PubMed  CAS  Google Scholar 

  4. van der Schoot CE, Hahn S, Chitty LS. Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med. 2008;13(2):63–8.

    Article  PubMed  Google Scholar 

  5. Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet. 2011;80(1):68–75.

    Article  PubMed  CAS  Google Scholar 

  6. Schrijver I, Cherny SC, Zehnder JL. Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn. 2007;9(3):394–400.

    Article  PubMed  Google Scholar 

  7. Collins PJ, Hennessy LK, Leibelt CS, Roby RK, Reeder DJ, Foxall PA. Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit. J Forensic Sci. 2004;49(6):1265–77.

    Article  PubMed  CAS  Google Scholar 

  8. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991;49(5):951–60.

    PubMed  CAS  Google Scholar 

  9. Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3′ untranslated region of dystrophin. Nucleic Acids Res. 1990;18(7):1931.

    Article  PubMed  CAS  Google Scholar 

  10. Feener CA, Boyce FM, Kunkel LM. Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. Am J Hum Genet. 1991;48(3):621–7.

    PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. DNA Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza – NAB 2015, Houston, TX, 77030, USA

    Joanna Wiszniewska M.D. & Christine M. Eng M.D.

Authors
  1. Joanna Wiszniewska M.D.
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  2. Christine M. Eng M.D.
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Corresponding author

Correspondence to Joanna Wiszniewska M.D. .

Editor information

Editors and Affiliations

  1. , Molecular Genetic Technology Program, M.D. Anderson Cancer Center, 1515 Holcombe Blvd. Unit 2, Houston, 77030, Texas, USA

    Peter Hu

  2. , Department of Human Genetics, Emory University School of Medicine, 615 Michael St. NE, Suite 315, Atlanta, 30322, Georgia, USA

    Madhuri Hegde

  3. , Molecular Genetic Technology Program, M. D. Anderson Cancer Center, 1515 Holcombe Blvd., Unit 2, Houston, 77030, Texas, USA

    Patrick Alan Lennon

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© 2012 Springer Science+Business Media, LLC

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Wiszniewska, J., Eng, C.M. (2012). Molecular Prenatal Diagnostic Testing. In: Hu, P., Hegde, M., Lennon, P. (eds) Modern Clinical Molecular Techniques. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-2170-2_23

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  • DOI: https://doi.org/10.1007/978-1-4614-2170-2_23

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-2169-6

  • Online ISBN: 978-1-4614-2170-2

  • eBook Packages: MedicineMedicine (R0)

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