• Due to scheduled maintenance access to the Wiley Online Library may be disrupted as follows: Monday, 6 September - New York 0400 EDT to 0500 EDT; London 0900 BST to 1000 BST; Singapore 1600 to 1700

Review of Current Practice

Molecular prenatal diagnosis: the impact of modern technologies

  1. F. Lucy Raymond1,
  2. Joanne Whittaker2,
  3. Lucy Jenkins3,
  4. Nick Lench3,
  5. Lyn S. Chitty4,5,*

Article first published online: 22 JUN 2010

DOI: 10.1002/pd.2575

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Special Issue: 30th Anniversary Issue of Prenatal Diagnosis

Volume 30, Issue 7, pages 674–681, July 2010

Additional Information

How to Cite

Lucy Raymond, F., Whittaker, J., Jenkins, L., Lench, N. and Chitty, L. S. (2010), Molecular prenatal diagnosis: the impact of modern technologies. Prenatal Diagnosis, 30: 674–681. doi: 10.1002/pd.2575

Author Information

  1. 1

    Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, UK

  2. 2

    East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK

  3. 3

    North East Thames Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children, London, UK

  4. 4

    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

  5. 5

    University College London NHS Foundation Trust, London, UK

*Correspondence: Lyn S. Chitty, Clinical Molecular Genetics Unit, UCL Institute of Child Health, 30, Guilford Street, London WC1N 1EH, UK.

Publication History

  1. Issue published online: 22 JUN 2010
  2. Article first published online: 22 JUN 2010
  3. Manuscript Accepted: 19 MAY 2010
  4. Manuscript Revised: 16 MAY 2010
  5. Manuscript Received: 8 MAY 2010

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (163K)

Keywords:

  • prenatal diagnosis;
  • molecular genetics;
  • free fetal DNA

Abstract

Originally prenatal diagnosis was confined to the diagnosis of metabolic disorders and depended on assaying enzyme levels in amniotic fluid. With the development of recombinant DNA technology, molecular diagnosis became possible for some genetic conditions late in the 1970s. Here we briefly review the history of molecular prenatal diagnostic testing, using Duchenne muscular dystrophy as an example, and describe how over the last 30 years we have moved from offering testing to a few affected individuals using techniques, such as Southern blotting to identify deletions, to more rapid and accurate PCR-based testing which identifies the precise change in dystrophin for a greater number of families. We discuss the potential for safer, earlier prenatal genetic diagnosis using cell free fetal DNA in maternal blood before concluding by speculating on how more recent techniques, such as next generation sequencing, might further impact on the potential for molecular prenatal testing. Progress is not without its challenges, and as cytogenetics and molecular genetics begin to unite into one, we foresee the main challenge will not be in identifying the genetic change, but rather in interpreting its significance, particularly in the prenatal setting where we frequently have no phenotype on which to base interpretation. Copyright © 2010 John Wiley & Sons, Ltd.

View Full Article (HTML) Get PDF (163K)