Document Detail

Molecular prenatal diagnosis: the impact of modern technologies.
MedLine Citation:
PMID:  20572117     Owner:  NLM     Status:  MEDLINE    
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.
F Lucy Raymond; Joanne Whittaker; Lucy Jenkins; Nick Lench; Lyn S Chitty
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-28     Completed Date:  2010-10-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  674-81     Citation Subset:  IM    
Copyright Information:
(c) 2010 John Wiley & Sons, Ltd.
Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, UK.
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MeSH Terms
Blotting, Southern
DNA / chemistry,  genetics
Dystrophin / genetics*
Muscular Dystrophy, Duchenne / diagnosis*,  genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Prenatal Diagnosis / methods*
Reg. No./Substance:
0/Dystrophin; 9007-49-2/DNA

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