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