Linked Life Data

20447485

Source:http://linkedlifedata.com/resource/pubmed/id/20447485

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-5-7
pubmed:abstractText
One of the most significant benefits of translational research in dermatology has been the development of prenatal diagnosis for couples at risk of recurrence of severe inherited skin diseases. Indeed, over the last 30 years a greater understanding of the molecular basis of epidermolysis bullosa (EB), as well as technical refinements in laboratory procedures, has facilitated the development of several different approaches for prenatal diagnosis. Initial tests were based on fetal skin biopsy sampling, but these have largely been superseded by DNA based analyses, mostly using fetal DNA derived from chorionic villus sampling taken at around 10--12 weeks' gestation. Further advances, however, have led to the introduction of licensed preimplantation genetic screening for some forms of EB, an approach that defines a disease-associated genotype before implantation into the uterus. Pioneering research also continues to try to develop less invasive approaches with the prospects of maternal blood sampling early during the first trimester as a feasible objective. The availability of several different options for prenatal diagnostic testing therefore has led to an increased choice for families at risk of recurrence of EB.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1558-0520
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
231-7, viii
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Prenatal diagnosis of epidermolysis bullosa.
pubmed:affiliation
Division of Genetics and Molecular Medicine, King's College London (Guy's Campus), St John's Institute of Dermatology Research Laboratories, Guy's Hospital, London, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't