Document Detail

Noninvasive prenatal diagnosis of monogenic disorders.
MedLine Citation:
PMID:  22507053     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive prenatal diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional prenatal diagnosis.
AREAS COVERED: Efforts are mainly focused on finding the most accurate way to diagnose the most common fetal aneuploidies, paying special attention to trisomy 21. Recent advances in technology offer new diagnostic tools with high degrees of sensitivity thus generating great expectations for this type of diagnosis. However, there are other reasons why pregnant women undergo conventional prenatal diagnosis. Being at risk of transmitting a monogenic disorder is one of them. And although the percentage of those pregnancies may represent a small percentage of the diagnosis performed in the first trimester, these numbers should not be underestimated.
EXPERT OPINION: Management of pregnancies at risk of an X-linked Mendelian disorder has changed thanks to the noninvasive fetal sex assessment. As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders.
Marta Rodríguez de Alba; Ana Bustamante-Aragonés; Sara Perlado; María José Trujillo-Tiebas; Joaquín Díaz-Recasens; Javier Plaza-Arranz; Carmen Ramos
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2012-04-16
Journal Detail:
Title:  Expert opinion on biological therapy     Volume:  12 Suppl 1     ISSN:  1744-7682     ISO Abbreviation:  Expert Opin Biol Ther     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-24     Completed Date:  2012-11-07     Revised Date:  2013-11-06    
Medline Journal Info:
Nlm Unique ID:  101125414     Medline TA:  Expert Opin Biol Ther     Country:  England    
Other Details:
Languages:  eng     Pagination:  S171-9     Citation Subset:  IM    
Genetics Department, Fundacion JImenez Diaz, Avda. Reyes Católicos n°2, Madrid 28040, Spain.
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MeSH Terms
Decision Making
Genetic Diseases, Inborn / diagnosis*
Prenatal Diagnosis*

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