Document Detail

Identification of circulating placental mRNA in maternal blood of pregnancies affected with fetal congenital heart diseases at the second trimester of pregnancy: implications for early molecular screening.
MedLine Citation:
PMID:  20063376     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To investigate whether a significantly aberrant expression of circulating placental mRNA genes related with cardiogenesis can be detected at the second trimester of pregnancy. METHODS: The study was performed in two stages. First stage (development model group): match of 14 placental tissues at delivery of fetuses with congenital heart disease versus 20 controls. Second stage (validation model group): mRNA amplification of abnormal expressed genes in maternal blood samples from 26 women bearing a fetus with a congenital heart disease matched with 28 controls. RESULTS: We identified four functional categories of genes possibly involved in abnormal heart development: cardiac morphogenesis: tenascin, thioredoxin, salvador homolog 1 protein; extracellular matrix (ECM) and valvular tissue biosynthesis; placental-associated plasma protein, collagen, type I, alpha 2, fibulin-1, heparanase, procollagen-proline, 2-oxoglutarate 4-dioxygenase, alpha polypeptide II, Jumonji, AT rich interactive domain 1B RBP2-like; normal contractile activity: actinin, alpha 4, fascin homolog 1, actin-bundling protein; and congestive heart failure. CONCLUSION: Altered placental genetic expression was found at term delivery in affected fetuses. The aberration was also confirmed in maternal blood at the second trimester of women bearing a fetus with congenital heart disease. Sensitivity for the most aberrant genes ranged between 42% and 95% at a false positive rate (FPR) of 10%.
Diego Arcelli; Antonio Farina; Claudia Cappuzzello; Antonella Bresin; Paola De Sanctis; Antonella Perolo; Daniela Prandstraller; Davide Valentini; Cinzia Zucchini; Silvia Priori; Nicola Rizzo
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-01     Completed Date:  2010-06-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  229-34     Citation Subset:  IM    
Molecular Oncology Lab, Functional Genomics & Bioinformatics unit, Dermopathic Institute of the Immacolata -(IDI) IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.
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MeSH Terms
Biological Markers / blood
Fetal Diseases / blood*,  genetics
Gene Expression Profiling
Genetic Testing / methods*
Heart Defects, Congenital / blood*,  genetics
Maternal-Fetal Exchange
Molecular Diagnostic Techniques / methods*
Oligonucleotide Array Sequence Analysis
Placenta / chemistry,  metabolism*
Predictive Value of Tests
Pregnancy Trimester, Second / blood
RNA, Messenger / blood*
Retrospective Studies
Reg. No./Substance:
0/Biological Markers; 0/RNA, Messenger

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