| 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. | |
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MedLine Citation:
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PMID: 20063376 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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%. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-06-08 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: 229-34 Citation Subset: IM |
Affiliation:
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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 | |
Descriptor/Qualifier:
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Biological Markers
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blood Female Fetal Diseases / blood*, genetics Gene Expression Profiling Genetic Testing / methods* Heart Defects, Congenital / blood*, genetics Humans Maternal-Fetal Exchange Molecular Diagnostic Techniques / methods* Oligonucleotide Array Sequence Analysis Placenta / chemistry, metabolism* Predictive Value of Tests Pregnancy Pregnancy Trimester, Second / blood RNA, Messenger / blood* Retrospective Studies |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/RNA, Messenger |
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