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Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening
Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening
- Publication Year :
- 2016
-
Abstract
- Objective: To verify the hypothesis that aberrant placental mRNA genes related to cardiogenesis can be detected in maternal plasma at the second trimester of pregnancy. Methods: NanoString technology was used to identify aberrant genes, comparing 39 women carrying a fetus with a congenital heart defect (CHD) to 31 controls at 19–24 weeks of gestation. The genes with differential expression were subsequently tested using real time polymerase chain reaction. Linear discriminant analysis (LDA) was used to combine all the mRNA species with discriminant ability for CHD. A multivariable receiver operating characteristic (ROC) curve having the estimated discriminant score as an explanatory variable was generated. Results: Six genes with differential expression, namely FALZ, PAPP-A, PRKACB, SAV1, STK4 and TNXB2, were found. The ROC curve yielded a detection rate of 66.7% at a false positive rate of 10%. A higher discriminant score (>75th centile) was reached for 14 CHD cases (82.4%) and only 1 control (5.8%). Two cases (11.8%) of heart rhythm disorders also yielded a discriminant score value >75th centile. Conclusion: These data represent a step forward in the screening of CHDs. Additional studies are needed to detect more mRNAs with discriminant ability and to move the first trimester screening.
- Subjects :
- Heart Defects, Congenital
Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
Intracellular Signaling Peptides and Proteins
Discriminant Analysis
Obstetrics and Gynecology
Antigens, Nuclear
Cell Cycle Proteins
Nerve Tissue Proteins
Tenascin
Protein Serine-Threonine Kinases
Real-Time Polymerase Chain Reaction
ROC Curve
Pregnancy
Case-Control Studies
Pregnancy Trimester, Second
Prenatal Diagnosis
Multivariate Analysis
Linear Models
Humans
Pregnancy-Associated Plasma Protein-A
Female
RNA, Messenger
Genetics (clinical)
Retrospective Studies
Transcription Factors
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.pmid.dedup....bcd1b754d6dfedd8183c795dea192bf6