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Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening
Author(s) -
Curti Alessandra,
Lapucci Cristina,
Berto Silvia,
Prandstraller Daniela,
Perolo Antonella,
Rizzo Nicola,
Farina Antonio
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4853
Subject(s) - linear discriminant analysis , receiver operating characteristic , discriminant , gestation , fetus , biology , pregnancy , gene , medicine , andrology , genetics , bioinformatics , statistics , mathematics , artificial intelligence , computer science
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 (>75 th 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 >75 th 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.