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.

Curti, A., Lapucci, C., Berto, S., Prandstraller, D., Perolo, A., Rizzo, N., et al. (2016). Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening. PRENATAL DIAGNOSIS, 36(8), 738-743 [10.1002/pd.4853].

Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening

CURTI, ALESSANDRA;PRANDSTRALLER, DANIELA;RIZZO, NICOLA;FARINA, ANTONIO
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.
2016
Curti, A., Lapucci, C., Berto, S., Prandstraller, D., Perolo, A., Rizzo, N., et al. (2016). Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening. PRENATAL DIAGNOSIS, 36(8), 738-743 [10.1002/pd.4853].
Curti, Alessandra; Lapucci, Cristina; Berto, Silvia; Prandstraller, Daniela; Perolo, Antonella; Rizzo, Nicola; Farina, Antonio
File in questo prodotto:
Eventuali allegati, non sono esposti

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/588509
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 14
  • ???jsp.display-item.citation.isi??? 15
social impact