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

Diego Arcelli, Antonio Farina, Claudia Cappuzzello, Antonella Bresin, Paola De Sanctis, Antonella Perolo, Daniela Prandstraller, Davide Valentini, Cinzia Zucchini, Silvia Priori, Nicola Rizzo

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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%.

Original languageEnglish
Pages (from-to)229-234
Number of pages6
JournalPrenatal Diagnosis
Volume30
Issue number3
DOIs
Publication statusPublished - Mar 2010

Fingerprint

Stored Messenger RNA
Fetal Heart
Second Pregnancy Trimester
Heart Diseases
Fetus
Pregnancy
Genes
Mothers
Prolyl Hydroxylases
Actinin
Tenascin
Procollagen
Messenger RNA
Thioredoxins
Collagen Type I
Morphogenesis
Extracellular Matrix
Actins
Blood Proteins
Proteins

Keywords

  • Congenital heart diseases
  • Microarrays
  • Molecular screening
  • Placental mRNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

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. / Arcelli, Diego; Farina, Antonio; Cappuzzello, Claudia; Bresin, Antonella; De Sanctis, Paola; Perolo, Antonella; Prandstraller, Daniela; Valentini, Davide; Zucchini, Cinzia; Priori, Silvia; Rizzo, Nicola.

In: Prenatal Diagnosis, Vol. 30, No. 3, 03.2010, p. 229-234.

Research output: Contribution to journalArticle

Arcelli, Diego ; Farina, Antonio ; Cappuzzello, Claudia ; Bresin, Antonella ; De Sanctis, Paola ; Perolo, Antonella ; Prandstraller, Daniela ; Valentini, Davide ; Zucchini, Cinzia ; Priori, Silvia ; Rizzo, Nicola. / 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. In: Prenatal Diagnosis. 2010 ; Vol. 30, No. 3. pp. 229-234.
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abstract = "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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