title: Elevated hsa-miR-99a levels in maternal plasma may indicate congenital heart defects.
abstract: The current standard for prenatal screening is mostly based on biochemical marker tests and the use of ultrasonography. There is no secure stand-alone screening marker for congenital heart defects (CHDs). MicroRNAs (miRNAs) that are associated with cardiogenesis enter the maternal peripheral bloodstream during pregnancy and allow non-invasive prenatal testing (NIPT). The present study investigated the plasma expression profile of fetal hsa-miR-99a in maternal blood. Peripheral blood samples were collected from 39 pregnant patients, comprising 22 with CHD-positive fetuses and 17 with CHD-free controls. miRNAs were isolated from the maternal serum and reverse transcription-quantitative polymerase chain reaction was carried out to determine the expression of hsa-miR-99a. While the miRNA concentrations were almost identical among the affected and control groups (5.54 vs. 6.40 ng/µl), significantly upregulated hsa-miR-99a levels were identified in the affected group (1.78×10-2±3.53×10-2vs. 1.09×10-3±3.55×10-3ng/µl, P=0.038). In conclusion, according to the present study, hsa-miR-99a is involved in cardiac malformation and may serve as a biomarker during fetal development, and therefore presents as a candidate for monitoring cardiomyogenesis and potential use as a NIPT-biomarker for fetal CHD.
authors.affiliation: First Department of Obstetrics and Gynecology, Semmelweis University Budapest, H-1088 Budapest, Hungary.
authors.forename: Lars
authors.initials: L
authors.lastname: Kehler
authors.affiliation: First Department of Obstetrics and Gynecology, Semmelweis University Budapest, H-1088 Budapest, Hungary.
authors.forename: Orsolya
authors.initials: O
authors.lastname: Biro
authors.affiliation: First Department of Obstetrics and Gynecology, Semmelweis University Budapest, H-1088 Budapest, Hungary.
authors.forename: Levente
authors.initials: L
authors.lastname: Lazar
authors.affiliation: First Department of Obstetrics and Gynecology, Semmelweis University Budapest, H-1088 Budapest, Hungary.
authors.forename: Janos
authors.initials: J
authors.lastname: Rigo
authors.affiliation: First Department of Obstetrics and Gynecology, Semmelweis University Budapest, H-1088 Budapest, Hungary.
authors.forename: Balint
authors.initials: B
authors.lastname: Nagy
keywords: congenital heart defects; fetal diagnosis; microRNA; non-invasive prenatal diagnosis