Test performing procedure
During pregnancy, some fetal DNA fragments circulate in
maternal blood. Fetal DNA consists of short
DNA fragments (~145/200 bp) present in plasma in variable percentages depending
on the gestational period and deriving from placental trophoblasts.
Through a complex laboratory analysis, the fetal DNA is isolated from maternal
blood in order to identify potential chromosomal aneuploidies.
PrenatalSAFE® test analyzes circulating fetal DNA in maternal blood using Next
Generation Sequencing (NGS) technologies and advanced bioinformatic analysis.
The fetal DNA is amplified by PCR and subsequently, through an advanced
technological process, the chromosomal sequences of the circulating fetal DNA
are sequenced at a high read depth (~30 million sequences), thanks to the
innovative technology of massive parallel sequencing (MPS) of the
genome, using Next Generation Sequencing (NGS) ILLUMINA sequencer.
Chromosomal sequences are then quantified through an advanced bioinfofmatic
analysis to detect the presence of potential fetal chromosomal aneuploidies,
identified by supernumerary sequences that can be aligned to a specific
GENOMA in partnership with ILLUMINA, leading multinational
company in the Next Generation Sequencing (NGS), offers one of the most
advanced non-invasive prenatal analysis protocols available today in Europe.