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.

tip idi test

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 entire human genome, using Next Generation Sequencing (NGS) ILLUMINA sequencer.

Next Generation Sequencing (NGS)

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 chromosome.

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.

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