
Maternal plasma contains cell-free DNA from both mother and fetus. Next Generation Sequencing (NGS) of maternal plasma cell-free DNA allows fast and safe non-invasive prenatal testing (NIPT) for the screening of fetal aneuploidies: trisomy and monosomy. It is also possible to detect small copy number abnormalities (CNAs) like sub-chromosomal deletions or duplications and to determine the fetal sex.
The detection of fetal aneuploidies is based on a combination of high quality alignments against
the human genome and read counts to identify chromosomal gain or loss. Different normalization
are performed based on sequenced reads GC percentage to calculate high-quality z-scores.
The presence of a fetal aneuploidy is assessed by the value of three z-score calculations and
some quality criterion computed for each samples: reads GC content, reads quality and number...
The detection of small CNAs depends on a count analysis. Chromosomes are cut into bins and reads are counted. A z-score is computed to compare all chromosome bins representation. During z-score computation a normalization based on bins' reads GC percentage is performed. Finally, in order to eliminate the background noise, a deconvolution step is added to improve the detection of small CNA.
The fetal fraction of plasma sample is of critical value for interpreting NIPT results. According to the sequencing method, the fetal fraction can be estimated by our solution. Our tool is also able to use an external fetal fraction estimation based on other experimental methods.
Prena LifePipe® can be associated with different Life and Soft solutions to improve the diagnostic experience.
You can analyze your sequencing results obtained by different sequencing technologies and platforms to detect karyotypic abnormalities and assess their fetal or maternal origins.
Our developments follow a strict quality process in accordance with ISO 62304 recommendations. The target date for CE marking is 2019.
Prena LifePipe® makes use of Docker® technology to allow quick and easy deployment onto your IT infrastructure.
Our bioinformatics pipeline can be easily integrated with other tools to improve the analysis experience. For example, Micro LifePipe® can detects DNA viruses circulating in maternal plasma that would be important for a fetus’ development.
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