In addition to massively parallel sequencing, massively parallel and digital sequencing is born today
Altamedica – Leading from 40 years in Prenatal Diagnosis and Center of Excellence in Italy – has developed the most advanced and modern technology at its genetics laboratories in order to overcome the limitations of the classical NIPT performed with conventional methodologies by developing, first, a next generation combined technological platform of the genetic sequencing.
The INIPT™ methodology involves the synergistic use of massively DNA sequencing technologies (Next Generation Sequencing) and Digital PCR (Polymerase Chain Reaction).
While the tried and tested method of massively parallel sequencing allows the analysis of the entire genome, Digital PCR represents the possibility of investigating mutations and genetic anomalies with a sensitivity and reliability never before achieved.
The genetic research team has perfected a combined diagnostic platform of the two methods that, thanks also to the introduction of a new bioinformatics-owned analysis (Release 2017), allows to provide maximum reliability in analytical results.
SUPERIORITY OF INIPT ™ COMPARED TO TRADITIONAL NIPT
It should be noted that, beyond the excessive percentages of success declared by the traditional NIPT tests on the market for years, only through the control by Amniocentesis/ CVS Test it is possible to establish their real validity.
During the period from September 2014 to September 2017 in the Altamedica Center of Rome, 15.173 invasive prenatal procedures were performed between amniocentesis and villocentesis.
NIPT refers to an error in a chromosomal or subchromosomal anomaly or to the detection of a chromosomal or genetic abnormality even if the NIPT test was negative for chromosomal pathology.
From this preclinical study it emerged that:
In the first group are reported 197 women with a positive NIPT test who underwent a prenatal invasive examination (amniocentesis or villocentesis) to confirm the diagnosis (TAB 1).
In the second group are the 188 pregnancies that examined an invasive prenatal diagnosis after a negative NIPT test but in which there was an ultrasound suspicion of fetal chromosomal pathology (TAB 2).
The INIPT ™ allows you to overcome the diagnostic limits of other tests available for several years.
* Ultrasound Obstet Gynecol. 2017 Jun; 49(6):815-816. doi: 10.1002/uog.17483. ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice. Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, Raine-Fenning N; ISUOG Clinical Standards Committee.
The false negatives range from 5% to 10%, the dPCR reduces to zero the false negative rate for fetal anomalies of chromosome 18 and 21.
The FetalDNA | test was performed preclinically iNIPT ™ technology to validate accuracy compared to traditional NIPT.
In addition, the Total Screen FetalDNA represents today the test with greater diagnostic potential to date than all other NIPT tests. In fact it includes:
- Screening of anomalies in the number of chromosomes
- The widest microdeletion and microduplication screening available today
- An accurate screening of the most frequent monogenic disorders (eg cystic fibrosis and many others)
- Very recent screening of genetic mutations held to be responsible for preterm birth
- Maternal cystic fibrosis
- Diagnosis of maternal spinal muscular atrophy.
- The presence of the most important infectious agents in the maternal blood to discover infections in place through the research in fetal biology of their genome.
- Maternal hereditary thrombophilia.
- Biochemical markers for the prediction of preeclampsia
For further informations visit www.fetaldnatotalscreen.it