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The technology behind the analysis carried out by FetalDNA is recognized by the scientific community as the most advanced in the world. It is in fact in the case of the FetalDNA of the most recent methodology that has succeeded in exploiting the experience of the tests already present in the market, overcoming the limits.

The methodology developed, called INIPT ™, represents the latest goal of the genetic research that exploits the synergic application of the next generation genomic sequencing methods.

Through complex laboratory procedures our team carries out the isolation of the fetal DNA from the maternal component and performs the processing of the sample by massive sequencing of the last generation of the entire human genome and applying the Combination of platforms for Next Generation Sequencing and Digital PCR. At the end of the analytical phase a sophisticated bioinformatics analysis allows the achievement of the result.

Altamedica is directed by Prof. Claudio Giorlandino, European Professional Excellency in Obstetric and Gynaecology, one of the recognized leaders in prenatal diagnosis.


FetalDNA is a non-invasive test that does not subject to any kind of risk the mother and fetus. It is currently the most comprehensive screening examination for the study of chromosomal aneuploidies affecting the fetus.


A simple blood collection of the pregnant woman is sufficient for the execution of  FetalDNA Basic, Basic Plus FetalDNA, Karyotype FetalDNA and Karyotype Plus, Total Screen FetalDNA.

During pregnancy, some fragments of fetal DNA circulate in maternal blood with a concentration that increases during pregnancy and then decreases after childbirth. An optimum level to proceed with the execution of the FetalDNA is achieved after 10 weeks of gestation. At this time, from our clinical validation studies, it is possible to obtain a very high specificity and sensitivity of the examination.


Thanks to our cutting-edge technology we are able to guarantee response times within 5 working days for all types of exams.

  • Reception of blood samples
  • Circulating free Fetal DNA isolation
  • Multiple DNA analysis using synergic methodologies
  • Bioinformatics Analysis (Release 2017)
  • Analytical result


The test showed, in pre-clinical validation studies, an approach to 100% in the detection of trisomy 21, trisomy 18 and Trisomy 13, and 95% in detecting monosomy X, with false positive percentages  < 0.1%.

In particular, Karyotype FetalDNA shows more than 99% of the fetal chromosomal aneuploidies found at birth reaching a level of detection rate that, thanks to new technologies of the next generation, approaches, more than others now in Trade for years, to prenatal invasive diagnosis tests such as amniocentesis and CVS Test.

Even more complete is the Karyotype Plus FetalDNA, which adds in addition to the study of the karyotype also a very high number of small chromosome rearrangements that no test is able to detect. In this sense, Karyotype Plus FetalDNA represents the most thorough and complete examination in the world for the study of fetal genetic conditions.

Please note that, like all FetalDNA analysis tests circulating on maternal blood, FetalDNA is also a screening test.

But be warned, FetalDNA is the best existing screening test since it is the most recent, sophisticated and elaborate examination of the DNA fragments in maternal blood. The only one that uses for the analysis integrated platforms and a bioinformatics analysis of the next generation able even to detect a very high number of micro chromosome alterations.


All test levels return clear and easily understandable results.

“POSITIVE” result – Genetic anomaly detected (High Risk)

 Indicates that the test produced a result compatible with a fetal chromosomal aneuploidy or with a microdeletion between those studied in the test. The reliability of the result is shown in the “Results” section of the report and in the “Test accuracy” section of the technical report. This result indicates that the fetus has one of the pathological conditions indicated in the limits of reliability of the test which, as established by the ministerial rules, will then have to be confirmed by an invasive diagnostic test. The recommended follow-up is an invasive prenatal diagnosis test – Amniocentesis or CVS Test – which will be carried out in a totally free form (sampling and analysis) at our internationally renowned Centre. The geneticist, in the genetic counseling, will explain in detail the result of the test and will advise to confirm the result by prenatal invasive diagnosis. In no way can you appeal to the Law 194/78 on the voluntary termination of pregnancy without first confirming the result of the test by amniocentesis or CVS Test.

“NEGATIVE” result – Genetic anomaly not detected (Low Risk)

Indicates that the test did not detect a result compatible with a fetal chromosomal aneuploidy or with a microdeletion between those studied in the test. The reliability of the result is shown in the “Results” section of the report and in the “Test accuracy” section of the technical report.

This result indicates that the fetus does not present aneuploidies at the level of the investigated chromosomes, but does not ensure that the fetus is healthy for such anomalies.


Although most of these commercial tests do not produce an optimal result when the circulating free fetal DNA concentration is less than 4%, with FetalDNA this limit is generally largely exceeded thanks to the latest methods used.

In the very rare cases in which the result is not obtainable it will be necessary to take a new blood sample in order to repeat the test free of charge.

In other cases, the test could provide a result indicating a suspicion of the presence of chromosomal aneuploidy (borderline result) due to some variables such as placental abnormalities. It will therefore be advised to confirm the result by prenatal invasive diagnosis (Amniocentesis or CVS Test ) that will be performed in a completely free form (both sampling and analysis) at our Centers of Excellence for prenatal diagnosis.