Prenatal diagnosis is a valuable tool for identifying diseases affecting the fetus before birth.
It is a set of clinical examinations, instrumental and laboratory techniques aimed at identifying possible prenatal pathologies.

The Casa di Cura San Rossore in collaboration with Ames, one of the most excellent Medical Genetics laboratories, providing tests and services for genetic diagnosis through upgrading with next-generation methodologies, has activated a Prenatal Pathway with Fetal DNA Testing, commonly referred to as NIPT TEST.

Casa di Cura San Rossore relies on the professionalism and expertise of Dr. Simona Rossi, Genetic Biologist, who accompanies patients through this Prenatal Pathway, concluding with the delivery and related explanation of the Nipt Test.

What we are proposing is a Fetal DNA screening test to be performed with a simple blood draw to the pregnant woman from the 11th week of pregnancy and with results expected within 10 days with a medical report of the highest quality.

The test in addition to the classic aneuploidies of chromosomes 21, 18, 13, X and Y can also detect unbalanced structural rearrangements of all chromosomes, such as duplications or deletions of certain DNA regions, with a resolution of 5-7 Mb (megabases).

Chromosomal regions of circulating fetal DNA are sequenced by innovative massively parallel whole fetal genome sequencing technology, using innovative instrumentation ( NextSeq 500, Illumina’s NovaSeq6000)

In addition, it is also possible to analyze some of the most common micro deletions (Di George syndrome, Cri.du.chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, Wolf-Hirschorn syndrome, Jacobsen syndrome, Langer-Giediom syndrome, Smith-Magenis syndrome, Cognitive Brachydactyly-defic syndrome) with a resolution > or equal to 5-7 megabases.

This test can also take on diagnostic value in the case of Mendelian diseases.

It is possible to request information at percorsodiagnosiprenatale@sanrossorecura.it , which will be answered by Dr. Simona Rossi.