PERSONAL VISION – NIPT

Innovative genetics in prenatal screening

Personal Vision tests are CE-IVD marked

Why get tested?

Personal Vision is a non-invasive prenatal genetic screening test (NIPT) that detects the risk of chromosomal abnormalities (aneuploidy and microdeletions) by analyzing the circulating free fetal DNA by simply taking a blood sample from the mother. The use of this type of test drastically reduces the use of invasive diagnostic investigations, reducing the number of abortions linked to the invasiveness of fetal material sampling techniques.

Tests available

Depending on your necessities, you can choose from the following tests:

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Turner Syndrome
  • Trisomy X
  • Klinefelter Syndrome
  • Jacobs Syndrome
  • Foetal sex

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Turner Syndrome
  • Trisomy X
  • Klinefelter Syndrome
  • Jacobs Syndrome
  • Foetal sex
  • Non-sex chromosome aneuploidies

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Turner Syndrome
  • Trisomy X
  • Klinefelter Syndrome
  • Jacobs Syndrome
  • Foetal sex
  • Cri-du-chat Syndrome
  • Prader Willi/Angelman Syndrome
  • Wolf-Hirschhorn Syndrome
  • 1p36 deletion Syndrome
  • Non-sex chromosome aneuploidies

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Turner Syndrome
  • Trisomy X
  • Klinefelter Syndrome
  • Jacobs Syndrome
  • Foetal sex
  • Di George Syndrome
  • Cri-du-chat Syndrome
  • Prader Willi/Angelman Syndrome
  • Wolf-Hirschhorn Syndrome
  • 1p36 deletion Syndrome
  • Non-sex chromosome aneuploidies
  • Jacobsen Syndrome
  • Langer-Giedion Syndrome
  • Smith-Magenis Syndrome
  • Brachydactyly Syndrome – cognitive deficit
  • Alagille Syndrome – JAG1
  • Charge Syndrome – CHD7
  • Cornelia de Lange type 1 Syndrome – NIPBL
  • Nevo Syndrome – Sotos type 1 Syndrome – NSD1
  • Bohring-Opitz Syndrome – ASXL1
  • Schinzel-Giedion Syndrome – SETBP1
  • Osteogenesis imperfecta type I, II, III, IV – COL1A1
  • Achondrogenesis – COL2A1
  • Osteogenesis imperfecta type II, III, IV – COL1A2
  • Achondroplasia – FGFR3
  • Crouzon Syndrome with acanthosis nigricans – FGFR3
  • Hypochondroplasia – FGFR3
  • Muenke Syndrome – FGFR3
  • Thanatophoric dysplasia type I and II – FGFR3
  • CATSHL Syndrome – FGFR3
  • 1p32-p31 deletion Syndrome
  • 1p31 duplication Syndrome
  • 1q41-q42 deletion Syndrome
  • 2p16.1-p15 deletion Syndrome
  • Duplication syndrome 2q31.1
  • Split hand and foot malformation syndrome (SHFM) 2q31
  • 2q33.1 deletion syndrome
  • 2q35 duplication syndrome
  • 3pter-p25 deletion syndrome
  • 3q13.31 deletion syndrome
  • 3q22-q24 Dandy-Walker syndrome
  • 3q29 deletion syndrome
  • 3q29 duplication syndrome
  • 4q21 deletion syndrome
  • 4q32.1-q32.2 Triplication syndrome
  • 5q12 deletion syndrome
  • 5q14.3 deletion syndrome
  • 6pter-p24 deletion syndrome
  • 6q24-q25 deletion syndrome
  • 8q22.1 deletion syndrome
  • 8q22.1 duplication syndrome
  • 8p23.1 deletion syndrome
  • 8p23.1 duplication syndrome
  • 10q22.3-q23.2 10q23 deletion syndrome
  • 10q26 deletion syndrome
  • WAGR syndrome 11p13-p12
  • Potocki-Shaffer syndrome 11p11.2
  • 12q14 microdeletion syndrome
  • 13q14 deletion syndrome
  • 14q22.1-q22.3 microdeletion syndrome
  • 15q14 deletion syndrome
  • 15q25 deletion syndrome
  • 16p13.3 deletion syndrome
  • 16q22 deletion syndrome
  • Yuan-Harel-Lupski syndrome 17p12-p11.2
  • Potocki-Lupski syndrome 17p11.2
  • 17q12 deletion syndrome
  • 17q12 duplication syndrome
  • 17q23.1-q23.2 deletion syndrome
  • De Grouchy syndrome – Monosomy 18p
  • 19q13.11 deletion syndrome

Personal Vision Basic, Medium e Full are CE-IVD marked tests.

What are our advantages?

Available forms and completeness of information
The forms required for the execution of the service are user-friendly and provide that they can be filled out quickly, together with the professional who collects the consent.
The test determines the percentage of fetal fraction and reports it in the report to guarantee the accuracy and depth of the investigation, as required by the national SIEOG guidelines, (www.sieog.it).

Availability of home nursing service
Our nationwide organization allows us to provide a home pick-up service (available in the main urban centers). Simply by contacting Personal Genomics customer care, you can agree on the date that best suits your needs.

Pre-test and post-test genetic counseling
Our geneticists are always at the patient’s side to carry out free genetic consultations before taking the sample and following the report to comment on it together. It is essential that the woman / couple receives pre-test counseling, to obtain the necessary clarifications to make an informed choice on whether to undergo screening.

Tests that can be performed for twin pregnancies and egg donations
All Personal Vision tests can be performed both for twin pregnancies, egg donations and twin pregnancies from egg donations. Personal Vision also uses a methodology capable of identifying vanishing twins.

How testing works

The genetic test consists in the execution of a simple venous blood sampling starting from the 10th week of gestation, in the subsequent extraction of the free circulating DNA and, finally, in the analysis of the free fetal DNA circulating in the maternal blood using Next Generation techniques. Sequencing (NGS) and sophisticated bioinformatics analysis.

Reporting time

Estimated reporting times: 3-6 working days for Personal Vision Basic, Medium and Full, 10 working days for Personal Vision Platinum.

Sensitivity and specificity

Analytical sensitivity > 95.5% and analytical specificity > 99.34% for Personal Vision Basic, Medium and Full, analytical sensitivity > 74.1% and analytical specificity > 99.80% for Personal Vision Platinum.

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