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
  • Autosomal aneuploidies
  • Fetal sex
  • Additionally, if caused by deletions larger than 7 Mb:
    • Cri-du-chat syndrome
    • Prader-Willi/Angelman syndrome
    • Wolf-Hirschhorn syndrome
    • 1p36 deletion syndrome
  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Turner syndrome
  • Trisomy X
  • Klinefelter syndrome
  • Jacobs syndrome
  • Autosomal aneuploidies
  • Fetal sex
  • Additionally, ALL deletions/duplications larger than 7 Mb

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 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.

How is the test administered on?

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.

Turnaround Times

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

Sensitivity and specificity

The test has a sensitivity of over 99.9% for trisomies 21, 18, and 13; 96.4% for rare autosomal aneuploidies; and 74.1% for deletions/duplications ≥ 7 Mb
Specificity is 99.9% for T21, T18, and T13, and 99.8% for both rare autosomal aneuploidies and deletions/duplications ≥ 7 Mb.

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