The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital). The medical genetics centers, participating in the technical-scientific coordination group of assessment (resolution No. 1894, 4/11/2019), the family counseling centers and the region prenatal hospital clinics are involved as collaborative experimental centers. Currently, 14,400 combined tests are carried out in the Emilia Romagna Region every year. As a result offering the new non-invasive NIPT test, it is estimated that the number of participants in the screening program will increase by up to 20,000/year. The study will collect data on the women who will access the combined test in the first 9 months of the protocol and join the enrollment.
Study Type
OBSERVATIONAL
Enrollment
7,000
The test, which requires two 10 ml tubes of blood, will be performed simultaneously with the chemical biomarkers of the combined test at 10-12 weeks of gestation
Regione Emilia Romagna
Bologna, Italy
RECRUITINGNIPT
Establish in which percentage invasive tests (amniocentesis and chorionic villus sampling) would be avoidable by replacing routine screening methods (i.e. combined test) with non-invasive prenatal test (NIPT).
Time frame: 9 months
Percentage of NIPT
Establish a percentage of NIPT with inconclusive results
Time frame: 9 months
diagnostic performance
Verify the diagnostic performance of the Vanadis NIPT method by verification of sensitivity, specificity, and predictive power in comparison to the combined test currently in use
Time frame: 9 months
Detection of Chromosomal Abnormalities
Evaluate the added value of nuchal translucency for the detection of Chromosomal Abnormalities other than T21, T18, T13
Time frame: 9 months
TAT (turnaround time)
Evaluate TAT (turnaround time) of the NIPT and operability of the technology adopted by the laboratory
Time frame: 9 months
Validate NIPT organizational infrastructure
Validate the organizational infrastructure for the NIPT execution in the area outside of the reference laboratory.
Time frame: 9 months
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