Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)

Study Overview
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Brief Summary
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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.

Official Title
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Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)

Conditions
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Autosomal Aneuploidy

Intervention / Treatment
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* Genetic: NIPT


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics. Women able to understand the information, participate in pre-test counseling and provide informed consent. Exclusion Criteria: Women under the age of 18 and/or unable to give informed consent pregnancies with more than two twins certain evidence of initial twinning, with subsequent disappearance of one of the twins (vanishing twin) known maternal chromosome mosaicisms present in the mother and involving the chromosomes subject to investigation presence of neoplasia in pregnant women previous allogeneic transplantation in pregnant women immunotherapy, radiotherapy or hemotransfusion performed in the pregnant woman within the previous 3 months.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pregnant women<br>Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics. Women able to understand the information, participate in pre-test counseling and provide informed consent. | Genetic: NIPT<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| NIPT | 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). | 9 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of NIPT | Establish a percentage of NIPT with inconclusive results | 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 | 9 months | 
| Detection of Chromosomal Abnormalities | Evaluate the added value of nuchal translucency for the detection of Chromosomal Abnormalities other than T21, T18, T13 | 9 months | 
| TAT (turnaround time) | Evaluate TAT (turnaround time) of the NIPT and operability of the technology adopted by the laboratory | 9 months | 
| Validate NIPT organizational infrastructure | Validate the organizational infrastructure for the NIPT execution in the area outside of the reference laboratory. | 9 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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aneuploidies, down syndrome, Edwards syndrome, Patau syndrome