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

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 Overview

• Status: Unknown
• Conditions: Autosomal Aneuploidy
• Intervention / Treatment: Genetic: NIPT

• Study Type: Observational
• Enrollment (Anticipated): 7000

Contacts and Locations

Study Locations

• Italy
  • Bologna, Italy
    • Recruiting
    • Regione Emilia Romagna
    • Contact: Rita Mancini; Phone Number: 051 6478891; Email: rita.mancini@ausl.bologna.it
    • Principal Investigator: Rita Mancini

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Pregnant women; 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; 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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Azienda Usl di Bologna

Study record dates

Study Major Dates

• Study Start (ACTUAL): January 27, 2020
• Primary Completion (ANTICIPATED): April 27, 2021
• Study Completion (ANTICIPATED): April 27, 2021

Study Registration Dates

• First Submitted: June 16, 2020
• First Submitted That Met QC Criteria: June 16, 2020
• First Posted (ACTUAL): June 18, 2020

Study Record Updates

• Last Update Posted (ACTUAL): July 24, 2020
• Last Update Submitted That Met QC Criteria: July 22, 2020
• Last Verified: June 1, 2020

More Information

Terms related to this study

• Keywords: aneuploidies, down syndrome, Edwards syndrome, Patau syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Chromosome Aberrations; Aneuploidy
• Other Study ID Numbers: SAPERER

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No