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

• Conditions: Autosomal Aneuploidy
• Interventions: Genetic: NIPT

• Registration Number: NCT04437992
• Lead Sponsor: Azienda Usl di Bologna

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-01-27
• Status Verified: 2020-06
• Study First Submitted: 2020-06-16
• Study First Submitted QC: 2020-06-16
• Study First Posted: 2020-06-18
• Last Update Submitted: 2020-07-22
• Last Update Posted: 2020-07-24
• Primary Completion: 2021-04-27
• Study Completion: 2021-04-27

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Female
• Target Recruitment: 7000

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.

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pregnant women	NIPT	* 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.

Primary Outcome Measures

Name	Time	Method
NIPT	9 months	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).

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Regione Emilia Romagna; 🇮🇹 Bologna, Italy