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

NCT04437992 | Unknown

• 1 other identifier: SAPERER
• Study Type: observational
• Target: 7,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Autosomal Aneuploidy

Keywords

aneuploidies, down syndrome, Edwards syndrome, Patau syndrome

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• Percentage of NIPT

  9 months

• diagnostic performance

  9 months

• Detection of Chromosomal Abnormalities

  9 months

• TAT (turnaround time)

  9 months

• Validate NIPT organizational infrastructure

  9 months

Study Arms (1)

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

Interventions

NIPT GENETIC

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

Pregnant women

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: Female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Azienda Usl di Bologna: lead

Study Sites (1)

Regione Emilia Romagna

Bologna, Italy

RECRUITING

MeSH Terms

Conditions

Aneuploidy; Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome

Interventions

dichlorobis(azomycin)platinum II

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 16, 2020
• First Posted: June 18, 2020
• Study Start: January 27, 2020
• Primary Completion: April 27, 2021
• Study Completion: April 27, 2021
• Last Updated: July 24, 2020

Record last verified: 2020-06

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)