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

Azienda Usl di Bologna

Status: Unknown

Conditions: Autosomal Aneuploidy

Treatments: Genetic: NIPT

Study type: Observational

Funder types: Other

Identifiers

NCT04437992

SAPERER

Details and patient eligibility

About

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.

Enrollment: 7,000 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

7,000 participants in 1 patient group

Pregnant women

Description:

* 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.

Treatment:

Genetic: NIPT