Autosomal AneuploidySAPERERNCT04437992
Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
An observational study of Autosomal Aneuploidy, run by Azienda Usl di Bologna at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Autosomal Aneuploidy
- What is being tested?
- NIPT
- How many people
- 7,000 participants
- Where
- 1 siteItaly
- Study dates
- 27 Jan 2020to 27 Apr 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics.
Who may be able to join
- 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.
Who cannot join
- 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 locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Regione Emilia Romagna
Bologna
Rita Mancini, 051 6478891, rita.mancini@ausl.bologna.it
Rita Mancini
About this study
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.
Read more
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
- Being tested
- NIPT
- Keywords
- aneuploidies, down syndrome, Edwards syndrome, Patau syndrome
- Medical subject headings
- Aneuploidy, Down Syndrome, Trisomy 18 Syndrome, Trisomy 13 Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NIPTGenetic
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
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: NIPT |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 9 months
Secondary outcomes (5)
Percentage of NIPT
Establish a percentage of NIPT with inconclusive results
Measured: 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
Measured: 9 months
Detection of Chromosomal Abnormalities
Evaluate the added value of nuchal translucency for the detection of Chromosomal Abnormalities other than T21, T18, T13
Measured: 9 months
TAT (turnaround time)
Evaluate TAT (turnaround time) of the NIPT and operability of the technology adopted by the laboratory
Measured: 9 months
Validate NIPT organizational infrastructure
Validate the organizational infrastructure for the NIPT execution in the area outside of the reference laboratory.
Measured: 9 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2020
- Study start27 Jan 2020
- Primary completion27 Apr 2021 (estimated)
- Study completion27 Apr 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Autosomal AneuploidyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 7,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Azienda Usl di Bologna
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04437992
- Sponsor's protocol ID
- SAPERER
- Acronym
- SAPERER
- Status last verified
- Jun 2020
- First submitted
- 16 Jun 2020
- Last updated
- 24 Jul 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Cerreta V, Musti MA, Simonazzi G, Frazzoni A, Gnudi E, Luatti S, Mancini R; SAPERER Study Group. Screening for major aneuploidies at 10 weeks of gestation in an unselected population: comparing the combined test to the non-invasive prenatal testing with rolling-circle replication (SAPERER study). Eur J Obstet Gynecol Reprod Biol. 2026 May;321:115035. doi: 10.1016/j.ejogrb.2026.115035. Epub 2026 Feb 27.
PubMed 41775005
Study at a glance
From the registry record, last updated by the sponsor on 24 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
- ClinicalTrials.gov ID
- NCT04437992
- Acronym / sponsor ID
- SAPERER / SAPERER
- Conditions
- Autosomal Aneuploidy
- Keywords
- aneuploidies, down syndrome, Edwards syndrome, Patau syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 7,000 participants (estimated)
- Lead sponsor
- Azienda Usl di BolognaOther government
- Study start
- 27 Jan 2020 (actual)
- Primary completion
- 27 Apr 2021 (estimated)
- Study completion
- 27 Apr 2021 (estimated)
- First posted
- 18 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant women | – | Genetic: 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women resident in the Emilia Romagna region who access the combined test at regional counseling centers and hospital prenatal clinics.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NIPTThe 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 | Genetic | Pregnant women |
Primary outcome
NIPT
Time frame: 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).
5 secondary outcomes
Percentage of NIPT
Time frame: 9 months
diagnostic performance
Time frame: 9 months
Detection of Chromosomal Abnormalities
Time frame: 9 months
TAT (turnaround time)
Time frame: 9 months
Validate NIPT organizational infrastructure
Time frame: 9 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jul 2020.
- Derived from this study: PubMed 41775005Cerreta V, Musti MA, Simonazzi G, Frazzoni A, Gnudi E, Luatti S, Mancini R; SAPERER Study Group. Screening for major aneuploidies at 10 weeks of gestation in an unselected population: comparing the combined test to the non-invasive prenatal testing with rolling-circle replication (SAPERER study). Eur J Obstet Gynecol Reprod Biol. 2026 May;321:115035. doi: 10.1016/j.ejogrb.2026.115035. Epub 2026 Feb 27.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autosomal Aneuploidy, run by Azienda Usl di Bologna at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Jul 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
NIPT (time frame: 9 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04437992, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jul 2020.