Trisomy 13, Trisomy 18, Trisomy 21
Conditions
Keywords
Vanadis NIPT system
Brief summary
This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods. The primary objectives are: 1) To assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in the maternal healthcare setting, 2) To assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests, and 3) To evaluate preliminary cost effectiveness of Vanadis NIPT use in different models. The secondary objective is to assess the feasibility of Vanadis NIPT regarding determination of fetal sex.
Interventions
OTHERVanadis NIPT system
A novel cost effective not NGS (next-generation sequencing) test, based on imaging single DNA molecules for high precision NIPT (non-invasive prenatal testing)
Sponsors
A.O.U. Città della Salute e della Scienza
PerkinElmer, Wallac Oy
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 55 Years
Healthy volunteers
No
Inclusion criteria
* between the age of 18 and 55 years (inclusive) * ≥ 10+0 weeks gestation
Exclusion criteria
* Pregnant woman undergoing amniocentesis without any screening test result * Pregnant woman with previous severe hypotension episodes or other conditions that may complicate the blood sampling * Known maternal aneuploidy * Known maternal cancer * Invasive test (chorionic villus sampling or amniocentesis) performed before blood sampling for NIPT
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests | Three weeks |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in comparison to fetal karyotype from invasive testing, and by evaluating overall usability of the test in routine laboratory work. | Three weeks | Evaluation includes the follow up for each woman and matching the results of combined and integrated test and with the results of NIPT and karyotype. Feasibility will be assessed by determining the concordance between chromosomal abnormalities determined by Vanadis NIPT and trisomies confirmed by karyotype analysis, and by assessing the overall usability in the public healthcare setting by evaluating e.g. turnaround time and user friendliness. |
| Evaluate preliminary cost effectiveness of Vanadis NIPT by evaluating resources, false positive rates and detection rates | Three weeks | Cost effectiveness will be evaluated when the test is offered to all women or only women with T21 risk between 1:100 and 1:2500 or between 1:11 and 1:1000, or alternatively to 3000 or 10000 women annually. Cost effectiveness will be assessed by taking into account the costs of NIPT, combined test, invasive procedure, fetal karyotype and counselling, the potential benefits (rate of reduction of invasive procedures, miscarriages, births with trisomy 21) and births with chromosomal diseases undetectable with NIPT. |
| Assess feasibility of Vanadis NIPT regarding determination of fetal sex by comparing the Vanadis NIPT result with the fetal karyotype from invasive testing | Three weeks | — |
Countries
Italy
Outcome results
None listed