Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

Study Overview
=================
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.

Official Title
-----------------
Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

Conditions
-----------------
Trisomy 21, Trisomy 18, Trisomy 13

Intervention / Treatment
-----------------
* Other: Vanadis NIPT system


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 55 Years

Sexes Eligible for Study
-----------------
Female

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pregnant women<br>Consenting women will provide samples to be tested with Vanadis NIPT system. | Other: Vanadis NIPT system<br>* A novel cost effective not NGS (next-generation sequencing) test, based on imaging single DNA molecules for high precision NIPT (non-invasive prenatal testing)<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | Three weeks | 
| Evaluate preliminary cost effectiveness of Vanadis NIPT by evaluating resources, false positive rates and detection rates | 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. | Three weeks | 
| 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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Vanadis NIPT system