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

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.

Study Overview

• Status: Unknown
• Conditions: Trisomy 21; Trisomy 18; Trisomy 13
• Intervention / Treatment: Other: Vanadis NIPT system

• Study Type: Observational
• Enrollment (Anticipated): 1200

Contacts and Locations

Study Locations

• Italy
  • Turin, Italy
    • Centro Screening neonatale e prenatale del Piemonte e Valle d'Aosta AOU Città della Salute e della Scienza di Torino

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 55 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

1. Pregnant women attending the clinic for chorionic villus sampling or amniocentesis and have combined or integrated screening test result available
2. Pregnant women attending the clinic for chorionic villus sampling and willing to have combined or integrated screening test result for study purposes

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Pregnant women; Consenting women will provide samples to be tested with Vanadis NIPT system.	Other: Vanadis 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)

What is the study measuring?

Primary Outcome Measures

Outcome 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 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

Collaborators and Investigators

• Sponsor: PerkinElmer, Wallac Oy
• Collaborators: Azienda Ospedaliera Città della Salute e della Scienza di Torino
• Investigators: Principal Investigator: Enza Pavanello, Centro Screening neonatale e prenatale del Piemonte e Valle d'Aosta AOU Città della Salute e della Scienza di Torino

Study record dates

Study Major Dates

• Study Start (Actual): June 20, 2018
• Primary Completion (Anticipated): April 1, 2020
• Study Completion (Anticipated): August 1, 2020

Study Registration Dates

• First Submitted: May 17, 2018
• First Submitted That Met QC Criteria: June 5, 2018
• First Posted (Actual): June 18, 2018

Study Record Updates

• Last Update Posted (Actual): August 29, 2018
• Last Update Submitted That Met QC Criteria: August 28, 2018
• Last Verified: August 1, 2018

More Information

Terms related to this study

• Keywords: Vanadis NIPT system
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Aneuploidy; Chromosome Duplication; Down Syndrome; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
• Other Study ID Numbers: F01-16013

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No