Development of a NIPTT for Detecting Copy Number Variations

Noninvasive In Vitro Diagnostic Test For Fetal Chromosomal Abnormality: Assay Development and Optimization in Affected Pregnancies With Abnormal Microarray Findings

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04774640

Enrollment

Registered

2021-03-01

Start date

2014-05-29

Completion date

2018-04-30

Last updated

2023-08-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Copy Number Variations

Brief summary

To collect whole blood samples from pregnant women for the purpose of developing, optimizing and evaluating laboratory-developed noninvasive prenatal test (NIPT) for the detection of fetal chromosomal abnormalities of interest defined as microinsertions, microdeletions and other copy number variations (CNVs). The NIPT result will be compared to the test results obtained by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling.

Detailed description

This is a single center specimen collection study. Eligible subjects from across the USA will be referred to the single center for participation. This study will evaluate whether the test methods being developed for the detection of fetal chromosomal abnormalities of interest in maternal whole blood samples can be used in clinical practice. Enrollment of study subjects will be done in two phases - an initial pilot study phase to collect samples for research and development activities, followed by a larger single-blinded sample collection phase for NIPT evaluation. For both phases, study subjects will be enrolled in a prospective manner until the predetermined sample size is attained. Each study subject will be asked to provide one 20mL blood sample.

Interventions

DEVICEMaterniT GENOME

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to 89 Years

Healthy volunteers

Inclusion criteria

* Subject is female * Subject is 18 years of age or older * Subject is pregnant at no less than 10 weeks and no more than 36 weeks gestation * Subject provides a signed and dated informed consent * Subject has a current pregnancy in which the fetus is determined to have a chormosomal abnormality of interest (microinsertions, microdeletions and other CNVs) as determined by microarray analysis of fetal cellular material obtained by IP

Exclusion criteria

* Subject has experienced fetal demise in the current pregnancy

Design outcomes

Primary

Measure	Time frame	Description
Development of non-invasive pregnancy test (NIPT)	5 years	NIPT results will be compared to test results obtain by microarray analysis of fetal cellular material obtained by amniocentesis or chorionic villus sampling

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026