Development of a NIPTT for Detecting Copy Number Variations

Sequenom

Status: Terminated

Conditions: Copy Number Variations

Treatments: Device: MaterniT GENOME

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT04774640

SQNM-T21-306

Details and patient eligibility

About

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.

Full 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.

Enrollment: 9 patients

Sex: Female

Ages: 18 to 89 years old

Volunteers: No 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