Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

Trisomy 21 Clinical Trial

— MAPS  

Official title:

Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01852708
• Other study ID #: 12-014-NPT
• Status: Completed
• Start date: November 2012
• Est. completion date: October 2020

Study information

• Verified date: December 2020
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Description:

The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.

Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.

If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1059
• Est. completion date: October 2020
• Est. primary completion date: October 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Age 18 or older at enrollment

• Gestation age of at least 9 weeks, 0 days by best obstetrical estimate

• One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR

• One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR

• Positive high risk noninvasive prenatal screening or serum screening result

• Able to provide informed consent

Exclusion Criteria:

•Maternal history of bone marrow or organ transplantation

Related Conditions & MeSH terms

• Chromosome Aberrations
• Chromosome Disorders
• Down Syndrome
• Microdeletion Syndromes
• Sex Chromosome Aberrations
• Sex Chromosome Abnormalities
• Syndrome
• Trisomy 13
• Trisomy 18
• Trisomy 21

Locations

Country	Name	City	State
Spain	Hospital Materno Infantil Vall d'Hebron	Barcelona
Taiwan	GenePhile Biosciences	Taipei
United States	Dr. Meltzer Clinic	Houston	Texas
United States	Saint Peter's University Hospital	New Brunswick	New Jersey
United States	Columbia University	New York	New York
United States	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Natera, Inc.	San Carlos	California
United States	MFM Group of Southern CA	San Gabriel	California
United States	Washington Women's Wellness Center	Washington	District of Columbia

Sponsors (1)

Lead Sponsor	Collaborator
Natera, Inc.

Countries where clinical trial is conducted

United States,  Spain,  Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sensitivity and Specificity of testing	Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.	1 year