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

Sponsor

Natera, Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT01852708

Collaborator

(none)

1,059

Enrollment

Locations

Actual Duration (Months)

117.7

Patients Per Site

1.2

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities Microdeletion Syndromes

Detailed 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.

Study Design

Study Type:

Observational

Actual Enrollment :

1059 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Nov 1, 2012

Actual Primary Completion Date :

Oct 1, 2020

Actual Study Completion Date :

Oct 1, 2020

Arms and Interventions

Arm	Intervention/Treatment
Pregnant Women Women and their partners (presumed biological father of the fetus) who are currently pregnant and carrying a fetus that has been diagnosed with a microdeletion/duplication syndrome, aneuploidy or another genetic disorder (positive karyotype result or positive result on microarray test).

Outcome Measures

Primary Outcome Measures

Sensitivity and Specificity of testing [1 year]
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Natera, Inc.	San Carlos	California	United States	94070
2	MFM Group of Southern CA	San Gabriel	California	United States	91776
3	Washington Women's Wellness Center	Washington	District of Columbia	United States	20010
4	Saint Peter's University Hospital	New Brunswick	New Jersey	United States	08901
5	Columbia University	New York	New York	United States	10032
6	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
7	Dr. Meltzer Clinic	Houston	Texas	United States	77054
8	Hospital Materno Infantil Vall d'Hebron	Barcelona		Spain	08035
9	GenePhile Biosciences	Taipei		Taiwan	10050