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

Natera, Inc.1,059 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

1,059

Conditions

Trisomy 21 Trisomy 18 Trisomy 13 Sex Chromosome Abnormalities Microdeletion Syndromes

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (9)

Natera, Inc.

San Carlos, California, United States

MFM Group of Southern CA

San Gabriel, California, United States

Washington Women's Wellness Center

Washington D.C., District of Columbia, United States

Saint Peter's University Hospital

Outcomes

Primary Outcomes

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.

Time frame: 1 year

Data from ClinicalTrials.gov

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