Clinical trial NCT01852708: Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
Official title: Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Trisomy 21
Trisomy 18
Trisomy 13
Sex Chromosome Abnormalities
Microdeletion Syndromes
Keywords: 22q
1p36
Angelman
Cri-du-chat
Prader-Willi
DiGeorge
Turner syndrome
Patau syndrome
Edwards syndrome
Down syndrome
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
First posted: 2013-05-14
Enrollment: 1059
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant women

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Sensitivity and Specificity of testing
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: San Carlos
country: United States
facility: Natera, Inc.
state: California
city: San Gabriel
country: United States
facility: MFM Group of Southern CA
state: California
city: Washington
country: United States
facility: Washington Women's Wellness Center
state: District of Columbia
city: New Brunswick
country: United States
facility: Saint Peter's University Hospital
state: New Jersey
city: New York
country: United States
facility: Columbia University
state: New York
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Dr. Meltzer Clinic
state: Texas
city: Barcelona
country: Spain
facility: Hospital Materno Infantil Vall d'Hebron
city: Taipei
country: Taiwan
facility: GenePhile Biosciences
Study officials:
affiliation: Natera, Inc.
name: Zachary Demko, PhD
role: PRINCIPAL_INVESTIGATOR
References: