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

NCT01852708 | Completed

• 1 other identifier: 12-014-NPT
• Study Type: observational
• Target: 1,059
• Locations: 3 countries
• Sites: 9

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

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).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant women

You may qualify if:

• 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

You may not qualify if:

• Maternal history of bone marrow or organ transplantation

Sponsors & Collaborators

• Natera, Inc.: lead

Study Sites (9)

Natera, Inc.

San Carlos, California, 94070, United States

Location

MFM Group of Southern CA

San Gabriel, California, 91776, United States

Location

Washington Women's Wellness Center

Washington D.C., District of Columbia, 20010, United States

Location

Saint Peter's University Hospital

New Brunswick, New Jersey, 08901, United States

Location

Columbia University

New York, New York, 10032, United States

Location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Dr. Meltzer Clinic

Houston, Texas, 77054, United States

Location

Hospital Materno Infantil Vall d'Hebron

Barcelona, 08035, Spain

Location

GenePhile Biosciences

Taipei, 10050, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

The mother and biological father (if available) will be asked to provide a blood sample. There will be up to 4 tubes collected from the mother (approximately 3 tablespoons) and 1 tube collected from the father (2 teaspoons). The father may instead provide a saliva or buccal sample.

MeSH Terms

Conditions

Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Sex Chromosome Aberrations; Turner Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Zachary Demko, PhD

  Natera, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 6, 2013
• First Posted: May 14, 2013
• Study Start: November 1, 2012
• Primary Completion: October 1, 2020
• Study Completion: October 1, 2020
• Last Updated: December 30, 2020

Record last verified: 2020-12

Locations

US (7); ES (1); TW (1)