Non-invasive Prenatal Diagnostic Validation Study

NCT01574781 | Completed

• 1 other identifier: GSN012
• Study Type: observational
• Target: 1,781
• Locations: 1 country
• Sites: 1

Brief Summary

The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.

Conditions

Chromosome 13 Aneuploidy; Chromosome 18 Aneuploidy; Chromosome 21 Aneuploidy; Sex Chromosome Aberrations; Other Microdeletions

Keywords

Down syndrome; Trisomy 13; Trisomy 18; Microdeletions; Pregnancy; Non-invasive

Outcome Measures

Primary Outcomes (1)

• Fetal chromosome abnormality from a maternal plasma sample

  Maternal plasma will be drawn at the time at which they present while pregnant as long as they are at least 6 weeks along. Additional samples (for confirmation of chromosome makeup) may also be drawn on that fetus when fetal sampling is possible (termination, miscarriage) or on the child at or shortly after birth.

  From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months

Study Arms (6)

Women with abnormal fetus

Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis

Procedure: Blood draw

Women experiencing miscarriage

Women identified as miscarrying, prior to any D\&C or D\&E procedure

Procedure: Blood draw

Born children

The children born from women participating in other cohorts of the study.

Procedure: Cheek swab/Saliva Sampling

Male relatives

The male partners (and presumed biological father of any fetuses/children) of women participating in other cohorts of the study or the biological father's brother and/or father.

Procedure: Blood draw; Procedure: Cheek swab/Saliva Sampling

Non-pregnant women

Healthy women who are not pregnant

Procedure: Blood draw

Pregnant women

Procedure: Blood draw

Interventions

Blood draw PROCEDURE

Blood is drawn at the appropriate time given their cohort inclusion.

Also known as: Non-Invasive Prenatal Diagnosis, NIPD

Male relatives; Non-pregnant women; Pregnant women; Women experiencing miscarriage; Women with abnormal fetus

Cheek swab/Saliva Sampling PROCEDURE

In lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth.

Also known as: Non-Invasive Prenatal Diagnosis, NIPD

Born children; Male relatives

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

Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women

You may qualify if:

• Pregnant women who volunteer to donate blood sample during the first -, second- and/or third trimester
• The biological father of the child (or the father's brother and/or father) has to be at least 18 years of age and consent to his blood, buccal, or saliva collection.
• Pregnant women whose fetus was diagnosed with a chromosomal abnormality or genetic disorder by either amniocentesis or chorionic villus sampling who volunteer to donate a blood sample.
• Pregnant women who volunteer to donate a blood sample after their spontaneous miscarriage prior to undergoing D\&C procedure and who choose to utilize Natera's commercial products of conception molecular karyotyping service.
• Healthy volunteers (non-pregnant female and male) who volunteer to donate their blood sample.
• Umbilical cord blood or cheek swab/saliva samples from born children o Pregnant women who have participated in donating a blood sample during their pregnancy have the option to donate either an umbilical cord blood sample after child delivery, or a cheek swab or saliva sample from the born child using Natera's home kit.

You may not qualify if:

• Women carrying multiples

Sponsors & Collaborators

• Natera, Inc.: lead

Study Sites (1)

Natera, Inc

Redwood City, California, 94063, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Maternal blood, paternal blood or cheek swab, paternal relative blood or cheek swab, fetal blood or tissue, POC tissue, and child cord blood or saliva.

MeSH Terms

Conditions

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

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; 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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Matthew Rabinowitz, PhD

  Natera, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: April 2, 2012
• First Posted: April 10, 2012
• Study Start: September 1, 2011
• Primary Completion: April 1, 2013
• Study Completion: April 1, 2013
• Last Updated: July 2, 2013

Record last verified: 2013-06

Locations

US (1)