Non-invasive Prenatal Diagnostic Validation Study

Completed

• Conditions: Chromosome 21 Aneuploidy; Chromosome 18 Aneuploidy; Sex Chromosome Aberrations; Other Microdeletions; Chromosome 13 Aneuploidy
• Interventions: Procedure: Blood draw; Procedure: Cheek swab/Saliva Sampling

• Registration Number: NCT01574781
• Lead Sponsor: Natera, Inc.

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.

Detailed Description

The investigators will seek to enroll subjects to collect the following types of samples:

* Up to 2,000 maternal blood samples along with their corresponding paternal blood, buccal or saliva samples (1,000 required for final analysis).

* Up to 200 maternal blood samples from carrying a fetus with a confirmed chromosomal abnormality or genetic disorder, along with their corresponding paternal blood, buccal or saliva samples (50 required for final analysis). For women who opted for termination, a genetic sample of the fetus may also be collected.

* Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the biological father's brothers.

* Up to 1,000 cord, buccal or saliva samples from the born children.

* Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy volunteers (20 required for final analysis)

* Up to 400 blood samples from women undergoing D\&C procedure following a miscarriage along with corresponding paternal blood (or buccal or saliva samples) (200 required for final analysis).

Study Timeline

• Study Start: 2011-09
• Study First Submitted: 2012-04-02
• Study First Submitted QC: 2012-04-09
• Study First Posted: 2012-04-10
• Primary Completion: 2013-04
• Study Completion: 2013-04
• Status Verified: 2013-06
• Last Update Submitted: 2013-06-28
• Last Update Posted: 2013-07-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1781

Inclusion Criteria

• 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.

Exclusion Criteria

• Women carrying multiples

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Non-pregnant women	Blood draw	Healthy women who are not pregnant
Women with abnormal fetus	Blood draw	Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis
Women experiencing miscarriage	Blood draw	Women identified as miscarrying, prior to any D\&C or D\&E procedure
Male relatives	Blood draw	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.
Pregnant women	Blood draw	-
Born children	Cheek swab/Saliva Sampling	The children born from women participating in other cohorts of the study.
Male relatives	Cheek swab/Saliva Sampling	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.

Primary Outcome Measures

Name	Time	Method
Fetal chromosome abnormality from a maternal plasma sample	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	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.

Trial Locations

Locations (1)

Natera, Inc; 🇺🇸 Redwood City, California, United States