Non-invasive Prenatal Diagnostic Validation Study

Sex Chromosome Aberrations Clinical Trial

— NIPD  

Official title:

Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01574781
• Other study ID #: GSN012
• Status: Completed
• Phase: N/A
• First received: April 2, 2012
• Last updated: June 28, 2013
• Start date: September 2011
• Est. completion date: April 2013

Study information

• Verified date: June 2013
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1781
• Est. completion date: April 2013
• Est. primary completion date: April 2013
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Time Perspective: Prospective

Related Conditions & MeSH terms

• Aneuploidy
• Chromosome 13 Aneuploidy
• Chromosome 18 Aneuploidy
• Chromosome 21 Aneuploidy
• Chromosome Aberrations
• Chromosome Disorders
• Other Microdeletions
• Sex Chromosome Aberrations

Intervention

Procedure:
• Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
• Cheek swab/Saliva Sampling
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.

Locations

Country	Name	City	State
United States	Natera, Inc	Redwood City	California

Sponsors (1)

Lead Sponsor	Collaborator
Natera, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No