Clinical trial NCT01574781: Non-invasive Prenatal Diagnostic Validation Study
Official title: Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
First posted: 2012-04-10
Enrollment: 1781
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women

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).

Eligibility criteria: 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

Primary outcomes:
measure: Fetal chromosome abnormality from a maternal plasma sample
timeFrame: 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
Secondary outcomes:
Other outcomes:
Locations:
city: Redwood City
country: United States
facility: Natera, Inc
state: California
Study officials:
affiliation: Natera, Inc.
name: Matthew Rabinowitz, PhD
role: PRINCIPAL_INVESTIGATOR
References: