Non-invasive Prenatal Diagnostic Validation Study (NIPD)
Status
Completed
Conditions
Chromosome 18 Aneuploidy
Chromosome 13 Aneuploidy
Sex Chromosome Aberrations
Other Microdeletions
Chromosome 21 Aneuploidy
Treatments
Procedure: Cheek swab/Saliva Sampling
Procedure: Blood draw
Details and patient eligibility
About
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.
Full 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).
Enrollment
1,781 patients
Sex
All
Ages
18+ years old
Volunteers
Accepts Healthy Volunteers
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
Trial design
1,781 participants in 6 patient groups
Women with abnormal fetus
Description:
Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis
Treatment:
Procedure: Blood draw
Women experiencing miscarriage
Description:
Women identified as miscarrying, prior to any D\&C or D\&E procedure
Treatment:
Procedure: Blood draw
Born children
Description:
The children born from women participating in other cohorts of the study.
Treatment:
Procedure: Cheek swab/Saliva Sampling
Male relatives
Description:
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.
Treatment:
Procedure: Blood draw
Procedure: Cheek swab/Saliva Sampling
Non-pregnant women
Description:
Healthy women who are not pregnant
Treatment:
Procedure: Blood draw
Pregnant women
Treatment:
Procedure: Blood draw
Trial contacts and locations
1
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Data sourced from clinicaltrials.gov
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