Non-invasive Prenatal Diagnostic Valida… | Clinical Trial

Key information

Conditions

Chromosome 13 Aneuploidy Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome 18 Aneuploidy Chromosome 21 Aneuploidy Chromosome Aberrations Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Down Syndrome Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Other Microdeletions Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Aberrations Trisomy 13 Syndrome Trisomy 18 Syndrome

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Natera, Inc

Redwood City, California, 94063, United States

About this study

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).

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood draw

Procedure

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

Other names: Non-Invasive Prenatal Diagnosis, NIPD

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.

Other names: Non-Invasive Prenatal Diagnosis, NIPD

Primary outcomes

Fetal chromosome abnormality from a maternal plasma sample

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Registry information

Official study title

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

Acronym: NIPD

Important dates

Study start: 2011
Primary completion: 2013
Study completion: 2013
First posted: Apr 10, 2012
Registry last updated: Jul 2, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed