Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

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Key information

Conditions

Microdeletion Syndromes Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Aberrations Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Down Syndrome Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hypogonadism Intellectual Disability Klinefelter Syndrome Male Urogenital Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Sex Chromosome Aberrations Sex Chromosome Abnormalities Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Trisomy 13 Trisomy 13 Syndrome Trisomy 18 Trisomy 18 Syndrome Trisomy 21 Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Natera, San Carlos, California, United States

About this study

The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.

A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).

Exclusion criteria

Not an English language or Spanish language speaker
Genetics report is not available

Treatment and study plan

Primary outcomes

Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus

Time frame: 4 years

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Registry information

Official study title

Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood

Acronym: Microdel Triad

Important dates

Study start: 2012
Primary completion: 2019
Study completion: 2019
First posted: Apr 10, 2014
Registry last updated: Aug 26, 2019

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