Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Trisomy 21 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 Intellectual Disability Male Urogenital Diseases Microdeletion Syndromes 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 Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Materno Infantil Vall d'Hebron, Barcelona, Spain

About this study

The goal of this study is to further develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother's bloodstream during pregnancy.

Women carrying a fetus diagnosed with microdeletions/microduplications (small missing or extra pieces of DNA that can cause problems), aneuploidy (trisomy 21, 18, or 13) or other genetic disorders will be asked to participate.

If this study is successful, it will reduce the need for invasive procedures during pregnancy such as amniocentesis and chorionic villus sampling (CVS) but still enable women to find out accurate information regarding their baby's health early in the pregnancy.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

Age 18 or older at enrollment
Gestation age of at least 9 weeks, 0 days by best obstetrical estimate
One or more fetuses with a clinically confirmed diagnosis of a genetic variant of interest via karyotype, FISH, chromosomal microarray or other genetic assay AND/OR
One or more fetuses with any variant of fetal structure that is expected to require medical or surgical intervention in the newborn period, shorten lifespan, affect intellectual development or otherwise indicate a genetic anomaly AND/OR
Positive high risk noninvasive prenatal screening or serum screening result
Able to provide informed consent

Exclusion criteria

•Maternal history of bone marrow or organ transplantation

Treatment and study plan

Primary outcomes

Sensitivity and Specificity of testing

Time frame: 1 year

Sensitivity and Specificity of the test to diagnose microdeletions (eg. 22q and 5p-) and aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y.

Sponsors and collaborators

Lead sponsor

Natera, Inc.

Industry

Registry information

Official study title

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

Acronym: MAPS

Important dates

Study start: 2012
Primary completion: 2020
Study completion: 2020
First posted: May 14, 2013
Registry last updated: Dec 30, 2020

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