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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01852708

Acronym

MAPS

Enrollment

1059

Registered

2013-05-14

Start date

2012-11-30

Completion date

2020-10-31

Last updated

2020-12-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Microdeletion Syndromes, Sex Chromosome Abnormalities, Trisomy 13, Trisomy 18, Trisomy 21

Keywords

22q, 1p36, Angelman, Cri-du-chat, Prader-Willi, DiGeorge, Turner syndrome, Patau syndrome, Edwards syndrome, Down syndrome

Brief summary

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
Sensitivity and Specificity of testing	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.

Countries

Spain, Taiwan, United States

Outcome results