Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell‐free DNA

What's already known about this topic? Prenatal screening for certain fetal chromosomal conditions can be performed using cell‐free DNA (cfDNA) in maternal plasma. cfDNA is thought to originate primarily from apoptosis of placental cytotrophoblast and syncytiotrophoblast cells; therefore, a fal...

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Bibliographic Details
Published in:Prenatal diagnosis 2017-03, Vol.37 (3), p.296-298
Main Authors: Uquillas, Kristen, Chan, Yen, King, Jennifer R., Randolph, Linda M., Incerpi, Marc
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
Apoptosis
Cell-Free Nucleic Acids - blood
Chemical vapor synthesis
Chorionic Villi Sampling
Deoxyribonucleic acid
Diagnostic systems
Diagnostic tests
DNA
Down Syndrome - genetics
Female
Fetuses
Genetic counseling
Genetic screening
Gestational Age
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Mosaicism
Patients
Placenta
Pregnancy
Prenatal development
Sampling
Trisomy
Villus
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Summary:What's already known about this topic? Prenatal screening for certain fetal chromosomal conditions can be performed using cell‐free DNA (cfDNA) in maternal plasma. cfDNA is thought to originate primarily from apoptosis of placental cytotrophoblast and syncytiotrophoblast cells; therefore, a false negative result may not be representative of the fetal karyotype. A positive cfDNA screen requires confirmation with diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis. What does this study add? This case illustrates detection of fetal and placental trisomy 21 mosaicism by cfDNA that was not confirmed with CVS. Patients for whom cfDNA is appropriate should be offered prior genetic counseling. Those who choose diagnostic testing via CVS should be counseled on the possibility of true fetal or confined placental mosaicism. Amniocentesis preferentially should be offered, as CVS represents a similar cell origin as those from which the cfDNA results are derived.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.4992