Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

Objective The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. Study Design Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three...

Full description

Saved in:
Bibliographic Details
Published in:American journal of obstetrics and gynecology 2009-05, Vol.200 (5), p.543.e1-543.e7
Main Authors: Fan, H. Christina, MSc, Blumenfeld, Yair J., MD, El-Sayed, Yasser Y., MD, Chueh, Jane, MD, Quake, Stephen R., DPhil
Format: Article
Language:English
Subjects:
Amniotic Fluid - cytology
aneuploidy
Biological and medical sciences
Chorionic Villi Sampling
Chromosome aberrations
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
digital PCR
Female
Genetic Testing - methods
Genetic Testing - standards
Gynecology. Andrology. Obstetrics
Humans
Medical genetics
Medical sciences
Obstetrics and Gynecology
Polymerase Chain Reaction - methods
Polymerase Chain Reaction - standards
Pregnancy
Prenatal Diagnosis - methods
Prenatal Diagnosis - standards
rapid prenatal diagnosis
Reproducibility of Results
Trisomy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Objective The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. Study Design Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, 18, and 21), and the number of single molecule amplifications was compared to a reference. The difference between target and reference chromosome counts was used to determine the ploidy of each of the target chromosomes. Results Digital PCR accurately identified all cases of fetal trisomy (3 cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of triosmy 13) in the 40 specimens analyzed. The remaining specimens were determined to have normal ploidy for the chromosomes tested. Conclusion Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.
ISSN:0002-9378
1097-6868
DOI:10.1016/j.ajog.2009.03.002