| Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. | |
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MedLine Citation:
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PMID: 19375573 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Christina Fan; Yair J Blumenfeld; Yasser Y El-Sayed; Jane Chueh; Stephen R Quake |
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Publication Detail:
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Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Studies |
Journal Detail:
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Title: American journal of obstetrics and gynecology Volume: 200 ISSN: 1097-6868 ISO Abbreviation: Am. J. Obstet. Gynecol. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-04-20 Completed Date: 2009-05-18 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0370476 Medline TA: Am J Obstet Gynecol Country: United States |
Other Details:
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Languages: eng Pagination: 543.e1-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, CA, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amniotic Fluid
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cytology Chorionic Villi Sampling Chromosome Disorders / diagnosis*, genetics Female Genetic Testing / methods*, standards Humans Polymerase Chain Reaction / methods*, standards Pregnancy Prenatal Diagnosis / methods*, standards Reproducibility of Results Trisomy |
| Grant Support | |
ID/Acronym/Agency:
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1R01 G002644-01A1//PHS HHS; //Howard Hughes Medical Institute |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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