Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics

The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospectiv...

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Bibliographic Details
Published in:PloS one 2012-03, Vol.7 (3), p.e31282-e31282
Main Authors: Lathi, Ruth B, Massie, Jamie A M, Loring, Megan, Demko, Zachary P, Johnson, David, Sigurjonsson, Styrmir, Gemelos, George, Rabinowitz, Matthew
Format: Article
Language:English
Subjects:
Abortion
Abortion, Spontaneous - genetics
Accuracy
Adult
Biology
Chromosomes
Chromosomes, Human - genetics
Cohort Studies
Comparative analysis
Computational Biology - methods
Contamination
Curettage
Cytogenetic Analysis - methods
Cytogenetics
Diagnostic software
Diagnostic systems
DNA microarrays
Female
Flow cytometry
Genomes
Genomics
Health risk assessment
Humans
Hybridization
In vitro fertilization
Infertility
Informatics
Karyotype
Karyotypes
Male
Medicine
Metaphase
Middle Aged
Miscarriage
Oligonucleotide Array Sequence Analysis - methods
Polymorphism
Polymorphism, Single Nucleotide - genetics
Pregnancy
Pregnancy Trimester, First - genetics
Prospective Studies
Reproductive health
Reproductive technologies
Sampling techniques
Single nucleotide polymorphisms
Single-nucleotide polymorphism
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Summary:The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0031282