Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics |
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Authors: | Lathi Ruth B Massie Jamie A M Loring Megan Demko Zachary P Johnson David Sigurjonsson Styrmir Gemelos George Rabinowitz Matthew |
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Institution: | Stanford Fertility and Reproductive Medicine Center, Palo Alto, California, United States of America. rlathi@stanford.edu |
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Abstract: | PurposeThe 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.MethodsPatients 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.ResultsThirty 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.ConclusionsMolecular 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. |
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