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Comparative Study
. 2012;7(3):e31282.
doi: 10.1371/journal.pone.0031282. Epub 2012 Mar 5.

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

Ruth B Lathi  1 , Jamie A M Massie, Megan Loring, Zachary P Demko, David Johnson, Styrmir Sigurjonsson, George Gemelos, Matthew Rabinowitz
Affiliations
Comparative Study

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

Ruth B Lathi et al. PLoS One. 2012.

Erratum in

  • PLoS One. 2012;7(8): doi/10.1371/annotation/7a3d2279-0f96-433c-bb3f-d7fda1759633

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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Conflict of interest statement

Competing Interests: The authors have read the journal's policy and have the following conflicts. Dr. Zachary P. Demko, Dr. Styrmir Sigurjonsson, Dr. George Gemelos, and Dr. Matthew Rabinowitz are full time employees and hold stock in Gene Security Network. Dr. David Johnson is a past employee and stock holder of Gene Security. This does not alter the authors' adherence to all the PLoS ONE policies on sharing data and materials.

Figures

Figure 1
Figure 1. Graphic illustration of data for individual chromosome with different chromosome copy number a) monosomy 21, b) disomy 6, c) trisomy 16, d) partitial duplication chromosome 7.
See this image and copyright information in PMC

References

    1. Wilcox AJ, Weinberg CR, O'Connor JF, Baird DD, Schlatterer JP, et al. Incidence of early loss of pregnancy. N Engl J Med. 1988;319(4):189–94. - PubMed
    1. Wang X, Chen C, Wang L, Chen D, Guang W, et al. Conception, early pregnancy loss, and time to clinical pregnancy: a population-based prospective study. Fertil Steril. 2003;79(3):577–84. - PubMed
    1. Harlap S, Shiono PH. Alcohol, smoking, and incidence of spontaneous abortions in the first and second trimester. Lancet. 1980;2(8187):173–6. - PubMed
    1. Menasha J, Levy B, Hirschhorn K, Kardon NB. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med. 2005;7(4):251–63. - PubMed
    1. Eiben B, Bartels I, Bähr-Porsch S, Borgmann S, Gatz G, et al. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet. 1990;47(4):656–63. - PMC - PubMed

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