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Original Article

Exploring the cause of early miscarriage with SNP-array analysis and karyotyping

, , , , , & show all
Pages 1-10 | Received 17 Jun 2017, Accepted 10 Aug 2017, Published online: 16 Oct 2017

References

  • Rai R, Regan L. Recurrent miscarriage. Lancet. 2006;368:601–611.
  • Larsen EC, Christiansen OB, Kolte AM, et al. New insights into mechanisms behind miscarriage. BMC Med. 2013;11:154.
  • Zhang YX, Zhang YP, Gu Y, et al. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH. Clin Genet. 2009;75:133–140.
  • Shearer BM, Thorland EC, Carlson AW, et al. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: a retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization. Genet Med. 2011;13:545–552.
  • Lathi RB, Gustin SL, Keller J, et al. Reliability of 46,XX Results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens. Fertil Steril. 2014;101:178–182.
  • Deshpande M, Harper J, Holloway M, et al. Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification. Genet Test Mol Biomark. 2010;14:421–424.
  • Brady PD, Vermeesch JR. Genomic microarrays: a technology overview. Prenat Diagn. 2012;32:336–343.
  • Breman A, Pursley AN, Hixson P, et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012;32:351–361.
  • Kang JU, Koo SH. Clinical implementation of chromosomal microarray technology in prenatal diagnosis. (review). Mol Med Rep. 2012;6:1219–1222.
  • Coughlin CR II, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 2012;4:80.
  • Manning M, Hudgins L, Professional P, et al. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12:742–745.
  • Wang Y, Cheng Q, Meng L, et al. Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study. Clin Genet. 2017;91:849–858.
  • Levy B, Sigurjonsson S, Pettersen B, et al. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 2014;124:202–209.
  • Wang BT, Chong TP, Boyar FZ, et al. Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Mol Cytogenet. 2014;7:33.
  • Dhillon RK, Hillman SC, Morris RK, et al. Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG. 2014;121:11–21.
  • Zhu J, Liu H, Tang J, et al. Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions. Br J Biomed Sci. 2016;73:67–73.
  • Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13:680–685.
  • Sahoo T, Dzidic N, Strecker MN, et al. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med. 2017;19:83–89.
  • Shen J, Wu W, Gao C, et al. Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology. Mol Cytogenet. 2016;9:7.
  • Simons A, Shaffer LG, Hastings RJ. Cytogenetic nomenclature: changes in the ISCN 2013 compared to the 2009 edition. Cytogenet Genome Res. 2013;141:1–6.
  • Lathi RB, Massie JA, Loring M, et al. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics. PLoS One. 2012;7:e31282.
  • Wang S, Hassold T, Hunt P, et al. Inefficient crossover maturation underlies elevated aneuploidy in human female meiosis. Cell. 2017;168:977–989.e17.
  • Gao J, Liu C, Yao F, et al. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion. Mol Cytogenet. 2012;5:33.
  • Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, et al. Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Hum Reprod. 2005;20:1235–1243.
  • Hanna JS, Shires P, Matile G. Trisomy 1 in a clinically recognized pregnancy. Am J Med Genet. 1997;68:98.
  • Dunn TM, Grunfeld L, Kardon NB. Trisomy 1 in a clinically recognized IVF pregnancy. Am J Med Genet. 2001;99:152–153.
  • Banzai M, Sato S, Matsuda H, et al. Trisomy 1 in a case of a missed abortion. J Hum Genet. 2004;49:396–397.
  • Vicić A, Roje D, Strinić T, et al. Trisomy 1 in an early pregnancy failure. Am J Med Genet A. 2008;146A:2439–2441.
  • Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21:958–966.
  • Reddy KS. Double trisomy in spontaneous abortions. Hum Genet. 1997;101:339–345.
  • Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6:137–143.
  • Tyson C, Harvard C, Locker R, et al. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A. 2005;139:173–185.
  • Maslow BS, Budinetz T, Sueldo C, et al. Single-nucleotide polymorphism-microarray ploidy analysis of paraffin-embedded products of conception in recurrent pregnancy loss evaluations. Obstet Gynecol. 2015;126:175–181.
  • Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci. 2009;1151:157–166.
  • Sismani C, Kitsiou-Tzeli S, Ioannides M, et al. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Mol Cytogenet. 2008;1:15.
  • Rosenfeld JA, Tucker ME, Escobar LF, et al. Diagnostic utility of microarray testing in pregnancy loss. Ultrasound Obstet Gynecol. 2015;46:478–486.

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