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Original Articles

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis

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Pages 3064-3069 | Received 19 Aug 2019, Accepted 07 Aug 2020, Published online: 18 Aug 2020

References

  • Rai R, Regan L. Recurrent miscarriage. Lancet. 2006;368(9535):601–611.
  • Chen D, Cui S, Liu C, et al. Stillbirth in China. Lancet. 2016;387(10032):1995–1996.
  • Mcclure EM, Goldenberg RL. Understanding causes of stillbirth: moving in the right direction. Lancet Glob Health. 2019;7(4):e400–e401.
  • Foster WG, Evans JA, Little J, et al. Human exposure to environmental contaminants and congenital anomalies: a critical review. Crit Rev Toxicol. 2017;47(1):59–84.
  • Korteweg FJ, Bouman K, Erwich JJHM, et al. Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup. Obstet Gynecol. 2008;111(4):865–874.
  • Levy B, Sigurjonsson S, Pettersen B, et al. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 2014;124(2 Pt 1):202–209.
  • Rudolf G, Lovrečić L, Tul N, et al. The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy. Mol Genet Genomic Med. 2019;7(6):e658.
  • Shah MS, Cinnioglu C, Maisenbacher M, et al. Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens. Fertil Steril. 2017;107(4):1028–1033.
  • Reddy UM, Page GP, Saade GR, et al. Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367(23):2185–2193.
  • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–2184.
  • Carvalho B, Dória S, Ramalho C, et al. Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results? Eur J Obstet Gynecol Reprod Biol. 2010;153(2):151–155.
  • Kim JW, Lyu SW, Sung SR, et al. Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis. Arch Gynecol Obstet. 2015;291(2):347–354.
  • Chen C-P, Su Y-N, Lin S-Y, et al. Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. Taiwan J Obstet Gynecol. 2011;50(1):85–94.
  • Lathi RB, Milki AA. Tissue sampling technique affects accuracy of karyotype from missed abortions. J Assist Reprod Genet. 2002;19(11):536–538.
  • South ST, Lee C, Lamb AN, et al. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901–909.
  • Menasha J, Levy B, Hirschhorn K, et al. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med. 2005;7(4):251–263.
  • 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(6):849–858.
  • van den Berg MMJ, van Maarle MC, van Wely M, et al. Genetics of early miscarriage. Biochim Biophys Acta. 2012;1822(12):1951–1959.
  • Wou K, Hyun Y, Chitayat D, et al. Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: a three-year retrospective study resulting in an efficient protocol. Eur J Med Genet. 2016;59(8):417–424.
  • Massalska D, Bijok J, Ilnicka A, et al. Triploidy – variability of sonographic phenotypes. Prenat Diagn. 2017;37(8):774–780.
  • Pauta M, Grande M, Rodriguez-Revenga L, et al. Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018;51(4):453–462.
  • Fu F, Li R, Li Y, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol. 2018;51(4):493–502.
  • Allach El Khattabi L, Heide S, Caberg J-H, et al. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. J Med Genet. 2020;57(5):301–307.
  • Ramalingam A, Zhou X-G, Fiedler SD, et al. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet. 2011;56(7):541–544.

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