Loss EP. ACOG practice bulletin no 200 summary: early pregnancy loss. Obstet Gynecol. 2018;132(5):1311–3. https://doi.org/10.1097/aog.0000000000002900.
Nikitina TV, Lebedev IN. Cytogenetics of recurrent pregnancy loss. Genetika. 2014;50:501–14.
Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod. 2002;17:446–51. https://doi.org/10.1093/humrep/17.2.446.
Article CAS PubMed Google Scholar
Sahoo T, Dzidic N, Strecker MN, Commander S, Travis MK, Doherty C, Tyson RW, Mendoza AE, Stephenson M, Dise CA, Benito CW, Ziadie MS, Hovanes K. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med. 2017;19:83–9. https://doi.org/10.1038/gim.2016.69.
Article CAS PubMed Google Scholar
Soler A, Morales C, Mademont-Soler I, Margarit E, Borrell A, Borobio V, Muñoz M, Sánchez A. Overview of chromosome abnormalities in first trimester miscarriages: a series of 1,011 consecutive chorionic villi sample karyotypes. Cytogenet Genome Res. 2017;152:81–9. https://doi.org/10.1159/000477707.
Article CAS PubMed Google Scholar
Dhillon RK, Hillman SC, Morris RK, McMullan D, Williams D, Coomarasamy A, Kilby MD. 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. https://doi.org/10.1111/1471-0528.12382.
Article CAS PubMed Google Scholar
Pauta M, Grande M, Rodriguez-Revenga L, Kolomietz E, Borrell A. Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018;51:453–62. https://doi.org/10.1002/uog.18929.
Article CAS PubMed Google Scholar
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor HS, Jiang Y-H, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses. Mol Genet Genomic Med. 2023;11:e2181. https://doi.org/10.1002/mgg3.2181.
Article CAS PubMed PubMed Central Google Scholar
Kuleshov MV, Jones MR, Rouillard AD, Fernandez NF, Duan Q, Wang Z, Koplev S, Jenkins SL, Jagodnik KM, Lachmann A, McDermott MG, Monteiro CD, Gundersen GW. Ma’ayan A Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 2016;44(W1):W90-7. https://doi.org/10.1093/nar/gkw377.
Article CAS PubMed PubMed Central Google Scholar
Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal’ karyotypes. Am J Med Genet A. 2006;140:1931–5. https://doi.org/10.1002/ajmg.a.31421.
Article CAS PubMed Google Scholar
Warren JE, Turok DK, Maxwell TM, Brothman AR, Silver RM. Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation. Obstet Gynecol. 2009;114:1093–102. https://doi.org/10.1097/aog.0b013e3181bc6ab0.
Article CAS PubMed Google Scholar
Rajcan-Separovic E, Qiao Y, Tyson C, Harvard C, Fawcett C, Kalousek D, Stephenson M, Philipp T. Genomic changes detected by array CGH in human embryos with developmental defects. Mol Hum Reprod. 2010;16:125–34. https://doi.org/10.1093/molehr/gap083.
Article CAS PubMed Google Scholar
Rajcan-Separovic E, Diego-Alvarez D, Robinson WP, Tyson C, Qiao Y, Harvard C, Fawcett C, Kalousek D, Philipp T, Somerville MJ, Stephenson MD. Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Hum Reprod. 2010;25:2913–22. https://doi.org/10.1093/humrep/deq20213.
Article CAS PubMed Google Scholar
Robberecht C, Pexsters A, Deprest J, Fryns JP, D’Hoghe T, Vermeesch J. Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss. Prenat Diagn. 2012;32(10):933–42. https://doi.org/10.1002/pd.3936.
Viaggi CD, Cavani S, Malacarne M, Floriddia F, Zerega G, Baldo C, Mogni M, Castagnetta M, Piombo G, Coviello DA, Camandona F, Lijoi D, Insegno W, Traversa M, Pierluigi M. First-trimester euploid miscarriages analysed by array-CGH. J Appl Genet. 2013;54:353–9. https://doi.org/10.1007/s13353-013-0157-x.
Article CAS PubMed Google Scholar
Kudesia R, Li M, Smith J, Patel A, Williams Z. Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue. Reprod Biol Endocrinol. 2014;12:19. https://doi.org/10.1186/1477-7827-12-19.
Article PubMed PubMed Central Google Scholar
Liu S, Song L, Cram DS, Xiong L, Wang K, Wu R, Liu J, Deng K, Jia B, Zhong M, Yang F. Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage. Ultrasound Obstet Gynecol. 2015;46:472–7. https://doi.org/10.1002/uog.14849.
Article CAS PubMed Google Scholar
Kasak L, Rull K, Sõber S, Laan M. Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families. Sci Rep. 2017;7:45327. https://doi.org/10.1038/srep45327.
Article CAS PubMed PubMed Central Google Scholar
Sato T, Migita O, Hata H, Okamoto A, Hata K. Analysis of chromosome microstructures in products of conception associated with recurrent miscarriage. Reprod BioMed Online. 2019;38:787–95. https://doi.org/10.1016/j.rbmo.2018.12.010.
Article CAS PubMed Google Scholar
Li H, Liu M, Xie M, Zhang Q, Xiang J, Duan C, Ding Y, Liu Y, Mao J, Wang T, Li H. Submicroscopic chromosomal imbalances contribute to early abortion. Mol Cytogenet. 2018;11:41. https://doi.org/10.1186/s13039-018-0386-0.
Article PubMed PubMed Central Google Scholar
Kashevarova AA, Skryabin NA, Nikitina TV, Lopatkina ME, Sazhenova EA, Zhigalina DI, Savchenko RR, Lebedev IN. Ontogenetic pleiotropy of genes involved in CNVs in human spontaneous abortions. Russ J Genet. 2019;55:1214–26. https://doi.org/10.1134/s1022795419100065.
Wang Y, Li Y, Chen Y, Zhou R, Sang Z, Meng L, Tan J, Qiao F, Bao Q, Luo D, Peng C, Wang YS, Luo C, Hu P, Xu Z. Systematic analysis of copy-number variations associated with early pregnancy loss. Ultrasound Obstet Gynecol. 2020;55:96–104. https://doi.org/10.1002/uog.20412.
Article CAS PubMed Google Scholar
Luo S, Chen X, Yan T, Ya J, Xu Z, Cai P, Yuan D, Tang N. Application of copy number variation sequencing in genetic analysis of miscarriages in early and middle pregnancy. Cytogenet Genome Res. 2020;160:634–42. https://doi.org/10.1159/000512801.
Article CAS PubMed Google Scholar
Li S, Chen L-N, Wang X-H, Zhu H-J, Li X-L, Feng X, Guo L, Ou X-H, Ma J-Y. Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis. PLoS ONE. 2021;16:e0259518. https://doi.org/10.1371/journal.pone.0259518. (Erratum.In:PLoSOne.2022Jan21;17(1):e0263099).
Article CAS PubMed PubMed Central Google Scholar
Sheng Y-R, Hou S-Y, Hu W-T, Wei C-Y, Liu Y-K, Liu Y-Y, Jiang L, Xiang J-J, Sun X-X, Lei C-X, Wang H-L, Zhu X-Y. Characterization of copy-number variations and possible candidate genes in recurrent pregnancy losses. Genes. 2021;12:141. https://doi.org/10.3390/genes12020141.
Article CAS PubMed PubMed Central Google Scholar
Xue S, Wang L, Wei J, Liu Y, Ding G, Dai P. Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China. Front Genet. 2023;14:1319624. https://doi.org/10.3389/fgene.2023.1319624.
Article CAS PubMed PubMed Central Google Scholar
Zeng W, Qi H, Du Y, Cai L, Wen X, Wan Q, Luo Y, Zhu J. Analysis of potential copy-number variations and genes associated with first-trimester missed abortion. Heliyon. 2023;9:e18868. https://doi.org/10.1016/j.heliyon.2023.e18868.
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