The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes

Luise C, Jermy K, May C, et al. Outcome of expectant management of spontaneous first trimester miscarriage: observational study. BMJ (Clin Res Ed). 2002;324(7342):873–5.

Article  Google Scholar 

Quenby S, Gallos ID, Dhillon-Smith RK, et al. Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. Lancet (London, England). 2021;397(10285):1658–67.

Article  CAS  PubMed  Google Scholar 

Kersting A, Wagner B. Complicated grief after perinatal loss. Dialogues Clin Neurosci. 2012;14(2):187–94.

Article  PubMed  PubMed Central  Google Scholar 

Cubo AM, Soto ZM, Haro-Pérez A, et al. Medical versus surgical treatment of first trimester spontaneous abortion: a cost-minimization analysis. PLoS One. 2019;14(1):e0210449.

Article  PubMed  Google Scholar 

Hardy K, Hardy PJ, Jacobs PA, et al. Temporal changes in chromosome abnormalities in human spontaneous abortions: results of 40 years of analysis. Am J Med Genet A. 2016;170(10):2671–80.

Article  CAS  PubMed  Google Scholar 

Zhu XZ, Deng ZM, Dai FF, et al. The impact of early pregnancy metabolic disorders on pregnancy outcome and the specific mechanism. Eur J Med Res. 2023;28(1):197.

Article  PubMed  PubMed Central  Google Scholar 

Wang Y, Li Y, Chen Y, et al. Systematic analysis of copy-number variations associated with early pregnancy loss. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2020;55(1):96–104.

Article  CAS  Google Scholar 

Fan L, Wu J, Wu Y, et al. Analysis of chromosomal copy number in first-trimester pregnancy loss using next-generation sequencing. Front Genet. 2020;11:545856.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang X, Wu H, Gu Z, et al. Chromosomal copy number variation analysis in pregnancy products from recurrent and sporadic miscarriage using next-generation sequencing. Reprod Sci. 2022;29(10):2927–36.

Article  CAS  PubMed  Google Scholar 

Martinez-Portilla RJ, Pauta M, Hawkins-Villarreal A, et al. Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work-up: systematic review and meta-analysis. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2019;53(5):590–7.

Article  CAS  Google Scholar 

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(1):33.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hayes JL, Tzika A, Thygesen H, et al. Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation. Genomics. 2013;102(3):174–81.

Article  CAS  PubMed  Google Scholar 

Liang D, Peng Y, Lv W, et al. Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn JMD. 2014;16(5):519–26.

Article  CAS  PubMed  Google Scholar 

Ma N, Xi H, Chen J, et al. Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism. BMC Med Genomics. 2021;14(1):56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Edwards A, Civitello A, Hammond HA, et al. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991;49(4):746–56.

CAS  PubMed  PubMed Central  Google Scholar 

Brosens JJ, Bennett PR, Abrahams VM, et al. Maternal selection of human embryos in early gestation: insights from recurrent miscarriage. Semin Cell Dev Biol. 2022;131:14–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bender Atik R, Christiansen OB, Elson J, et al. ESHRE guideline: recurrent pregnancy loss: an update in 2022. Hum Reprod Open. 2023;2023(1):hoad002.

PubMed  PubMed Central  Google Scholar 

Magnus MC, Wilcox AJ, Morken NH, et al. Role of maternal age and pregnancy history in risk of miscarriage: prospective register based study. BMJ (Clin Res Ed). 2019;364:l869.

Google Scholar 

Liang D, Cram DS, Tan H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med Off J American College Med Genet. 2019;21(9):1998–2006.

CAS  Google Scholar 

Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med Off J American College Med Genet. 2020;22(2):245–57.

Google Scholar 

Xu H, Poh WT, Sim X, et al. SgD-CNV, a database for common and rare copy number variants in three Asian populations. Hum Mutat. 2011;32(12):1341–9.

Article  CAS  PubMed  Google Scholar 

Wang J, Chen L, Zhou C, et al. Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing. American journal of obstetrics and gynecology. 2018;219(3):287.e1-.e18.

Petrovski S, Wang Q, Heinzen EL, et al. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 2013;9(8):e1003709.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Finley J, Hay S, Oldzej J, et al. The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages. Reprod Biomed Online. 2022;45(1):125–34.

Article  CAS  PubMed  Google Scholar 

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):202–9.

Article  CAS  PubMed  Google Scholar 

Liu S, Song L, Cram DS, et al. Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2015;46(4):472–7.

Article  CAS  Google Scholar 

Wang MZ, Lin FQ, Li M, et al. Semiconductor sequencing analysis of chromosomal copy number variations in spontaneous miscarriage. Med Sci Monit. 2017;23:5550–7.

Article  PubMed  PubMed Central  Google Scholar 

Hanna JS, Shires P, Matile G. Trisomy 1 in a clinically recognized pregnancy. Am J Med Genet. 1997;68(1):98.

Article  CAS  PubMed  Google Scholar 

Dunn TM, Grunfeld L, Kardon NB. Trisomy 1 in a clinically recognized IVF pregnancy. Am J Med Genet. 2001;99(2):152–3.

Article  CAS  PubMed  Google Scholar 

Banzai M, Sato S, Matsuda H, et al. Trisomy 1 in a case of a missed abortion. J Hum Genet. 2004;49(7):396–7.

Article  PubMed  Google Scholar 

Vicić A, Roje D, Strinić T, et al. Trisomy 1 in an early pregnancy failure. American J Med Genet Part A. 2008;146a(18):2439–41.

Article  Google Scholar 

Forsberg LA, Gisselsson D, Dumanski JP. Mosaicism in health and disease - clones picking up speed. Nat Rev Genet. 2017;18(2):128–42.

Article  CAS  PubMed  Google Scholar 

Popovic M, Dhaenens L, Boel A, et al. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma. Hum Reprod Update. 2020;26(3):313–34.

Article  CAS  PubMed  Google Scholar 

Malvestiti F, Agrati C, Grimi B, et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn. 2015;35(11):1117–27.

Article  CAS  PubMed  Google Scholar 

Grati FR, Grimi B, Frascoli G, et al. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Europ J Hum Gen Ejhg. 2006;14(3):282–8.

Article  CAS  Google Scholar 

Gu C, Li K, Li R, et al. Chromosomal aneuploidy associated with clinical characteristics of pregnancy loss. Front Genet. 2021;12:667697.

Article  PubMed  PubMed Central  Google Scholar 

Ozawa N, Ogawa K, Sasaki A, et al. Maternal age, history of miscarriage, and embryonic/fetal size are associated with cytogenetic results of spontaneous early miscarriages. J Assist Reprod Genet. 2019;36(4):749–57.

Article  PubMed  PubMed Central  Google Scholar 

Segawa T, Kuroda T, Kato K, et al. Cytogenetic analysis of the retained products of conception after missed abortion following blastocyst transfer: a retrospective, large-scale, single-centre study. Reprod Biomed Online. 2017;34(2):203–10.

Article  PubMed  Google Scholar 

Hassold T, Benham F, Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet. 1988;42(4):534–41.

CAS  PubMed  PubMed Central  Google Scholar 

Simpson JL, Rechitsky S, Kuliev A. Before the beginning: the genetic risk of a couple aiming to conceive. Fertil Steril.

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