Macklon NS, Geraedts JP, Fauser BC. Conception to ongoing pregnancy: the ‘black box’ of early pregnancy loss. Hum Reprod Update. 2002;8:333–43. https://doi.org/10.1093/humupd/8.4.333.

Article  CAS  PubMed  Google Scholar 

Larsen EC, Christiansen OB, Kolte AM, et al. New insights into mechanisms behind miscarriage. BMC Med. 2013;11: 154. https://doi.org/10.1186/1741-7015-11-154.

Article  PubMed  PubMed Central  Google Scholar 

Wilcox AJ, Harmon Q, Doody K, et al. Preimplantation loss of fertilized human ova: estimating the unobservable. Hum Reprod. 2020;35:743–50. https://doi.org/10.1093/humrep/deaa048.

Article  PubMed  PubMed Central  Google Scholar 

Fragouli E, Alfarawati S, Spath K, et al. The origin and impact of embryonic aneuploidy. Hum Genet. 2013;132:1001–13. https://doi.org/10.1007/s00439-013-1309-0.

Article  PubMed  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. 2019;364: l869. https://doi.org/10.1136/bmj.l869.

Article  PubMed  PubMed Central  Google Scholar 

Bruckner TA, Mortensen LH, Catalano RA. Spontaneous pregnancy loss in Denmark following economic downturns. Am J Epidemiol. 2016;183:701–8. https://doi.org/10.1093/aje/kww003.

Article  PubMed  Google Scholar 

Rull K, Nagirnaja L, Laan M. Genetics of recurrent miscarriage: challenges, current knowledge, future directions. Front Genet. 2012;3: 34. https://doi.org/10.3389/fgene.2012.00034.

Article  CAS  PubMed  PubMed Central  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. 2021;397:1658–67. https://doi.org/10.1016/S0140-6736(21)00682-6.

Article  CAS  PubMed  Google Scholar 

Eiben B, Bartels I, Bahr-Porsch S, 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;47:656–63.

CAS  PubMed  PubMed Central  Google Scholar 

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;7:251–63. https://doi.org/10.1097/01.gim.0000160075.96707.04.

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;170:2671–80. https://doi.org/10.1002/ajmg.a.37795.

Article  CAS  PubMed  Google Scholar 

van den Berg MM, van Maarle MC, van Wely M, et al. Genetics of early miscarriage. Biochim Biophys Acta. 2012;1822:1951–9. https://doi.org/10.1016/j.bbadis.2012.07.001.

Article  CAS  PubMed  Google Scholar 

Smits MAJ, van Maarle M, Hamer G, et al. Cytogenetic testing of pregnancy loss tissue: a meta-analysis. Reprod Biomed Online. 2020;40:867–79. https://doi.org/10.1016/j.rbmo.2020.02.001.

Article  CAS  PubMed  Google Scholar 

Lebedev IN, Ostroverkhova NV, Nikitina TV, et al. Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis. Eur J Hum Genet. 2004;12:513–20. https://doi.org/10.1038/sj.ejhg.5201178.

Article  CAS  PubMed  Google Scholar 

Soler A, Morales C, Mademont-Soler I, et al. 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 

Maisenbacher MK, Merrion K, Levy B, et al. Single nucleotide polymorphism (SNP) array analysis of 63,277 products of conception (POC) samples: a 10-year laboratory experience. Fertil Steril. 2020;114: e47.

Article  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;124:202–9. https://doi.org/10.1097/AOG.0000000000000325.

Article  CAS  PubMed  Google Scholar 

Gu C, Li K, Li R, et al. Chromosomal aneuploidy associated with clinical characteristics of pregnancy loss. Front Genet. 2021;12: 667697. https://doi.org/10.3389/fgene.2021.667697.

Article  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;45:125–34. https://doi.org/10.1016/j.rbmo.2022.03.014.

Article  CAS  PubMed  Google Scholar 

Zhu D, Wei X, Zhou XY, et al. Chromosomal abnormalities in recurrent pregnancy loss and its association with clinical characteristics. J Assist Reprod Genet. 2023;40:1713–20. https://doi.org/10.1007/s10815-023-02816-w.

Article  PubMed  PubMed Central  Google Scholar 

Pereza N, Ostojic S, Kapovic M, et al. Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion. Fertil Steril. 2017;107:150–159.e2. https://doi.org/10.1016/j.fertnstert.2016.10.007.

Article  PubMed  Google Scholar 

Laisk T, Soares ALG, Ferreira T, et al. The genetic architecture of sporadic and multiple consecutive miscarriage. Nat Commun. 2020;11:5980. https://doi.org/10.1038/s41467-020-19742-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Drozdov GV, Kashevarova AA, Lebedev IN. Copy number variations in spontaneous abortions: a meta-analysis. J Assist Reprod Genet. 2025. https://doi.org/10.1007/s10815-025-03420-w.

Article  PubMed  Google Scholar 

Chen Y, Bartanus J, Liang D, et al. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017;38:669–77. https://doi.org/10.1002/humu.23207.

Article  CAS  PubMed  Google Scholar 

Zeng W, Qi H, Du Y, et al. 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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shamseldin HE, Swaid A, Alkuraya FS. Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing. Genet Med. 2013;15:307–9. https://doi.org/10.1038/gim.2012.130.

Article  CAS  PubMed  Google Scholar 

Filges I, Nosova E, Bruder E, et al. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet. 2014;86:220–8. https://doi.org/10.1111/cge.12301.

Article  CAS  PubMed  Google Scholar 

Ellard S, Kivuva E, Turnpenny P, et al. An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015;23:401–4. https://doi.org/10.1038/ejhg.2014.120.

Article  CAS  PubMed  Google Scholar 

Filges I, Manokhina I, Penaherrera MS, et al. Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. Mol Hum Reprod. 2015;21:339–46. https://doi.org/10.1093/molehr/gau112.

Article  CAS  PubMed