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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
留言 (0)