References
- Agarkova I. 2010. Non-developing pregnancy: assessment of risk factors and prognosis (review) (Неразвивающаяся беременность: оценка факторов риска и прогнозирование (обзор)). Медицинский Альманах. 4:82–88.
- American College of Medical Genetics and Genomics. 2018. Standards and guidelines for clinical genetics laboratories. 2018 ed, p. 906. Revised January 2018. Available at: https://www.acmg.net/PDFLibrary/Standards-Guidelines-Cytogenetics.pdf.
- Amos J, Feldman GL, Grody WW. 2005. Technical standards and guidelines for CFTR mutation testing. Am Coll Med Genet. doi:https://doi.org/10.1097/01.GIM.0000031065.72493.BC.
- Ari E, Ozdemir O, Djurovic J, Silan F. 2018. Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis. Biomed Genet Genomics. 3(1). doi:https://doi.org/10.15761/bgg.1000136.
- Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG. 2006. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn. 26(4):333–339. doi:https://doi.org/10.1002/pd.1411.
- Behnamfar F, Mahdian M, Rahimi F, Samimi M. 2013. Misoprostol abortion: ultrasonography versus beta-hCG testing for verification of effectiveness. Pak J Med Sci. 29(6). doi:https://doi.org/10.12669/pjms.296.3361.
- Bell KA, Van Deerlin PG, Haddad BR, Feinberg RF. 1999. Cytogenetic diagnosis of “normal 46,XX” karyotypes in spontaneous abortions frequently may be misleading. Fertil Steril. 71(2):334–341. doi:https://doi.org/10.1016/S0015-0282(98)00445-2.
- Berezowsky J, Zbieranowski I, Demers J, Murray D. 1995. DNA ploidy of hydatidiform moles and nonmolar conceptuses: A study using flow and tissue section image cytometry. Mod Pathol: an official journal of the United States and Canadian Academy of Pathology, Inc. 8(7):775-781.
- Bin LS, Xie YJ, Chen Z, Zhou Y, Wu JZ, Zhang ZQ, … Fang Q. 2015. Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception. J Chin Med Assoc. doi:https://doi.org/10.1016/j.jcma.2015.03.010.
- Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Slater HR. 2006. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am J Med Genet A. 140A(24):2786–2793. doi:https://doi.org/10.1002/ajmg.a.31552.
- Davis AR, Horvath SK, Castaño PM. 2017. Trends in gestational age at time of surgical abortion for fetal aneuploidy and structural abnormalities. Am J Obstet Gynecol. 216(3):278.e1–278.e5. doi:https://doi.org/10.1016/j.ajog.2016.10.031.
- De La Rochebrochard E, Thonneau P. 2002. Paternal age and maternal age are risk factors for miscarriage; results of a multicentre European study. Hum Reprod. 17(6):1649–1656. doi:https://doi.org/10.1093/humrep/17.6.1649.
- Donaghue C, Mann K, Docherty Z, Mazzaschi R, Fear C, Ogilvie C. 2010. Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis. Prenat Diagn. 30(2):133–137. doi:https://doi.org/10.1002/pd.2424.
- Dong Y, Yi Y, Yao H, Yang Z, Hu H, Liu J, Liang Z. 2016. Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. BMC Med Genet. 17(1). doi:https://doi.org/10.1186/s12881-016-0286-2.
- Dória S, Lima V, Carvalho B, Moreira ML, Sousa M, Barros A, Carvalho F. 2010. Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. J Assist Reprod Genet. 27(11):657–662. doi:https://doi.org/10.1007/s10815-010-9460-1.
- Eiben B, Bartels I, Bahr-Porsch S, Borgmann S, Gatz G, Gellert G, … Hansmann I. 1990. 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. 47(4):656.
- Evaluation and treatment of recurrent pregnancy loss: A committee opinion. 2012. Fertility and sterility. 98(5):1103-1111. doi:https://doi.org/10.1016/j.fertnstert.2012.06.048.
- Fejgin MD, Pomeranz M, Liberman M, Fishman A, Amiel A. 2005. Fluorescent in situ hybridization: an effective and less costly technique for genetic evaluation of products of conception in pregnancy losses. Acta Obstet Gynecol Scand. 84(9):860–863. doi:https://doi.org/10.1111/j.0001-6349.2005.00757.x.
- Hassold T, Quillen SD, Yamane JA. 1983. Sex ratio in spontaneous abortions. Ann Hum Genet. 47(1):39–47. doi:https://doi.org/10.1111/j.1469-1809.1983.tb00968.x.
- Heazell AEP, Newman L, Lean SC, Jones RL. 2018. Pregnancy outcome in mothers over the age of 35. Curr Opin Obstet Gynecol. 30(6):337–343. doi:https://doi.org/10.1097/GCO.0000000000000494.
- Hedley D, Friedlander M, Taylor I, Rugg C, Musgrave E. 1983. Method for analysis of cellular DNA content of paraffin-embedded pathological material using flow cytometry. J Histochem Cytochem. 31(11):1333–1335. doi:https://doi.org/10.1177/31.11.6619538.
- Hyde KJ, Schust DJ. 2015. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med. 5(3):a023119–a023119. doi:https://doi.org/10.1101/cshperspect.a023119.
- Jarrett KL, Michaelis RC, Phelan MC, Vincent VA, Best RG. 2001. Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material. Am J Obstet Gynecol. 185(1):198–203. doi:https://doi.org/10.1067/mob.2001.114692.
- Karantzali E, Rosmaraki P, Kotsakis A, Le Roux-Le Pajolec MG, Fitsialos G. 2019. The effect of FBI CODIS core STR loci expansion on familial DNA database searching. Forensic Sci Int Genet. 43:102129. doi:https://doi.org/10.1016/j.fsigen.2019.07.008.
- Kovavisarach E, Jamnansiri C. 2005. Intravaginal misoprostol 600 μg and 800 μg for the treatment of early pregnancy failure. Int J Gynecology Obstetrics. 90(3):208–212. doi:https://doi.org/10.1016/j.ijgo.2005.04.016.
- Lathi RB, Gustin SLF, Keller J, Maisenbacher MK, Sigurjonsson S, Tao R, Demko Z. 2014. Reliability of 46,XX results on miscarriage specimens: A review of 1,222 first-trimester miscarriage specimens. Fertil Steril. 101(1):178–182. doi:https://doi.org/10.1016/j.fertnstert.2013.09.031.
- Lathi RB, Loring M, Massie JAM, Demko ZP, Johnson D, Sigurjonsson S, Rabinowitz M. 2012. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics. PLoS ONE. 7(8). doi:https://doi.org/10.1371/journal.pone.0031282.
- Levy B, Sigurjonsson S, Pettersen B, Maisenbacher MK, Hall MP, Demko Z, Rabinowitz M. 2014. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 124(2, PART 1):202–209. doi:https://doi.org/10.1097/AOG.0000000000000325.
- Liu S, Song L, Cram DS, Xiong L, Wang K, Wu R, Yang F. 2015. Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage. Ultrasound Obstetrics Gynecology. 46(4):472–477. doi:https://doi.org/10.1002/uog.14849.
- Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T, Kalousek DK. 2000. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet. 66(5):1516–1521. doi:https://doi.org/10.1086/302878.
- Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC. 2020. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med. doi:https://doi.org/10.1038/s41436-019-0731-7.
- Nagan N, Faulkner NE, Curtis C, Schrijver I (2011). Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses: A report of the association for molecular pathology. J Mol Diagn. doi:https://doi.org/10.1016/j.jmoldx.2010.11.013
- Niinimäki M, Jouppila P, Martikainen H, Talvensaari-Mattila A. 2006. A randomized study comparing efficacy and patient satisfaction in medical or surgical treatment of miscarriage. Fertil Steril. 86(2):367–372. doi:https://doi.org/10.1016/j.fertnstert.2005.12.072.
- Nikitina TV, Lebedev IN, Sukhanova NN, Sazhenova EA, Nazarenko SA. 2005. A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: significance for cytogenetic analysis of prenatal selection factors. Fertil Steril. 83(4):964–972. doi:https://doi.org/10.1016/j.fertnstert.2004.12.009.
- Robberecht C, Pexsters A, Deprest J, Fryns J-P, D’Hooghe T, Vermeesch JR. 2012. Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss. Prenat Diagn. 32(10):933–942. doi:https://doi.org/10.1002/pd.3936.
- Rodgers CS, Creasy MR, Fitchett M, Maliszewska CT, Pratt NR, Waters JJ. 1996. Solid tissue culture for cytogenetic analysis: A collaborative survey for the association of clinical cytogeneticists. J Clin Pathol. 49(8):638–641. doi:https://doi.org/10.1136/jcp.49.8.638.
- Romero ST, Geiersbach KB, Paxton CN, Rose NC, Schisterman EF, Branch DW, Silver RM. 2015. Differentiation of genetic abnormalities in early pregnancy loss. Ultrasound Obstetrics Gynecology. doi:https://doi.org/10.1002/uog.14713.
- Russo R, Sessa AM, Fumo R, Gaeta S. 2016. Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 855 FFPE first trimester abortions. Prenat Diagn. 36(2):186–191. doi:https://doi.org/10.1002/pd.4768.
- Sahoo T, Dzidic N, Strecker MN, Commander S, Travis MK, Doherty C, Hovanes K. 2017. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med. 19(1):83–89. doi:https://doi.org/10.1038/gim.2016.69.
- Saxena D, Agarwal M, Gupta D, Agrawal S, Das V, Phadke SR. 2016. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception. J Postgrad Med. doi:https://doi.org/10.4103/0022-3859.192664.
- Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Martin CL. 2004. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet. 74(6):1168–1174. doi:https://doi.org/10.1086/421250.
- Schlesinger C, Raabe G, Ngo T, Miller K. 1990. Discordant findings in chorionic villus direct preparation and long term culture—mosaicism in the fetus. Prenat Diagn. 10(9):609–612. doi:https://doi.org/10.1002/pd.1970100910.
- Schrijver I, Cherny SC, Zehnder JL. 2007. Testing for maternal cell contamination in prenatal samples: A comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn. doi:https://doi.org/10.2353/jmoldx.2007.070017.
- Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. 2010. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med. 12(2):85–92. doi:https://doi.org/10.1097/GIM.0b013e3181cc75d0.
- Shearer BM, Thorland EC, Carlson AW, Jalal SM, Ketterling RP. 2011. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization. Genet Med. 13(6):545–552. doi:https://doi.org/10.1097/GIM.0b013e31820c685b.
- Shen J, Wu W, Gao C, Ochin H, Qu D, Xie J, … Liu J. 2016. Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology. Mol Cytogenet. doi:https://doi.org/10.1186/s13039-015-0210-z.
- Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M. 1983. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet. 63(4):349–357. doi:https://doi.org/10.1007/BF00274761.
- Volozonoka L, Perminov D, Korņejeva L, Alkšere B, Novikova N, Pīmane EJ, Fodina V. 2018. Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. J Assist Reprod Genet. 35(8):1457–1472. doi:https://doi.org/10.1007/s10815-018-1187-4.
- Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, Madden TL. 2012. Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinform. 13(1):134. doi:https://doi.org/10.1186/1471-2105-13-134.
- Zhang H, Liu W, Chen M, Li Z, Sun X, Wang C. 2016. Implementation of a high-resolution single-nucleotide polymorphism array in analyzing the products of conception. Genet Test Mol Biomarkers. 20(7):352–358. doi:https://doi.org/10.1089/gtmb.2016.0035.
- Zhang YX, Zhang YP, Gu Y, Guan FJ, Li SL, Xie JS, Zhong N. 2009. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH. Clin Genet. 75(2):133–140. doi:https://doi.org/10.1111/j.1399-0004.2008.01131.x.