Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses
References
- Macklon NS, Geraedts JPM, Fauser BCJM. Conception to ongoing pregnancy: the “black box” of early pregnancy loss. Hum Reprod Update. 2002;8:333–343.
- Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Reviews in obstetrics and gynecology. 2009;2(2):76.
- Turesheva A, Aimagambetova G, Ukybassova T, Marat A, Kanabekova P, Kaldygulova L, Aman-zholkyzy A, Ryzhkova S, Nogay A, Khamidullina Z, Ilmaliyeva A. Recurrent pregnancy loss etiology, risk factors, diagnosis, and management. Fresh look into a full box. Journal of clinical medicine. 2023 Jun 15;12(12):4074.
- Bozhinovski G, Terzikj M, Kubelka-Sabit K, Jasar D, Lazarevski S, Livrinova V, Plaseska-Karanfilska D. Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples. Balkan Journal of Medical Genetics. 2023 Dec 1;26(2):11-20.
- Kubelka-Sabit K, Bozinovski G, Jasar D, Filipovski V, Lazarevski S, Ivanovski M, Plaseska-Karanfilska D. Detection of placental chromosomal aberrations in early spontaneous abortions in correlation with the histologic findings. Macedonian Medical Review. 2017;71(1):64-71.
- Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plases-ka-Karanfilska D. High Incidence of CPLANE1-Re-lated Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses. Balkan Medical Journal. 2024 Mar;41(2):97.
- Rajcan-Separovic E. Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. Eur J Med Genet. 2020;63:103644.
- Zhao C, Chai H, Zhou Q, et al. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genet Med. 2021;23:435-442.
- Al Qahtani NH, AbdulAzeez S, Almandil NB, et al. Whole-genome sequencing reveals exonic variation of ASIC5 gene results in recurrent pregnancy loss. Front Med (Lausanne). 2021;8:699672.
- Buonaiuto S, Biase ID, Aleotti V, et al. Prioritization of putatively detrimental variants in euploid miscarriages. Sci Rep. 2022;12:1997.
- Kline J, Vardarajan B, Abhyankar A, et al. Embryonic lethal genetic variants and chromosomally normal pregnancy loss. Fertil Steril. 2021;116:1351-1358.
- Donaghue C, Mann K, Docherty Z, Mazzaschi R, Fear C, Ogilvie C. Combined QF‐PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis. Prenatal Diagnosis: Published in Affiliation With the International Society for Prenatal Diagnosis. 2010 Feb;30(2):133-7.
- Saxena D, Agarwal M, Gupta D, Agrawal S, Das V, Phadke SR. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception. Journal of postgraduate medicine. 2016 Oct;62(4):239.
- Kubelka-Sabit K, Jasar D, Filipovski V, Bozinovski G, Plaseska-Karanfilska D. Molecular and histological characteristics of early triploid and partial molar pregnancies. Polish Journal of Pathology. 2017 Sep 1;68(2):138-43.
- Kubelka-Sabit KB, Prodanova I, Jasar D, Bozinovski G, Filipovski V, Drakulevski S, Plaseska-Karanfilska D. Molecular and immunohistochemical characteristics of complete hydatidiform moles. Balkan Journal of Medical Genetics. 2017 Jun 30;20(1):27-34.
- Noveski P, Terzic M, Vujovic M, Kuzmanovska M, Sukarova Stefanovska E, Plaseska-Karanfilska D. Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies. Plos one. 2019 Aug 20;14(8):e0221227.
- Thomas PD, Ebert D, Muruganujan A, Mushayahama T, Albou LP, Mi H. PANTHER: Making genome‐ scale phylogenetics accessible to all. Protein Science. 2022 Jan;31(1):8-22.
- Liao N, Zhang Z, Liu X, Wang J, Hu R, Xiao L, Yang Y, Lai Y, Zhu H, Li L, Liu S. A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. Frontiers in Genetics. 2023 Jun 29;14:1203891.
- Xiang J, Ding Y, Tang H, Zhang W, Mao J, He Q, Zhang Q, Wang T. Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing. Orphanet Journal of Rare Diseases. 2024 Sep 9;19(1):330.
- Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJ, Koeck RM, von Rango U, Brandts L, Deligi-annis SP, Nikitina TV, Sazhenova EA. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. Nature Medicine. 2023 Dec;29(12):3233-42.
- 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. Cytogenetic and genome research. 2017 Feb 1;152(2):81-9.
- Wang Y, Li Y, Chen Y, Zhou R, Sang Z, Meng L, Tan J, Qiao F, Bao Q, Luo D, Peng C. Systematic analysis of copy‐number variations associated with early pregnancy loss. Ultrasound in Obstetrics & Gynecology. 2020 Jan;55(1):96-104.
- Fan L, Wu J, Wu Y, Shi X, Xin X, Li S, Zeng W, Deng D, Feng L, Chen S, Xiao J. Analysis of chromosomal copy number in first-trimester pregnancy loss using next-generation sequencing. Frontiers in Genetics. 2020 Oct 20;11:545856.
- Shen Y, Zhang W, Hua P, Qian F. Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses. Alternative Therapies in Health & Medicine. 2024 Oct 1;30(10).
- Wang Y, Li Y, Chen Y, Zhou R, Sang Z, Meng L, Tan J, Qiao F, Bao Q, Luo D, Peng C. Systematic analysis of copy‐number variations associated with early pregnancy loss. Ultrasound in Obstetrics & Gynecology. 2020 Jan;55(1):96-104.
- Wu X, Su L, Xie X, He D, Chen X, Wang M, Wang L, Zheng L, Xu L. Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center. Molecular Cytogenetics. 2021 Dec;14:1-8.
- Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J. Reproductive outcomes in individuals with chromosomal reciprocal translocations. Genetics in Medicine. 2021 Sep;23(9):1753-60.
- Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Disease Models & Mechanisms. 2011 Sep 1;4(5):659-72.
- Coste T, Vincent‐Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leuteneg-ger AL, Jouannic JM, Héron D. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. Prenatal diagnosis. 2022 May;42(5):601-10.
- Kuna M, Soares MJ. Cited2 is a key regulator of placental development and plasticity. BioEssays. 2024 Aug;46(8):2300118.
- Davalieva K, Bozhinovski G, Kiprijanovska S, Kubelka‐Sabit K, Plaseska‐Karanfilska D. Proteomics analysis of human chorionic villi reveals dysregulated pathways that contribute to recurrent pregnancy loss. PROTEOMICS–Clinical Applications. 2024 Nov;18(6):e202400020.
- Ni X, Li X, Guo Y, Zhou T, Guo X, Zhao C, Lin M, Zhou Z, Shen R, Guo X, Ling X. Quantitative proteomics analysis of altered protein expression in the placental villous tissue of early pregnancy loss using isobaric tandem mass tags. BioMed research international. 2014;2014(1):647143.
- Xin L, Xu B, Ma L, Hou Q, Ye M, Meng S, Ding X, Ge W. Proteomics study reveals that the dysregulation of focal adhesion and ribosome contribute to early pregnancy loss. PROTEOMICS–Clinical Applications. 2016 May;10(5):554-63.
- Li J, Wang L, Ding J, Cheng Y, Diao L, Li L, Zhang Y, Yin T. Multiomics studies investigating recurrent pregnancy loss: an effective tool for mechanism exploration. Frontiers in immunology. 2022 Apr 27;13:826198.
- Davalieva K, Terzikj M, Bozhinovski G, Kiprijan-ovska S, Kubelka-Sabit K, Plaseska-Karanfilska D. Comparative proteomics analysis of decidua reveals altered RNA processing and impaired ribosome function in recurrent pregnancy loss. Placenta. 2024 Jun 8;154:28-37.
- Davalieva K, Kocarev D, Plaseska-Karanfilska D. Decoding recurrent pregnancy loss: insights from comparative proteomics studies. Biology of Reproduction. 2025 Jan;112(1):1-7.
- Priya PK, Mishra VV, Roy P, Patel H. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. Journal of human reproductive sciences. 2018 Oct 1;11(4):337-42.
- Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J. Reproductive outcomes in individuals with chromosomal reciprocal translocations. Genetics in Medicine. 2021 Sep;23(9):1753-60.
- Boormans EM, Birnie E, Wildschut HI, Schuring-Blom HG, Oepkes D, van Oppen CA, Nijhuis JG, Macville MV, Kooper AJ, Huijsdens K, Hoffer MV. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the MAKE study. BMC Pregnancy and Childbirth. 2008 Dec;8:1-5.
- Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupré PF, Lemarié CA, Couturaud F, Le Maréchal C. Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage. Reproductive BioMedicine Online. 2021 Apr 1;42(4):789-98.
- Fu M, Mu S, Wen C, Jiang S, Li L, Meng Y, Peng H. Whole exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion. Molecular medicine reports. 2018 Aug 1;18(2):2027-32.
- Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O’Donnell-Luria A, Babic M, Frank MS, Feng J, Wang P. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine. 2023 Jan;29(1):180-9.
DOI: https://doi.org/10.2478/bjmg-2024-0014 | Journal eISSN: 2199-5761
Language: English
Page range: 23 - 32
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year
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© 2025 Gj Bozhinovski, M Terzikj, K Kubelka-Sabit, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.