Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses

1. Macklon NS, Geraedts JPM, Fauser BCJM. Conception to ongoing pregnancy: the “black box” of early pregnancy loss. Hum Reprod Update. 2002;8:333–343. Macklon NS Geraedts JPM Fauser BCJM. Conception to ongoing pregnancy: the “black box” of early pregnancy loss . Hum Reprod Update . 2002 ; 8 : 333 – 343 . Search in Google Scholar

2. Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Reviews in obstetrics and gynecology. 2009;2(2):76. Ford HB Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy . Reviews in obstetrics and gynecology . 2009 ; 2 ( 2 ): 76 . Search in Google Scholar

3. 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. 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 . Search in Google Scholar

4. 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. 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 . Search in Google Scholar

5. 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. 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 . Search in Google Scholar

6. 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. 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 . Search in Google Scholar

7. Rajcan-Separovic E. Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. Eur J Med Genet. 2020;63:103644. Rajcan-Separovic E. Next generation sequencing in recurrent pregnancy loss-approaches and outcomes . Eur J Med Genet . 2020 ; 63 : 103644 . Search in Google Scholar

8. 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. Zhao C Chai H Zhou Q 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 . Search in Google Scholar

9. 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. Al Qahtani NH AbdulAzeez S Almandil NB Whole-genome sequencing reveals exonic variation of ASIC5 gene results in recurrent pregnancy loss . Front Med (Lausanne) . 2021 ; 8 : 699672 . Search in Google Scholar

10. Buonaiuto S, Biase ID, Aleotti V, et al. Prioritization of putatively detrimental variants in euploid miscarriages. Sci Rep. 2022;12:1997. Buonaiuto S Biase ID Aleotti V Prioritization of putatively detrimental variants in euploid miscarriages . Sci Rep . 2022 ; 12 : 1997 . Search in Google Scholar

11. Kline J, Vardarajan B, Abhyankar A, et al. Embryonic lethal genetic variants and chromosomally normal pregnancy loss. Fertil Steril. 2021;116:1351-1358. Kline J Vardarajan B Abhyankar A Embryonic lethal genetic variants and chromosomally normal pregnancy loss . Fertil Steril . 2021 ; 116 : 1351 - 1358 . Search in Google Scholar

12. 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. 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 . Search in Google Scholar

13. 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. 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 . Search in Google Scholar

14. 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 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 . Search in Google Scholar

15. 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. 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 . Search in Google Scholar

16. 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. 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 . Search in Google Scholar

17. 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. 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 . Search in Google Scholar

18. 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. 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 . Search in Google Scholar

19. 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. 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 . Search in Google Scholar

20. 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. 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 . Search in Google Scholar

21. 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. 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 . Search in Google Scholar

22. 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. 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 . Search in Google Scholar

23. 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. 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 . Search in Google Scholar

24. 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). 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 ). Search in Google Scholar

25. 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. 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 . Search in Google Scholar

26. 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. 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 . Search in Google Scholar

27. 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. 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 . Search in Google Scholar

28. 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. 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 . Search in Google Scholar

29. 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. 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 . Search in Google Scholar

30. Kuna M, Soares MJ. Cited2 is a key regulator of placental development and plasticity. BioEssays. 2024 Aug;46(8):2300118. Kuna M Soares MJ. Cited2 is a key regulator of placental development and plasticity . BioEssays . 2024 Aug ; 46 ( 8 ): 2300118 . Search in Google Scholar

31. 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. 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 . Search in Google Scholar

32. 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. 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 . Search in Google Scholar

33. 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. 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 . Search in Google Scholar

34. 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. 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 . Search in Google Scholar

35. 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 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 . Search in Google Scholar

36. 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. 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 . Search in Google Scholar

37. 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. 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 . Search in Google Scholar

38. 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. 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 . Search in Google Scholar

39. 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. 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 . Search in Google Scholar

40. 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. 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 . Search in Google Scholar

41. 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. 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 . Search in Google Scholar

42. 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. 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 . Search in Google Scholar