دورية أكاديمية
أعرض في EDS

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study.

التفاصيل البيبلوغرافية
العنوان: Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study.
المؤلفون: Popescu-Hobeanu G; Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Riza AL; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Streață I; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Tudorache Ș; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania., Comănescu A; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania., Tănase F; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania., Drăgușin RC; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania., Pascu C; Gyn Med Clinic, 200074 Craiova, Romania., Dijmărescu AL; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Clinical Municipal Hospital 'Filantropia' of Craiova, 200143 Craiova, Romania., Cara ML; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania.; Department of Public Health, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Dorobanțu Ș; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Petre-Mandache B; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Cucu M; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Sosoi SS; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Ioana M; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania., Iliescu D; Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.; Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania., Burada F; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania.
المصدر: Genes [Genes (Basel)] 2022 Nov 29; Vol. 13 (12). Date of Electronic Publication: 2022 Nov 29.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Trisomy* , Abortion, Spontaneous*/genetics, Pregnancy ; Humans ; Female ; Pregnancy Trimester, First/genetics ; Retrospective Studies ; Cohort Studies ; Romania ; Chromosome Aberrations ; Karyotyping ; Cytogenetic Analysis ; Polymerase Chain Reaction/methods
مستخلص: It is well known that first-trimester miscarriages are associated with chromosome abnormalities, with numerical chromosome abnormalities being the ones most commonly detected. Conventional karyotyping is still considered the gold standard in the analysis of products of conception, despite the extended use of molecular genetic techniques. However, conventional karyotyping is a laborious and time-consuming method, with a limited resolution of 5-10 Mb and hampered by maternal cell contamination and culture failure. The aim of our study was to assess the type and frequency of chromosomal abnormalities detected by conventional karyotyping in specimens of sporadic first-trimester miscarriages in a Romanian cohort, using QF-PCR to exclude maternal cell contamination. Long-term cultures were established and standard protocols were applied for cell harvesting, slide preparation, and GTG banding. All samples with 46,XX karyotype were tested for maternal cell contamination by QF-PCR, comparing multiple microsatellite markers in maternal blood with cell culture and tissue samples. Out of the initial 311 specimens collected from patients with sporadic first-trimester miscarriages, a total of 230 samples were successfully analyzed after the exclusion of 81 specimens based on unsuitable sampling, culture failure, or QF-PCR-proven maternal cell contamination. Chromosome abnormalities were detected in 135 cases (58.7%), with the most common type being single autosomal trisomy (71/135-52.6%), followed by monosomy (monosomy X being the only one detected, 24/135-17.8%), and polyploidy (23/135-17.0%). The subgroup analysis based on maternal age showed a statistically significant higher rate of single trisomy for women aged 35 years or older (40.3%) compared to the young maternal age group (26.1%) ( p = 0.029). In conclusion, the combination of conventional karyotyping and QF-PCR can lead to an increased chromosome abnormality detection rate in first-trimester miscarriages. Our study provides reliable information for the genetic counseling of patients with first-trimester miscarriages, and further large-scale studies using different genetic techniques are required.
Competing Interests: The authors declare no conflicts of interest.
References: Fertil Steril. 1999 Apr;71(4):715-8. (PMID: 10202884)
Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):106-111. (PMID: 33605623)
Mol Cytogenet. 2011 May 09;4:13. (PMID: 21554683)
Transl Pediatr. 2015 Apr;4(2):189-200. (PMID: 26835373)
Am J Med Genet. 1994 Dec 1;53(4):307-16. (PMID: 7864038)
Semin Reprod Med. 2011 Nov;29(6):482-90. (PMID: 22161461)
Hum Reprod. 2012 Oct;27(10):3109-17. (PMID: 22888165)
BJOG. 2018 Mar;125(4):414-420. (PMID: 29220118)
Am J Hum Genet. 1997 Jul;61(1):23-32. (PMID: 9245981)
J Assist Reprod Genet. 2019 Apr;36(4):749-757. (PMID: 30739229)
J Reprod Immunol. 2022 Feb;149:103466. (PMID: 34929495)
J Assist Reprod Genet. 2018 Feb;35(2):265-271. (PMID: 29086320)
Obstet Gynecol Sci. 2014 Nov;57(6):518-25. (PMID: 25469342)
Mol Cytogenet. 2014 Jun 24;7:43. (PMID: 25013457)
Arch Gynecol Obstet. 2021 Jun;303(6):1425-1432. (PMID: 33211176)
Biomed Hub. 2016 Apr 27;1(1):1-11. (PMID: 31988885)
Semin Reprod Med. 2012 Aug;30(4):289-301. (PMID: 22723010)
Hum Genet. 1985;70(1):11-7. (PMID: 3997148)
Fertil Steril. 1980 Feb;33(2):107-16. (PMID: 7353685)
BMC Microbiol. 2018 Nov 26;18(1):197. (PMID: 30477439)
Hum Genet. 1999 Apr;104(4):345-9. (PMID: 10369165)
Mol Cytogenet. 2014 May 22;7:33. (PMID: 24914406)
Ann Hum Genet. 1997 Nov;61(Pt 6):471-83. (PMID: 9543547)
Mutat Res. 1997 Dec 12;396(1-2):129-40. (PMID: 9434864)
Am J Hum Genet. 1990 Oct;47(4):656-63. (PMID: 2220806)
Acta Obstet Gynecol Scand. 2005 Nov;84(11):1103-7. (PMID: 16232180)
BJOG. 2009 Sep;116(10):1315-24. (PMID: 19538417)
Pediatrics. 2004 Apr;113(4 Suppl):957-68. (PMID: 15060188)
Reprod Med Biol. 2020 Oct 08;20(1):71-75. (PMID: 33488285)
Ann Hum Genet. 1980 Oct;44(2):151-78. (PMID: 7316468)
Cytogenet Cell Genet. 2000;88(3-4):230-5. (PMID: 10828596)
Environ Mol Mutagen. 1996;28(3):167-75. (PMID: 8908177)
Einstein (Sao Paulo). 2021 Jun 18;19:eAO5945. (PMID: 34161437)
Clin Obstet Gynecol. 2016 Sep;59(3):474-86. (PMID: 27403585)
Int J Epidemiol. 2012 Apr;41(2):405-13. (PMID: 22253313)
F1000Res. 2016 Aug 26;5:2083. (PMID: 28003878)
Exp Ther Med. 2020 Apr;19(4):2505-2510. (PMID: 32256728)
Am J Hum Genet. 2019 Dec 5;105(6):1102-1111. (PMID: 31679651)
Mol Cytogenet. 2021 Dec 4;14(1):56. (PMID: 34863241)
Obstet Gynecol. 2004 Oct;104(4):784-8. (PMID: 15458902)
Cytogenet Genome Res. 2017;152(2):81-89. (PMID: 28662500)
Curr Opin Obstet Gynecol. 2001 Jun;13(3):287-91. (PMID: 11396652)
J Obstet Gynaecol Res. 2004 Jun;30(3):237-41. (PMID: 15210050)
Am J Hum Genet. 2000 May;66(5):1516-21. (PMID: 10741955)
Aust N Z J Obstet Gynaecol. 2013 Feb;53(1):51-7. (PMID: 23405996)
Prenat Diagn. 1998 Jul;18(7):737-41. (PMID: 9706657)
Ann Hum Genet. 1980 Jul;44(1):29-36. (PMID: 7198887)
Hum Genet. 2014 Apr;133(4):417-24. (PMID: 24477775)
Fertil Steril. 1995 Aug;64(2):382-91. (PMID: 7615118)
Hum Reprod Update. 2019 Jul 1;25(4):452-472. (PMID: 31150545)
Mol Cytogenet. 2014 Jun 05;7:38. (PMID: 24976865)
Genet Med. 2005 Apr;7(4):251-63. (PMID: 15834243)
Prenat Diagn. 2000 Jul;20(7):582-6. (PMID: 10913958)
Cytogenet Genome Res. 2021;161(3-4):120-131. (PMID: 33975305)
Hum Reprod. 1987 Nov;2(8):735-9. (PMID: 3325524)
Int J Gynaecol Obstet. 2009 Mar;104(3):243-4. (PMID: 19036372)
Am J Reprod Immunol. 2004 Jul;52(1):88-96. (PMID: 15214948)
فهرسة مساهمة: Keywords: QF-PCR; chromosome abnormality; first-trimester miscarriage; karyotype; maternal cell contamination
تواريخ الأحداث: Date Created: 20221223 Date Completed: 20221226 Latest Revision: 20230109
رمز التحديث: 20230110
مُعرف محوري في PubMed: PMC9778060
DOI: 10.3390/genes13122246
PMID: 36553513
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes13122246