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Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.

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Τίτλος: Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.
Συγγραφείς: Gajjar K; K Gajjar, Department of Zoology, Gujarat University, Ahmedabad, India., Patel A; A Patel, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India., Patel B; B Patel, Gynob Sonoscan and Fetal Medicine Centre, C/o. Shachi Women's Hospital, Ahmedabad, India., Chettiar S; S Chettiar, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India., Jhala D; D Jhala, Department of Zoology, Biomedical Technology and Human Genetics, Ahmedabad, 380009, India.
Πηγή: Reproduction & fertility [Reprod Fertil] 2026 Apr 21; Vol. 4 (2). Date of Electronic Publication: 2026 Apr 21.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: BioScientifica Country of Publication: England NLM ID: 101778727 Publication Model: Electronic Cited Medium: Internet ISSN: 2633-8386 (Electronic) Linking ISSN: 26338386 NLM ISO Abbreviation: Reprod Fertil Subsets: MEDLINE
Imprint Name(s): Original Publication: [Bristol] : BioScientifica, [2020]-
Ιατρικοί όροι (MeSH): Abortion, Habitual*/genetics , Abortion, Habitual*/diagnostic imaging , Comparative Genomic Hybridization*/methods , Chromosome Aberrations* , Ultrasonography, Prenatal*, Humans ; Female ; Pregnancy ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Karyotyping ; Adult
Περίληψη: To evaluate the proportion of chromosomal abnormalities in recurrent pregnancy loss (RPL) assisted by array comparative genomic hybridization (aCGH) bright out with higher detection rate, more accuracy, and less sample failure as compared with conventional cytogenetic analysis. In this study, product of conception samples with abnormal USG findings of the fetus and clinical history of RPL were first processed for karyotyping and Fluorescence In Situ Hybridization analysis. Normal results given by Karyotype and FISH samples with major anomalies detected by Ultrasound with RPL were divided into six groups and aCGH was performed to detect the gain or loss and copy number variations (CNVs) of a particular gene present in chromosomal segments. Among a total of 300 POC samples, 100 abnormal samples were identified either by karyotype (n=70) or by FISH (n=30). From the remaining 200 samples, 5 showed the presence of maternal cell contamination excluded. aCGH analysis revealed (n=195) that 74 (38%) samples with copy number variations (CNVs) and two samples with variants of unknown clinical significance (VOUS) were clinically associated with the clinical findings and 121(62%) samples showed no change in CNVs. The most frequent CNVs were loss of chromosome regions at 2q33.1, 7q11.21, 15q11.1, 16p11.2, Xp22.33, and Yp11.32. CNVs at arr[GRCh37]7p22.3,p21.2(830852-15124702)×1,7q34q36.3(141464180_158909738)×3, 14.2Mbp deletion of 7p22.3p21.2 (SUN1 gene) and 17.4Mbp duplication of 7q34q36.3 (KCNH2, CNTNAP2, and SHH genes) in one sample, CNVs at arr[GRCh37]8p22.2q22.3 (86326349_105509986)×1, 2.48Mbp deletion of 8p22.2q22.3 (GRHL1 gene) were found in another sample.
References: Prenat Diagn. 2011 Oct;31(10):932-44. (PMID: 21732394)
Prenat Diagn. 2005 Oct;25(10):894-900. (PMID: 16088865)
Curr Protoc Hum Genet. 2009 Jan;Chapter 8:Unit 8.5. (PMID: 19170032)
Obstet Gynecol. 2009 Nov;114(5):1093-1102. (PMID: 20168112)
Prenat Diagn. 2012 Oct;32(10):986-95. (PMID: 22847778)
J Assist Reprod Genet. 2002 Nov;19(11):536-8. (PMID: 12484496)
Am J Hum Genet. 2000 May;66(5):1516-21. (PMID: 10741955)
Springerplus. 2016 Jun 24;5(1):874. (PMID: 27386323)
J Med Genet. 2009 Aug;46(8):531-41. (PMID: 19451135)
Mol Cytogenet. 2014 Jun 24;7:43. (PMID: 25013457)
Diagn Mol Pathol. 2013 Dec;22(4):228-35. (PMID: 24193007)
Prenat Diagn. 2012 Apr;32(4):371-5. (PMID: 22467168)
BJOG. 2014 Jan;121(1):11-21. (PMID: 23859082)
Aust N Z J Obstet Gynaecol. 2003 Feb;43(1):16-26. (PMID: 12755342)
Ultrasound Obstet Gynecol. 2015 Oct;46(4):478-86. (PMID: 25846569)
Biochim Biophys Acta. 2012 Dec;1822(12):1951-9. (PMID: 22796359)
J Appl Genet. 2013 Aug;54(3):353-9. (PMID: 23780398)
Hum Genet. 1978 Dec 18;45(2):137-65. (PMID: 738718)
Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46. (PMID: 23897843)
Am J Med Genet A. 2009 Nov;149A(11):2437-43. (PMID: 19876905)
Am J Hum Genet. 2004 Jun;74(6):1168-74. (PMID: 15127362)
Expert Rev Mol Diagn. 2011 Jul;11(6):579-92. (PMID: 21745012)
Entry Date(s): Date Created: 20230324 Date Completed: 20260611 Latest Revision: 20260611
Update Code: 20260612
PubMed Central ID: PMC10160560
DOI: 10.1530/RAF-22-0092
PMID: 36961397
Βάση Δεδομένων: MEDLINE
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  Data: Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.
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  Data: <searchLink fieldCode="AU" term="%22Gajjar+K%22">Gajjar K</searchLink>; K Gajjar, Department of Zoology, Gujarat University, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Patel+A%22">Patel A</searchLink>; A Patel, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Patel+B%22">Patel B</searchLink>; B Patel, Gynob Sonoscan and Fetal Medicine Centre, C/o. Shachi Women's Hospital, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Chettiar+S%22">Chettiar S</searchLink>; S Chettiar, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Jhala+D%22">Jhala D</searchLink>; D Jhala, Department of Zoology, Biomedical Technology and Human Genetics, Ahmedabad, 380009, India.
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  Data: <searchLink fieldCode="JN" term="%22101778727%22">Reproduction & fertility</searchLink> [Reprod Fertil] 2026 Apr 21; Vol. 4 (2). <i>Date of Electronic Publication: </i>2026 Apr 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioScientifica%22">BioScientifica </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101778727 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2633-8386 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226338386%22">26338386 </searchLink><i>NLM ISO Abbreviation: </i>Reprod Fertil <i>Subsets: </i>MEDLINE
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  Data: <i>Original Publication</i>: [Bristol] : BioScientifica, [2020]-
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  Data: <searchLink fieldCode="MM" term="%22Abortion%2C+Habitual%22">Abortion, Habitual*</searchLink>/<searchLink fieldCode="MM" term="%22Abortion%2C+Habitual+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Abortion%2C+Habitual%22">Abortion, Habitual*</searchLink>/<searchLink fieldCode="MM" term="%22Abortion%2C+Habitual+diagnostic+imaging%22">diagnostic imaging</searchLink> <br /><searchLink fieldCode="MM" term="%22Comparative+Genomic+Hybridization%22">Comparative Genomic Hybridization*</searchLink>/<searchLink fieldCode="MM" term="%22Comparative+Genomic+Hybridization+methods%22">methods</searchLink> <br /><searchLink fieldCode="MM" term="%22Chromosome+Aberrations%22">Chromosome Aberrations*</searchLink> <br /><searchLink fieldCode="MM" term="%22Ultrasonography%2C+Prenatal%22">Ultrasonography, Prenatal*</searchLink><br /><searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Female%22">Female</searchLink> ; <searchLink fieldCode="MH" term="%22Pregnancy%22">Pregnancy</searchLink> ; <searchLink fieldCode="MH" term="%22In+Situ+Hybridization%2C+Fluorescence%22">In Situ Hybridization, Fluorescence</searchLink> ; <searchLink fieldCode="MH" term="%22DNA+Copy+Number+Variations%22">DNA Copy Number Variations</searchLink> ; <searchLink fieldCode="MH" term="%22Karyotyping%22">Karyotyping</searchLink> ; <searchLink fieldCode="MH" term="%22Adult%22">Adult</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: To evaluate the proportion of chromosomal abnormalities in recurrent pregnancy loss (RPL) assisted by array comparative genomic hybridization (aCGH) bright out with higher detection rate, more accuracy, and less sample failure as compared with conventional cytogenetic analysis. In this study, product of conception samples with abnormal USG findings of the fetus and clinical history of RPL were first processed for karyotyping and Fluorescence In Situ Hybridization analysis. Normal results given by Karyotype and FISH samples with major anomalies detected by Ultrasound with RPL were divided into six groups and aCGH was performed to detect the gain or loss and copy number variations (CNVs) of a particular gene present in chromosomal segments. Among a total of 300 POC samples, 100 abnormal samples were identified either by karyotype (n=70) or by FISH (n=30). From the remaining 200 samples, 5 showed the presence of maternal cell contamination excluded. aCGH analysis revealed (n=195) that 74 (38%) samples with copy number variations (CNVs) and two samples with variants of unknown clinical significance (VOUS) were clinically associated with the clinical findings and 121(62%) samples showed no change in CNVs. The most frequent CNVs were loss of chromosome regions at 2q33.1, 7q11.21, 15q11.1, 16p11.2, Xp22.33, and Yp11.32. CNVs at arr[GRCh37]7p22.3,p21.2(830852-15124702)×1,7q34q36.3(141464180_158909738)×3, 14.2Mbp deletion of 7p22.3p21.2 (SUN1 gene) and 17.4Mbp duplication of 7q34q36.3 (KCNH2, CNTNAP2, and SHH genes) in one sample, CNVs at arr[GRCh37]8p22.2q22.3 (86326349_105509986)×1, 2.48Mbp deletion of 8p22.2q22.3 (GRHL1 gene) were found in another sample.
– Name: Ref
  Label: References
  Group: RefInfo
  Data: Prenat Diagn. 2011 Oct;31(10):932-44. (PMID: <searchLink fieldCode="PM" term="%2221732394%22">21732394)</searchLink><br />Prenat Diagn. 2005 Oct;25(10):894-900. (PMID: <searchLink fieldCode="PM" term="%2216088865%22">16088865)</searchLink><br />Curr Protoc Hum Genet. 2009 Jan;Chapter 8:Unit 8.5. (PMID: <searchLink fieldCode="PM" term="%2219170032%22">19170032)</searchLink><br />Obstet Gynecol. 2009 Nov;114(5):1093-1102. (PMID: <searchLink fieldCode="PM" term="%2220168112%22">20168112)</searchLink><br />Prenat Diagn. 2012 Oct;32(10):986-95. (PMID: <searchLink fieldCode="PM" term="%2222847778%22">22847778)</searchLink><br />J Assist Reprod Genet. 2002 Nov;19(11):536-8. (PMID: <searchLink fieldCode="PM" term="%2212484496%22">12484496)</searchLink><br />Am J Hum Genet. 2000 May;66(5):1516-21. (PMID: <searchLink fieldCode="PM" term="%2210741955%22">10741955)</searchLink><br />Springerplus. 2016 Jun 24;5(1):874. (PMID: <searchLink fieldCode="PM" term="%2227386323%22">27386323)</searchLink><br />J Med Genet. 2009 Aug;46(8):531-41. (PMID: <searchLink fieldCode="PM" term="%2219451135%22">19451135)</searchLink><br />Mol Cytogenet. 2014 Jun 24;7:43. (PMID: <searchLink fieldCode="PM" term="%2225013457%22">25013457)</searchLink><br />Diagn Mol Pathol. 2013 Dec;22(4):228-35. (PMID: <searchLink fieldCode="PM" term="%2224193007%22">24193007)</searchLink><br />Prenat Diagn. 2012 Apr;32(4):371-5. (PMID: <searchLink fieldCode="PM" term="%2222467168%22">22467168)</searchLink><br />BJOG. 2014 Jan;121(1):11-21. (PMID: <searchLink fieldCode="PM" term="%2223859082%22">23859082)</searchLink><br />Aust N Z J Obstet Gynaecol. 2003 Feb;43(1):16-26. (PMID: <searchLink fieldCode="PM" term="%2212755342%22">12755342)</searchLink><br />Ultrasound Obstet Gynecol. 2015 Oct;46(4):478-86. (PMID: <searchLink fieldCode="PM" term="%2225846569%22">25846569)</searchLink><br />Biochim Biophys Acta. 2012 Dec;1822(12):1951-9. (PMID: <searchLink fieldCode="PM" term="%2222796359%22">22796359)</searchLink><br />J Appl Genet. 2013 Aug;54(3):353-9. (PMID: <searchLink fieldCode="PM" term="%2223780398%22">23780398)</searchLink><br />Hum Genet. 1978 Dec 18;45(2):137-65. (PMID: <searchLink fieldCode="PM" term="%22738718%22">738718)</searchLink><br />Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46. (PMID: <searchLink fieldCode="PM" term="%2223897843%22">23897843)</searchLink><br />Am J Med Genet A. 2009 Nov;149A(11):2437-43. (PMID: <searchLink fieldCode="PM" term="%2219876905%22">19876905)</searchLink><br />Am J Hum Genet. 2004 Jun;74(6):1168-74. (PMID: <searchLink fieldCode="PM" term="%2215127362%22">15127362)</searchLink><br />Expert Rev Mol Diagn. 2011 Jul;11(6):579-92. (PMID: <searchLink fieldCode="PM" term="%2221745012%22">21745012)</searchLink>
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        Value: 10.1530/RAF-22-0092
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: Humans
        Type: general
      – SubjectFull: Female
        Type: general
      – SubjectFull: Pregnancy
        Type: general
      – SubjectFull: In Situ Hybridization, Fluorescence
        Type: general
      – SubjectFull: DNA Copy Number Variations
        Type: general
      – SubjectFull: Karyotyping
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      – SubjectFull: Adult
        Type: general
      – SubjectFull: Abortion, Habitual genetics
        Type: general
      – SubjectFull: Abortion, Habitual diagnostic imaging
        Type: general
      – SubjectFull: Comparative Genomic Hybridization methods
        Type: general
      – SubjectFull: Chromosome Aberrations
        Type: general
      – SubjectFull: Ultrasonography, Prenatal
        Type: general
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      – TitleFull: Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.
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              Text: 2026 Apr 21
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