Academic Journal
Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.
| Τίτλος: | Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG. |
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| 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. |
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| 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 |
| ISSN: | 2633-8386 |
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| DOI: | 10.1530/RAF-22-0092 |