Application of Array-based Comparative Genomic Hybridization in the Prenatal Diagnosis of Fetal Chromosomal Aberration in Gravidas with Advanced Age
Copyright© by Editorial Board of Journal of Sichuan University (Medical Sciences)..
OBJECTIVE: To evaluate the clinical application of array-based comparative genomic hybridization (a-CGH) in the prenatal diagnosis of fetal chromosomal aberrations in gravidas with advanced maternal age (AMA).
METHODS: A total of 3 677 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to AMA were selected. Array-CGH was performed on the Agilent CGX TM (8X60K) platform and the data were analyzed by the Genoglyphix software.
RESULTS: The overall detection rate of chromosomal aberration was 2.04% (75/3677), with 53.33% (40/75) being aneuploidies, including 22 cases of trisomy-21, 5 cases of trisomy-18, 8 cases with XXY, 3 cases of XYY and 2 cases of mosaic monosomy X, 32.00% (24/75) being pathogenic copy number variations (pCNVs), including 19 cases of microdeletion and 5 cases of microduplication, with the fragment size ranging from 323 kb to 26 780 kb, and 14.67% (11/75) being likely pathogenic CNVs (lpCNVs), including 7 cases of microdeletion and 7 cases of microduplication, with the fragment size ranging from 358 kb to 16 873 kb. Besides, the detection rate of CNVs of unknown clinical significance (VUS) was 0.84% (31/3 677). The detection rate of aneuploidies increased significantly with increased maternal age ( P<0.05). However, there were no significant differences in the detection rate of p/lpCNVs among different maternal age groups ( P>0.05).
CONCLUSION: Our findings suggest that, compared with traditional karyotype analysis, a-CGH not only detects aneuploidies, but also detect pathogenic CNVs, including microdeletion/microduplication syndromes. The detection rate of fetal aneuploidies was closely correlated to maternal age. However, no correlation was found between the detection rate of p/lpCNVs and maternal age.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:52 |
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| Enthalten in: |
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 52(2021), 1 vom: 22. Jan., Seite 117-123 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Hu, Rui [VerfasserIn] |
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| Links: |
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| Themen: |
Advanced maternal age |
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| Anmerkungen: |
Date Completed 22.01.2021 Date Revised 29.08.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.12182/20210160601 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM320372448 |
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| 100 | 1 | |a Hu, Rui |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Application of Array-based Comparative Genomic Hybridization in the Prenatal Diagnosis of Fetal Chromosomal Aberration in Gravidas with Advanced Age |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Completed 22.01.2021 | ||
| 500 | |a Date Revised 29.08.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright© by Editorial Board of Journal of Sichuan University (Medical Sciences). | ||
| 520 | |a OBJECTIVE: To evaluate the clinical application of array-based comparative genomic hybridization (a-CGH) in the prenatal diagnosis of fetal chromosomal aberrations in gravidas with advanced maternal age (AMA) | ||
| 520 | |a METHODS: A total of 3 677 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to AMA were selected. Array-CGH was performed on the Agilent CGX TM (8X60K) platform and the data were analyzed by the Genoglyphix software | ||
| 520 | |a RESULTS: The overall detection rate of chromosomal aberration was 2.04% (75/3677), with 53.33% (40/75) being aneuploidies, including 22 cases of trisomy-21, 5 cases of trisomy-18, 8 cases with XXY, 3 cases of XYY and 2 cases of mosaic monosomy X, 32.00% (24/75) being pathogenic copy number variations (pCNVs), including 19 cases of microdeletion and 5 cases of microduplication, with the fragment size ranging from 323 kb to 26 780 kb, and 14.67% (11/75) being likely pathogenic CNVs (lpCNVs), including 7 cases of microdeletion and 7 cases of microduplication, with the fragment size ranging from 358 kb to 16 873 kb. Besides, the detection rate of CNVs of unknown clinical significance (VUS) was 0.84% (31/3 677). The detection rate of aneuploidies increased significantly with increased maternal age ( P<0.05). However, there were no significant differences in the detection rate of p/lpCNVs among different maternal age groups ( P>0.05) | ||
| 520 | |a CONCLUSION: Our findings suggest that, compared with traditional karyotype analysis, a-CGH not only detects aneuploidies, but also detect pathogenic CNVs, including microdeletion/microduplication syndromes. The detection rate of fetal aneuploidies was closely correlated to maternal age. However, no correlation was found between the detection rate of p/lpCNVs and maternal age | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Advanced maternal age | |
| 650 | 4 | |a Aneuploidy | |
| 650 | 4 | |a Array-based comparative genomic hybridization | |
| 650 | 4 | |a Chromosome microarray analysis | |
| 650 | 4 | |a Copy number variation | |
| 650 | 4 | |a Prenatal diagnosis | |
| 700 | 1 | |a Zhang, Zhu |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Jia-Min |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Qin-Qin |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Yun-Yuan |e verfasserin |4 aut | |
| 700 | 1 | |a Xiao, Li-Ke |e verfasserin |4 aut | |
| 700 | 1 | |a Zhu, Hong-Mei |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Ling-Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Li-Li |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Shan-Ling |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, He |e verfasserin |4 aut | |
| 700 | 1 | |a Hu, Ting |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition |d 2003 |g 52(2021), 1 vom: 22. Jan., Seite 117-123 |w (DE-627)NLM126647062 |x 1672-173X |7 nnns |
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