Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome
Copyright© by Editorial Board of Journal of Sichuan University (Medical Sciences)..
OBJECTIVE: To explore the application of array-based comparative genomic hybridization (a-CGH) technology in the prenatal diagnostic assessment of abnormal serological prenatal screening results of Down's syndrome (DS).
METHODS: A total of 3 578 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal serological prenatal screening results were selected. The samples were categorized into 3 groups, 2 624 in the high-risk group, 662 in the borderline-risk group, and 292 in the abnormal multiple of median (MoM) group. a-CGH was performed on the Agilent CGX ™ (8×60K) platform and the data were analyzed by the Genoglyphix ® software.
RESULTS: The overall detection rate of chromosomal abnormalities was 3.38% (121/3 578). Among the chromosomal abnormalities, 49.59% (60/121) was aneuploidies, 42.15% (51/121) was pathogenic copy number variants (pCNVs), and 8.26% (10/121) was likely pathogenic CNVs (lpCNVs). The detection rate of copy number variant of uncertain significance (VUS) was 1.03% (37/3 578). In the high-risk, the borderline-risk and the abnormal MoM groups, the detection rate of chromosomal abnormalities was 3.54% (93/2 624), 2.87% (19/662) and 3.08% (9/292), respectively; the detection rate of p/lp CNVs was 1.64% (43/2 624), 1.81% (12/662) and 2.05% (6/292), respectively; the detection rate of trisomy 21 and trisomy 18 was 1.37% (36/2 624), 0.76% (5/662) and 0.34% (1/292) in the three groups, respectively. There were no significant differences in all the detection rate among these groups ( P>0.05). One sample with X(51)/XYY(49) confirmed by fluorescence in situ hybridization (FISH) was misdiagnosed by a-CGH.
CONCLUSION: Prenatal diagnosis with a-CGH is of great significance for reducing birth defects in pregnancies with abnormal serological prenatal screening results of DS. It can also be used to detect CNVs of microdeletion/microduplication syndromes.
| 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), 2 vom: 21. März, Seite 319-325 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Hu, Rui [VerfasserIn] |
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| Links: |
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| Themen: |
Array-based comparative genomic hybridization |
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| Anmerkungen: |
Date Completed 09.04.2021 Date Revised 29.08.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.12182/20210360602 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM323849687 |
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| 245 | 1 | 0 | |a Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Completed 09.04.2021 | ||
| 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 explore the application of array-based comparative genomic hybridization (a-CGH) technology in the prenatal diagnostic assessment of abnormal serological prenatal screening results of Down's syndrome (DS) | ||
| 520 | |a METHODS: A total of 3 578 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal serological prenatal screening results were selected. The samples were categorized into 3 groups, 2 624 in the high-risk group, 662 in the borderline-risk group, and 292 in the abnormal multiple of median (MoM) group. a-CGH was performed on the Agilent CGX ™ (8×60K) platform and the data were analyzed by the Genoglyphix ® software | ||
| 520 | |a RESULTS: The overall detection rate of chromosomal abnormalities was 3.38% (121/3 578). Among the chromosomal abnormalities, 49.59% (60/121) was aneuploidies, 42.15% (51/121) was pathogenic copy number variants (pCNVs), and 8.26% (10/121) was likely pathogenic CNVs (lpCNVs). The detection rate of copy number variant of uncertain significance (VUS) was 1.03% (37/3 578). In the high-risk, the borderline-risk and the abnormal MoM groups, the detection rate of chromosomal abnormalities was 3.54% (93/2 624), 2.87% (19/662) and 3.08% (9/292), respectively; the detection rate of p/lp CNVs was 1.64% (43/2 624), 1.81% (12/662) and 2.05% (6/292), respectively; the detection rate of trisomy 21 and trisomy 18 was 1.37% (36/2 624), 0.76% (5/662) and 0.34% (1/292) in the three groups, respectively. There were no significant differences in all the detection rate among these groups ( P>0.05). One sample with X(51)/XYY(49) confirmed by fluorescence in situ hybridization (FISH) was misdiagnosed by a-CGH | ||
| 520 | |a CONCLUSION: Prenatal diagnosis with a-CGH is of great significance for reducing birth defects in pregnancies with abnormal serological prenatal screening results of DS. It can also be used to detect CNVs of microdeletion/microduplication syndromes | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Array-based comparative genomic hybridization | |
| 650 | 4 | |a Chromosome microarray analysis | |
| 650 | 4 | |a Copy number variants | |
| 650 | 4 | |a Prenatal diagnosis | |
| 650 | 4 | |a Serological prenatal screening | |
| 700 | 1 | |a Hu, Ting |e verfasserin |4 aut | |
| 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 Wang, He |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Shan-Ling |e verfasserin |4 aut | |
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