Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis
OBJECTIVE: To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis.
METHODS: A total of 36 samples were collected, including amniotic fluid, abortion tissue, whole blood, chorionic villi and umbilical cord blood. CNV-seq and STR analysis were carried out to detect microdeletions, microduplications, chromosomal aneuploidies, mosaicisms and triploidies.
RESULTS: Among all samples, 1 was detected with 4p15.1p16.3 and 14q11.1q22.1 duplication, 1 was detected with 19p13.3 deletion, 8 were detected with chromosomal aneuploidies, 4 were detected with mosaicisms, two were detected with triploidies. No definite pathogenic CNVs were detected in 20 samples, which yielded a positive detection rate of 44.44%.
CONCLUSION: As a high-throughput detection method, CNV-seq has the advantages of rapidity, simplicity and high accuracy. It may suit prenatal diagnosis and analysis of abortion factors in combination with STR analysis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:38 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 38(2021), 6 vom: 10. Juni, Seite 577-580 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhang, Yuanbao [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 08.06.2021 Date Revised 08.06.2021 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20200418-00279 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM326442545 |
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| 245 | 1 | 0 | |a Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Completed 08.06.2021 | ||
| 500 | |a Date Revised 08.06.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis | ||
| 520 | |a METHODS: A total of 36 samples were collected, including amniotic fluid, abortion tissue, whole blood, chorionic villi and umbilical cord blood. CNV-seq and STR analysis were carried out to detect microdeletions, microduplications, chromosomal aneuploidies, mosaicisms and triploidies | ||
| 520 | |a RESULTS: Among all samples, 1 was detected with 4p15.1p16.3 and 14q11.1q22.1 duplication, 1 was detected with 19p13.3 deletion, 8 were detected with chromosomal aneuploidies, 4 were detected with mosaicisms, two were detected with triploidies. No definite pathogenic CNVs were detected in 20 samples, which yielded a positive detection rate of 44.44% | ||
| 520 | |a CONCLUSION: As a high-throughput detection method, CNV-seq has the advantages of rapidity, simplicity and high accuracy. It may suit prenatal diagnosis and analysis of abortion factors in combination with STR analysis | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Xu, Xiaolian |e verfasserin |4 aut | |
| 700 | 1 | |a Huang, Cun |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Yong |e verfasserin |4 aut | |
| 700 | 1 | |a Hong, Xinzhe |e verfasserin |4 aut | |
| 700 | 1 | |a Mao, Liangwei |e verfasserin |4 aut | |
| 700 | 1 | |a Gao, Jiong |e verfasserin |4 aut | |
| 700 | 1 | |a Pan, Weijun |e verfasserin |4 aut | |
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