Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations
OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations.
METHODS: Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs).
RESULTS: The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis.
CONCLUSION: For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:39 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 39(2022), 4 vom: 10. Apr., Seite 366-369 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Qu, Suzhen [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 25.04.2022 Date Revised 25.04.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20200801-00572 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM339761970 |
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| 245 | 1 | 0 | |a Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations |
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| 500 | |a Date Completed 25.04.2022 | ||
| 500 | |a Date Revised 25.04.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations | ||
| 520 | |a METHODS: Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs) | ||
| 520 | |a RESULTS: The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis | ||
| 520 | |a CONCLUSION: For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Shi, Panlai |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Tianyuan |e verfasserin |4 aut | |
| 700 | 1 | |a Gao, Zhi |e verfasserin |4 aut | |
| 700 | 1 | |a Guan, Hongying |e verfasserin |4 aut | |
| 700 | 1 | |a Kong, Xiangdong |e verfasserin |4 aut | |
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