Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 577-580, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879630
Responsible library:
WPRO
ABSTRACT
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.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Abortion, Spontaneous
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Microsatellite Repeats
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DNA Copy Number Variations
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Karyotyping
Type of study:
Diagnostic_studies
Limits:
Female
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Humans
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Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article