[Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(6): 577-580, 2021 Jun 10.
Article
em Zh
| MEDLINE
| ID: mdl-34096030
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Aborto Espontâneo
/
Variações do Número de Cópias de DNA
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article