[Feasibility of non-invasive prenatal testing for the detection of fetal chromosomal copy number variants].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(6): 696-701, 2024 Jun 10.
Article
em Zh
| MEDLINE
| ID: mdl-38818553
ABSTRACT
OBJECTIVE:
To explore the feasibility of non-invasive prenatal testing (NIPT) for detecting fetal chromosomal copy number variants (CNV).METHODS:
A retrospective analysis was carried out on NIPT positive samples in Suzhou Municipal Hospital from January 1, 2019 to December 31, 2021. The effect of NIPT on fetal CNV detection was assessed by comparison with the results of karyotype analysis and/or chromosomal microarray analysis (CMA).RESULTS:
Among the 525 NIPT positive samples, 146 were CNV cases, of which 84 were further verified by karyotyping and/or CMA, 29 (34.5%) were true positive. Among them, 12 cases were pathogenic variants, 2 cases were likely pathogenic variants and 15 cases were variants of uncertain significance.CONCLUSION:
NIPT could detect CNV with high accuracy, and to combine CNV detection and chromosomal aneuploidy detection has great significance to improve the prenatal and postnatal care.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Variações do Número de Cópias de DNA
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Teste Pré-Natal não Invasivo
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Cariotipagem
Idioma:
Zh
Ano de publicação:
2024
Tipo de documento:
Article