Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.
Per Med
; 20(5): 425-433, 2023 Sep.
Article
em En
| MEDLINE
| ID: mdl-37623819
ABSTRACT
Background:
Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.Methods:
NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases.Results:
Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported.Conclusion:
NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Teste Pré-Natal não Invasivo
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Newborn
/
Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Revista:
Per Med
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Vietnã