Combined Model-Based Prediction for Non-Invasive Prenatal Screening.
Int J Mol Sci
; 23(23)2022 Nov 30.
Article
em En
| MEDLINE
| ID: mdl-36499318
ABSTRACT
The risk of chromosomal abnormalities in the child increases with increasing maternal age. Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal screening method, the accuracy of the test results needs to be improved owing to various testing conditions. We attempted to achieve a more accurate and robust prediction of chromosomal abnormalities by combining multiple methods. Here, three different methods, namely standard Z-score, normalized chromosome value, and within-sample reference bin, were used for 1698 reference and 109 test samples of whole-genome sequencing. The logistic regression model combining the three methods achieved a higher accuracy than any single method. In conclusion, the proposed method offers a promising approach for increasing the reliability of NIPT.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Aberrações Cromossômicas
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
/
Screening_studies
Limite:
Child
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Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Int J Mol Sci
Ano de publicação:
2022
Tipo de documento:
Article