Improvement of algorithm based on free DNA fragment size for non-invasive prenatal test / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 609-612, 2020.
Article
de Zh
| WPRIM
| ID: wpr-826524
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To derive more sensitive and accurate Z-scores for noninvasive prenatal testing of fetal trisomies based on a combined DNA count- and size- algorithm.@*METHODS@#One hundred eighty women at a high risk for fetal aneuploidies underwent amniocentesis. An effective cut-off value for DNA size ratio was explored. Conventional count-based Z-scores and size ratio-corrected Z scores were calculated. The reliability of each Z-score was assessed through comparison with the results of cytogenetic analysis.@*RESULTS@#With the cut-off value set as 150 bp, the ratio of small DNA is positively correlated with the proportion of fetal DNA. The sensitivity and specificity of conventional count-based Z-scores were 75.00%, and 98.86%, respectively. This rate has increased to nearly 100% with a count-based 150 bp size correction.@*CONCLUSION@#Compared with count-based methods alone, count-based Z-scores with 150 bp size correction may better predict fetal trisomies.
Texte intégral:
1
Indice:
WPRIM
Type d'étude:
Prognostic_studies
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article