Open AccessAn online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA
Author(s) -
Luca Bedon,
Josef Vuch,
Simeone Dal Monego,
Germana Meroni,
Vanna Pecile,
Danilo Licastro
Publication year - 2021
Publication title -
biotechniques/biotechniques
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.617
H-Index - 131
eISSN - 1940-9818
pISSN - 0736-6205
DOI - 10.2144/btn-2020-0143
Subject(s) - fraction (chemistry) , cell free fetal dna , dna , fetus , prenatal diagnosis , computational biology , bioinformatics , biology , pregnancy , genetics , chromatography , chemistry
The discovery of circulating fetal DNA in the plasma of pregnant women has greatly promoted advances in noninvasive prenatal testing. Screening performance is enhanced with higher fetal fraction and analysis of samples whose fetal DNA fraction is lower than 4% are unreliable. Although current approaches to fetal fraction measurement are accurate, most of them are expensive and time consuming. Here we present a simple and cost-effective solution that provides a quick and reasonably accurate fetal fraction by directly evaluating the size distribution of circulating DNA fragments in the extracted maternal cell-free DNA. The presented approach could be useful in the presequencing stage of noninvasive prenatal testing to evaluate whether the sample is suitable for the test or a repeat blood draw is recommended.