Factors affecting the fetal fraction in noninvasive prenatal screening: a review

C Deng, S Liu - Frontiers in Pediatrics, 2022 - frontiersin.org
A paradigm shift in noninvasive prenatal screening has been made with the discovery of cell-
free fetal DNA in maternal plasma. Noninvasive prenatal screening is primarily used to …

[HTML][HTML] Systematic evidence-based review: the application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

NC Rose, ES Barrie, J Malinowski, GP Jenkins… - Genetics in …, 2022 - Elsevier
Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated
into prenatal care. Prior studies examined clinical validity and technical performance in high …

[HTML][HTML] Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American …

JS Dungan, S Klugman, S Darilek, J Malinowski… - Genetics in …, 2023 - Elsevier
Purpose This workgroup aimed to develop an evidence-based clinical practice guideline for
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …

Leveraging the fragment length of circulating tumour DNA to improve molecular profiling of solid tumour malignancies with next-generation sequencing: a pathway to …

HR Underhill - Molecular diagnosis & therapy, 2021 - Springer
Circulating cell-free DNA (ccfDNA) has emerged as a promising diagnostic tool in oncology.
Identification of tumour-derived ccfDNA (ie circulating tumour DNA [ctDNA]) provides non …

Validity and utility of non-invasive prenatal testing for copy number variations and microdeletions: A systematic review

L Zaninović, M Bašković, D Ježek… - Journal of clinical …, 2022 - mdpi.com
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and
microdeletions are still insufficient. We aimed to compare different methodological …

Cell‐free fetal DNA coming in all sizes and shapes

RWK Chiu, YMD Lo - Prenatal Diagnosis, 2021 - Wiley Online Library
Cell‐free fetal DNA analysis has an established role in prenatal assessments. It serves as a
source of fetal genetic material that is accessible non‐invasively from maternal blood …

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

Y Pang, C Wang, J Tang, J Zhu - Molecular Cytogenetics, 2021 - Springer
Objective To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal
autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy …

High positive predictive value 22q11. 2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification

C Hammer, S Pierson, A Acevedo… - Prenatal …, 2024 - Wiley Online Library
Abstract Objective 22q11. 2 deletion syndrome (DS) is a serious condition with a range of
features. The small microdeletion causing 22q11. 2DS makes it technically challenging to …

Lipid metabolism affects fetal fraction and screen failures in non-invasive prenatal testing

J Cao, L Qiao, J Jin, S Zhang, P Chen, H Tang… - Frontiers in …, 2022 - frontiersin.org
Objective: To assess the association between lipid metabolism and fetal fraction, which is a
critical factor in ensuring a highly accurate non-invasive prenatal testing (NIPT), and on the …

A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss

L Qiao, B Zhang, X Wu, C Zhang, Y Xue, H Tang… - Journal of Translational …, 2022 - Springer
Objective We and others have previously demonstrated that the size-selection enrichment
method could remarkably improve fetal fraction (FF) in the early gestational age (GA, 12–13 …