Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review

Frontiers in Pediatrics

article

Cechuan Deng¹  Shanling Liu¹ 

[1] Prenatal Diagnostic Center, Department of Medical Genetics, West China Second University Hospital, Sichuan University;Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University

关键词: noninvasive prenatal screening;    cell-free fetal DNA;    fetal fraction;    molecular genetics;    genetic counseling;   

DOI  :  10.3389/fped.2022.812781

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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 screen for fetal aneuploidies, and has been used globally. Fetal fraction, an important parameter in the analysis of noninvasive prenatal screening results, is the proportion of fetal cell-free DNA present in the total maternal plasma cell-free DNA. It combines biological factors and bioinformatics algorithms to interpret noninvasive prenatal screening results and is an integral part of quality control. Maternal and fetal factors may influence fetal fraction. To date, there is no broad consensus on the factors that affect fetal fraction. There are many different approaches to evaluate this parameter, each with its advantages and disadvantages. Different fetal fraction calculation methods may be used in different testing platforms or laboratories. This review includes numerous publications that focused on the understanding of the significance, influencing factors, and interpretation of fetal fraction to provide a deeper understanding of this parameter.

【 授权许可】

CC BY