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

Area of Science:

• Genetics
• Molecular Biology
• Obstetrics

Background:

• Cell-free fetal DNA in maternal plasma revolutionized prenatal screening.
• Noninvasive prenatal screening (NIPS) is widely used for fetal aneuploidy detection globally.
• Fetal fraction (FF) is the proportion of cell-free fetal DNA in maternal plasma, vital for NIPS accuracy.

Purpose of the Study:

• To review the significance of fetal fraction in NIPS.
• To explore maternal and fetal factors influencing fetal fraction.
• To discuss various methods for evaluating and interpreting fetal fraction.

Main Methods:

• Literature review of numerous publications on fetal fraction.
• Analysis of biological and bioinformatics factors affecting FF.
• Comparison of different FF evaluation approaches.

Main Results:

• Fetal fraction is integral to NIPS quality control and interpretation.
• Maternal and fetal factors significantly impact FF.
• Diverse methods exist for FF calculation, with varying pros and cons.

Conclusions:

• A deeper understanding of FF is needed for robust NIPS.
• Standardization of FF evaluation may improve NIPS reliability.
• Further research is essential to establish consensus on FF influencing factors.