Best Practice & Research clinical obstetrics & gynaecology

Area of Science:

• Genetics
• Obstetrics
• Molecular Biology

Background:

• Cell-free DNA (cfDNA) screening for fetal aneuploidies, introduced in 2011, has become a standard in prenatal care.
• The scope of cfDNA screening has expanded beyond aneuploidies to include sex chromosomal abnormalities, copy number variants, and rare trisomies.

Purpose of the Study:

• To review the current landscape and future potential of cfDNA screening for fetal genetic disorders.
• To highlight the evolving capabilities and limitations of cfDNA analysis in prenatal diagnostics.

Main Methods:

• Review of current literature and clinical applications of cfDNA screening.
• Analysis of emerging research on expanded cfDNA testing capabilities and insights from cfDNA characteristics.

Main Results:

• While cfDNA screening is expanding, the positive predictive value for rarer conditions remains a challenge.
• Maternal genetic findings can complicate cfDNA test interpretation.
• Research indicates potential for cfDNA to screen for a broader spectrum of genetic conditions.

Conclusions:

• The field of cfDNA screening is rapidly advancing, with ongoing research exploring its expanded use for numerous genetic disorders.
• Further understanding of cfDNA fragments and fetal fraction may offer additional diagnostic insights and predict adverse pregnancy outcomes.