Cell-free DNA (cfDNA) Testing

What is Cell-free DNA (cfDNA) Testing?
Cell-free DNA (cfDNA) testing is a non-invasive prenatal screening (NIPS) method that analyzes DNA fragments circulating in a pregnant woman’s blood. These fragments are shed from the placenta and fetal cells.
Why Cell-free DNA (cfDNA) Testing is required?
cfDNA testing is used to assess the risk of certain chromosomal abnormalities in the fetus, such as:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
- Sex chromosome abnormalities (e.g., Turner syndrome, Klinefelter syndrome)
which are the method of Cell-free DNA (cfDNA) Testing?
The primary method of cfDNA testing involves:
- Blood Draw: A simple blood sample is taken from the pregnant woman.
- DNA Extraction: Fetal DNA fragments are extracted from the maternal blood.
- Sequencing: The extracted DNA is sequenced to identify any chromosomal abnormalities.
who should go for Cell-free DNA (cfDNA) Testing?
cfDNA testing is typically recommended for pregnant women who:
- Are over 35 years old
- Have a history of miscarriages or stillbirths
- Have a family history of chromosomal abnormalities
- Have had a previous child with a chromosomal abnormality
What are the results of Cell-free DNA (cfDNA) Testing?
cfDNA testing provides a risk assessment, not a definitive diagnosis. A positive result indicates an increased risk of the fetus having a chromosomal abnormality. A negative result does not guarantee a healthy baby, but it significantly reduces the risk.
What are the components of Cell-free DNA (cfDNA) Testing?
cfDNA testing typically assesses the presence or absence of additional copies of chromosomes or deletions of chromosomal material. This information can be used to calculate the risk of various chromosomal abnormalities.