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Cell-free DNA testing after combined test: factors affecting the uptake
Nerea Maiz1,2, Irune Alzola1, Emerson J Murua1
1a Fetal Medicine Unit, Obstetrics and Gynecology Service, Clínica Zuatzu , San Sebastian , Spain and.
Summary
Cell-free DNA (cfDNA) testing uptake rises with trisomy risk, maternal age, and in nulliparous women. Invasive testing uptake increases with trisomy risk and nuchal translucency thickness.
Area of Science:
- Maternal-Fetal Medicine
- Prenatal Diagnostics
- Genetics
Background:
- Combined testing is a standard screening for Down syndrome.
- Cell-free DNA (cfDNA) and invasive testing are subsequent diagnostic options.
- Understanding uptake factors is crucial for genetic counseling and resource allocation.
Purpose of the Study:
- To evaluate the uptake of cfDNA testing post-combined testing.
- To identify maternal and fetal factors influencing cfDNA and invasive testing decisions.
- To assess the uptake of invasive testing and its influencing factors.
Main Methods:
- Observational retrospective study of 1083 singleton pregnancies.
- Analysis of cfDNA and invasive testing uptake following combined Down syndrome screening.
- Multivariate logistic regression to identify influencing factors (trisomy risk, maternal age, NT thickness).
Main Results:
- 23.7% underwent cfDNA testing, 8.2% had invasive testing, 68.1% had no further testing.
- cfDNA uptake correlated positively with trisomy risk, maternal age, and was higher in nulliparous women.
- Invasive testing uptake correlated positively with trisomy risk and nuchal translucency thickness.
Conclusions:
- cfDNA testing uptake is influenced by trisomy risk, maternal age, and parity.
- Invasive testing uptake is primarily driven by trisomy risk and nuchal translucency.
- These findings inform genetic counseling regarding prenatal screening and diagnostic test choices.
