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Updated: Apr 20, 2026

Cell-Free DNA Integrity Analysis in Urine Samples

Cell-Free DNA Integrity Analysis in Urine Samples

Published on: January 5, 2017

Circulating cell free DNA testing: are some test failures informative?

G E Palomaki¹, E M Kloza, G M Lambert-Messerlian

¹Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Providence, RI, USA; Alpert Medical School, Brown University, Providence, RI, USA; Savjani Institute for Health Research, Windham, ME, USA.

Prenatal Diagnosis

|December 3, 2014

Summary

This summary is machine-generated.

Low fetal fraction (FF) in cell-free DNA testing can lead to noninformative results. However, persistently low FF may indicate trisomy 18 or triploidy, warranting further assessment.

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Area of Science:

Prenatal diagnostics
Genetics
Molecular biology

Background:

Circulating cell-free DNA (cfDNA) analysis is crucial for non-invasive prenatal testing.
The fetal fraction (FF) of cfDNA is vital for test accuracy and reliability.
Certain fetal chromosomal abnormalities are associated with reduced FF, potentially causing inconclusive results.

Purpose of the Study:

To investigate the relationship between fetal fraction (FF) and specific fetal aneuploidies.
To evaluate the diagnostic utility of low FF in high-risk pregnancies.
To determine appropriate follow-up strategies for noninformative cfDNA tests.

Main Methods:

Analysis of cfDNA results from 4664 high-risk pregnancies.
Nested case/control study design.
Definition of low FF before and after adjustment for maternal weight and gestational age.

Main Results:

Significantly higher FF in Down syndrome pregnancies (ratio 1.17).
Significantly lower FF in trisomy 18 and triploidy pregnancies (ratios 0.71 and 0.19).
Low FF (<3.0%) occurred in 0.6% of cases, with trisomy 18 and triploidy identified in affected fetuses.

Conclusions:

Low FF in cfDNA testing necessitates consideration of trisomy 18 and triploidy.
Offer additional assessments like ultrasound for noninformative low FF results.
Consider amniocentesis and karyotype/microarray if ultrasound abnormalities are present.