Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies...

Area of Science:

• Prenatal diagnostics
• Genetics
• Molecular biology

Background:

• Cell-free DNA (cfDNA) testing is a non-invasive method for prenatal screening.
• Different analytical methods exist for cfDNA analysis, including targeted digital analysis of selected regions (DANSR) and genome-wide massively parallel sequencing (GW-MPS).
• Evaluating the performance and failure rates of these methods is crucial for clinical application.

Purpose of the Study:

• To compare the failure rates and trisomy 21 detection performance of cfDNA testing between two laboratories.
• To assess the efficacy of the HarmonyTM Prenatal Test (DANSR method) versus the "Cerba test" (GW-MPS method).

Main Methods:

• A total of 5,505 pregnancies were analyzed using cfDNA testing.
• The HarmonyTM Prenatal Test (DANSR) was used in 2,870 pregnancies, and the "Cerba test" (GW-MPS) in 2,635 pregnancies.
• Propensity score analysis was employed to match patients between the two groups for comparison.

Main Results:

• No-result rates were low in both groups: 1.30% for Harmony (DANSR) and 0.75% for Cerba (GW-MPS), with a statistically significant difference (p = 0.039).
• Both methods achieved 100% detection for trisomy 21, with 41 cases detected in the Harmony group and 93 in the Cerba group.
• The study included 2,811 patients in the Harmony group and 2,530 in the Cerba group without trisomy 21, 18, or 13.

Conclusions:

• Both cfDNA testing methods exhibit low no-result rates and comparable performance in detecting trisomy 21.
• Genome-wide massively parallel sequencing (GW-MPS) demonstrated a slightly lower no-result rate compared to the targeted digital analysis of selected regions (DANSR) method.
• These findings support the clinical utility of cfDNA testing for trisomy 21 screening using different analytical approaches.