What question did this study set out to answer?

The aim is to evaluate the effectiveness of non-invasive testing for detecting fetal genomic abnormalities from maternal blood.

March 28, 2026Open Access

Single‐cell‐based non‐invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

Key Points

The aim is to evaluate the effectiveness of non-invasive testing for detecting fetal genomic abnormalities from maternal blood.
Conducted a comparison of scsbNIPT with invasive prenatal diagnostics.
Focused on the detection of genome-wide p/lpCNVs and microimbalances.
Utilized maternal blood samples for non-invasive analysis.
scsbNIPT showed high sensitivity and comparable resolution to chromosomal microarray analysis.
Demonstrated improved screening capabilities for genome-wide p/lpCNVs.
Markedly lowered the residual risk of detection early in pregnancy.

Abstract

This study demonstrates the scientific validity and clinical utility of scsbNIPT for the non-invasive detection of genome-wide fetal p/lpCNVs, particularly microimbalances, with high sensitivity and a resolution comparable to that of chromosomal microarray analysis. scsbNIPT may offer more complete screening for genome-wide p/lpCNVs, markedly lowering the residual risk early in pregnancy compared with existing cfDNA-based methods. © 2026 Menarini Silicon Biosystems. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Single‐cell‐based non‐invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

Key Points

Abstract

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