A digital microfluidic platform for cell-based non-invasive testing

Area of Science:

• Reproductive Biology
• Genetics
• Biotechnology

Background:

• Current prenatal genetic diagnostics require invasive procedures with risks like miscarriage.
• Cervical mucosa is a potential source of fetal cells, but fetal cell numbers are very low.
• Existing methods struggle to isolate sufficient fetal cells from cervical samples for diagnostics.

Purpose of the Study:

• To develop and validate a digital microfluidic isolation of single cells for omics (DISCO) system for collecting fetal cells from cervical mucosa.
• To identify specific markers for fetal cells within cervical samples.
• To enable non-invasive prenatal genetic diagnostics using cervical cell samples.

Main Methods:

• Application of the DISCO platform to isolate single cells from transcervical swabs.
• Transcriptomic analysis of placental and cervical swab samples to identify fetal cell markers.
• Integration of placental and swab transcriptomes to define a 147-gene marker signature for fetal cells.

Main Results:

• The DISCO system successfully collected putative fetal cells from transcervical swabs.
• Transcriptomic analysis identified a specific set of 147 marker genes characteristic of fetal cells.
• Isolated cell collections contained both fetal and maternal DNA, confirming successful cell capture and differentiation.

Conclusions:

• The DISCO system provides a viable method for identifying and collecting fetal cells from cervical mucosa.
• Identification of novel fetal cell markers enhances the potential for non-invasive prenatal genetic testing.
• This approach offers a promising alternative to invasive prenatal diagnostic procedures.