Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization

Prenatal Diagnosis, 04/17/2012

Results were concordant with their karyotypes and ready to be released within 3?h of sample receipt. Microfluidic FISH, using 20–fold less than the recommended amount of probe, is a cost–effective method to diagnose common fetal aneuploidies within the same day of fetal sampling.

  • Rapid molecular prenatal diagnostic methods, such as fluorescence in situ hybridization (FISH), quantitative fluorescence–PCR, and multiplex ligation–dependent probe amplification, can detect common fetal aneuploidies within 24 to 48?h.
  • However, specific diagnosis or aneuploidy exclusion should be ideally available within the same day as fetal sampling to alleviate parental anxiety.
  • Microfluidic technologies integrate different steps into a microchip, saving time and costs.
  • Authors have developed a cost–effective, same–day prenatal diagnostic FISH assay using microfluidics.
  • Amniotic fluids (1–4?mL from 40 pregnant women at 15–22 weeks of gestation) were fixed with Carnoy's before loading into the microchannels of a microfluidic FISH–integrated nanostructured device.
  • The glass slides were coated with nanostructured titanium dioxide to facilitate cell adhesion.
  • Pretreatment and hybridization were performed within the microchannels. Fifty nuclei were counted by two independent analysts, and all results were validated with their respective karyotypes.
  • Fifty nuclei were counted by two independent analysts, and all results were validated with their respective karyotypes.
  • Of the 40 samples, we found three cases of fetal aneuploidies (trisomies 13, 18, and 21), whereas the remaining 37 cases were normal.

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