Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization
Prenatal Diagnosis, 04/17/2012
Ho SSY et al. – 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.