Contextualising the qPCR algorithm for Turner syndrome: Where does it fit in clinical practice?

I read with great interest the recent article by Bose and colleagues in the May 2026 issue of the Indian Journal of Medical Research, describing a multi-primer qPCR-based algorithm for diagnosing classic and nonclassic Turner syndrome (TS). 1 Their demonstration that a four-primer approach can detect low-level mosaicism missed on routine 30-cell karyotyping is commendable, and the near-perfect agreement with 100-cell karyotyping is reassuring.That said, it is worth examining where this assay would sit in clinical laboratory workflows, because the answer differs meaningfully depending on whether the sample is prenatal or postnatal.In the prenatal setting, the authors appropriately flag maternal cell contamination (MCC) as a limitation.This is not a minor caveat.Before any molecular result on chorionic villus or amniocyte DNA can be trusted, MCC must be excluded -and the standard method is short tandem repeat (STR) analysis, which forms the very foundation of quantitative fluorescent PCR (QF-PCR).A prenatal laboratory wishing to deploy this qPCR algorithm would still need QF-PCR for MCC exclusion, effectively requiring three instrumentation platforms for a two-step workflow.A standard QF-PCR panel, by contrast, handles MCC exclusion and aneuploidy detection together on two platforms, 2,3 while simultaneously flagging trisomy 13, 18, 21, 47,XXY, 47,XYY, 47,XXX, and 45,X in a single run 2-4 -a diagnostic breadth that this X-chromosome-focused qPCR algorithm cannot match.For laboratories already running QF-PCR, adding a parallel qPCR workflow would increase complexity without a commensurate gain in diagnostic yield.