5 research outputs found

    Example ddPCR-NIPD assay results for male proband (PM1), male control (CM3) and female proband (PF3).

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    <p>Three replicates (rep1, rep2 and rep3) are shown for each sample, separated by dashed vertical lines. Each event represents a separate droplet. ZFX and ΔF508-NOR were labelled with VIC and detected at 535–555 nm (positive droplets are shown in green). ZFY and ΔF508-MUT were labelled with FAM and detected at 510–530 nm (positive droplets are shown in blue). Grey points represent negative droplets. As expected, ZFY positive droplets are almost absent in the female sample and ΔF508-MUT positive droplets are absent in the healthy control.</p

    Pedigree of a family likely to benefit from non-invasive prenatal diagnosis.

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    <p>The parents each carried a different mutation, putting offspring at risk of compound heterozygosity. Three proband pregnancies (P) were tested, as well as three male and three female unrelated control pregnancies (not shown). Non-invasive testing was performed at around week 11–12 of gestation.</p

    Proportions of ΔF508-MUT (A) and male (B) DNA found in cffDNA.

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    <p>Results are shown for two male probands (PM1, PM3), a female proband (PF2), three control male pregnancies (CM1, CM2, CM3) and three control female pregnancies (CF4, CF5, CF6). Male and female samples are labelled with the (♂) and (♀) symbols respectively. The suggested threshold between a positive and negative result is represented by a grey dashed line at 0.25x the mean of the known positive samples.</p
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