False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

Figure 1

Postnatal aneuploidy detection by chromosome and FISH analysis. (a) G-banded karyotype on a blood specimen of the newborn shows trisomy 13. (b) FISH analysis on a blood specimen of the newborn shows three signals of LSI 13 (RB1) probe targeted on 13q14 (green) and two signals of LSI 21 (D21S341) probe targeted on 21q22.13-q22.2 (orange). Cells are stained with DAPI (blue) to visualize nuclei. (c) FISH analysis for aneuploidy detection in different tissue types of placental specimen shows mosaic trisomy 13. Signals of LSI 13 (RB1) probe targeted on 13q14 are shown in green. Signals of LSI 21 (D21S341) probe targeted on 21q22.13-q22.2 are shown in orange. Cells are stained with DAPI (blue) to visualize nuclei.

(a)

(b)

(c)