PMC5863320_01
Hydrops, posterior nuchal fluid accumulation (a) and right foot, showing absence of second and third digits (b).
CRIPA2018-2839765.001.jpg
PMC5863320_01_CRIPA2018-2839765.001.jpg
fig1
The fingers were short bilaterally (Figure 1(a)), and the right foot showed absence of the second and third digits (Figure 1(b)).
Histologic examination of the placenta. Pseudovillous trophoblastic proliferation present at the undersurface of the chorionic plate [(a) magnification x100, H&E], highlighted by double E-cadherin (brown)/CD34 (red) immunostain [(b) magnification x400]. Large irregular chorionic villi, showing trophoblastic pseudoinclusions and focal mineralization [(c) magnification x100, H&E]. Iron stain highlights the ferrugination [(d) magnification x200]. Clusters of villous trophoblasts are seen [(e) magnification x400, H&E], highlighted by dual E-cadherin (brown) and CD34 (red) immunostain [(f) magnification x400]. Perpendicularly oriented clusters of sclerotic chorionic villi are present in the chorion laeve [(g) magnification x100, H&E].
CRIPA2018-2839765.002.jpg
PMC5863320_01_CRIPA2018-2839765.002.jpg
fig2
The undersurface of the chorionic plate showed focal pseudovillous papilliform cytotrophoblastic proliferation (Figure 2(a)). This was highlighted by double immunohistochemical stain for E-cadherin/CD34 (Figure 2(b)). The chorionic villi were large and cellular, with convoluted outlines and presence of both trophoblastic pseudoinclusions (Figure 2(c)), secondary to villous scalloping, and focal robust ferrugination of the basal lamina (Figure 2(c)), highlighted by iron stain (Figure 2(d)). Rare clusters of villous cytotrophoblasts were seen, with normal villous vascularity (Figure 2(e)), highlighted by E-cadherin/CD34 immunostain (Figure 2(f)). The chorion laeve showed an uneven distribution of perpendicularly oriented and elongated clusters of sclerotic chorionic villi (Figure 2(g)).
Karyotype of placental tissue reveals coexistent trisomy 18 and trisomy X (a). Fluorescence in situ hybridization performed on thymic tissue confirms presence of trisomy 18 and trisomy X (100/100 cells) (b).
CRIPA2018-2839765.003.jpg
PMC5863320_01_CRIPA2018-2839765.003.jpg
fig3
G-banded karyotyping of placental tissue revealed a 48,XXX,+18 karyotype (Figure 3(a)). Fluorescence in situ hybridization testing for chromosomes X and 18 was performed on relatively well-preserved thymic tissue and highlighted double trisomy of these chromosomes (Figure 3(b)), which rules out an isolated placental mosaicism.