Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18

Abstract

Background Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. Conclusion In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to be examined to show if the histology is specific for this double trisomy.

Patterns of Placental Injury in Congenital Anomalies in Second Half of Pregnancy

“…[6][7][8] However, even with a triploid fetus, there may be discrepancy between fetal/placental phenotype and the origin of extra haploid set of chromosomes so phenotypic diagnosis cannot be relied upon even in this situation. 9 In trisomies, small placentas, single umbilical artery, delayed maturation, decreased vascularity, increased villous stromal cellularity, presence of large atypical nuclei in the stroma or trophoblast, reduction of villous small muscular arteries, [5][6][7][10][11][12][13][14] irregular villous outlines with villous stromal trophoblastic pseudoinclusions, and villous trophoblastic hyperplasia were previously described but no histologic features of confined placental mosaicism. 8 The reduced villous branching and trophoblastic hyperplasia could be secondary to the enlargement of all villous types or to a basic defect in placental development but these abnormalities, however, are usually described in the first or second trimester, 15 but even in the third trimester preterm pregnancies, increased trophoblast pseudoinclusions in chorionic villi, convoluted outlines of chorionic, diffuse villous hypercellularity and hypovascularity may be predictive of fetal neurodevelopmental abnormalities and be a hint to perform a cytogenetic workup on villi even in absence of obvious malformations.…”

An insight into the placental morphology in a case of Edwards syndrome

“…7 Therefore, there is limited literature correlating specific placental histomorphology with chromosomal abnormality. 8 In clinical settings where fetal malformations are absent or missed in radiology, placental morphology can potentially help in favoring or ruling out cytogenetic abnormalities. It is generally believed that placental histomorphology is normal in most cytogenetically normal fetuses although the placental features may vary with regard to shape and size.…”

“…11 In trisomies, many features can be seen like a single umbilical artery, delayed maturation, decreased vascularity, increased villous stromal cellularity, and small placentas. 8,12,13 According to Honore et al, cystic and dilated chorionic villi with hydropic change are seen in the placenta of trisomy 18 patients while Shah et al, have documented placental membrane necrosis along with focal pseudovillous papilliform cytotrophoblastic proliferation, large and cellular chorionic villi with convoluted outlines as its features. 8,11 In the present case, the placenta was small-sized, weighing only 100 grams.…”

“…8,12,13 According to Honore et al, cystic and dilated chorionic villi with hydropic change are seen in the placenta of trisomy 18 patients while Shah et al, have documented placental membrane necrosis along with focal pseudovillous papilliform cytotrophoblastic proliferation, large and cellular chorionic villi with convoluted outlines as its features. 8,11 In the present case, the placenta was small-sized, weighing only 100 grams. There was the presence of a single umbilical artery.…”

The state of the provisional organs in the fetus with vital and lethal anomalies (literature review)

“…Виражені зміни плаценти з порушенням її функції відмічаються в разі хромосомних ано малій, що спричиняє значну частоту ранніх репродуктивних втрат (завмирання вагітності, мимовільні викидні), а також до вираженої за тримки росту плода, антенатальної загибелі плода і передчасних пологів на пізніших термі нах вагітності [16,17,20,38].…”