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- W2000788236 abstract "Objective: Defects in the genes that regulate developmental processes lead to a wide range of embryonic, fetal and neonatal defects, from minor cosmetic abnormalities, to disasters that terminate pregnancies within a few days to weeks after fertilization. We sought to determine if the presence of defects in placental villous development, specifically trophoblast inclusions (TIs: cross sections of deep invaginations of the villous trophoblast bilayer, Figure), is a marker of genetically abnormal pregnancies. Design: Multicenter retrospective slide review with comparisons made between normal deliveries, elective terminations and spontaneous abortions. Materials and Methods: Chorionic villi from 855 elective terminations (TABs), 303 spontaneous losses (SABs) and 820 normal term deliveries were examined microscopically for the presence of TIs (defined as at least one trophoblast inclusion identified microscopically in the available material). 138 of the SABs were karyotyped, of which 77 were excluded (all normal 46, XX cases and cases where no villi were present for microscopic review), leaving 61 for analysis. Results: Comparison of TABs to all SABs revealed that 24/855 TABs had TIs compared to 81/303 SABs with TIs (sens 27%, spec 97%, PPV 77%, NPV 79%). Comparison of these same TABs to karyotypically characterized SABs revealed that 32/48 karyotypically abnormal SABs had TIs (sens 67%, spec 97%, PPV 57%, NPV 98%). Comparison of normal term deliveries to karyotypically characterized SABs revealed that 21/820 term placentas had TIs compared to 32/48 karyotypically abnormal SABs with TIs (sens 67%, spec 97%, PPV 60%, NPV 98%). When only SABs were compared, 1/13 SABs with normal karyotypes had TIs compared to 32/48 karyotypically abnormal SABs with TIs (sens 67%, spec 92%, PPV 97%, NPV 43%). Conclusions: We have observed that trophoblast inclusions are commonly found in the placentas of fetuses with known chromosomal abnormalities, are more commonly found in SABs compared to TABs, and are rare in normal term placentas. Abnormalities that affect the regulation of such basic cell processes as proliferation, cell movement and fusion are likely reflected in abnormal placental growth patterns, which can give rise to trophoblast inclusions. Since the fetus and placenta share the same genome (except in rare cases of confined placental mosaicism), the presence of trophoblast inclusions may serve as a marker for fetal genetic abnormalities." @default.
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- W2000788236 date "2003-09-01" @default.
- W2000788236 modified "2023-10-01" @default.
- W2000788236 title "Trophoblast inclusions are rare in elective terminations and normal deliveries, but common in cases with karyotypic abnormalities" @default.
- W2000788236 doi "https://doi.org/10.1016/s0015-0282(03)02035-1" @default.
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