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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

ABSTRACT: Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

PROVIDER: PRJNA948399 | ENA |

REPOSITORIES: ENA

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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Project description:Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Project description:Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Project description:Extensive genome analysis of pregnancy loss products by genome haplarithmisis. Pregnancy loss (PL) is the primary pregnancy complication, mostly caused by chromosomal abnormalities of the conceptus. However, the nature and prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental compartments during intrauterine development remains elusive. We analyzed 1,745 spontaneous PLs and found that ~50% were karyotypically normal. We applied genome haplarithmisis to 91 PL families with normal karyotypes, following whole-genome genotypes of the parents as well as of the extraembryonic mesoderm (EM) and chorionic villi (CV), representing embryonic and placental cells, of the product of conception (POC), which allowed characterizing genomic landscape of both lineages. 36.4% of these PLs have chromosomal aberrations not previously detected by karyotyping. In contrast to viable pregnancies where mosaic chromosomal abnormalities are often restricted to the CV, we find that in spontaneous abortions, the situation is reversed with a higher degree of mosaic chromosomal imbalances in EM rather than CV.

2023-10-05 | GSE228150 | GEO

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

2023-10-05 | GSE228149 | GEO

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Project description:Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development remain elusive. We analyzed 1,745 spontaneous pregnancy losses and found that roughly half (50.4%) of the products of conception (POC) were karyotypically abnormal, with maternal and paternal age independently contributing to the increased genomic aberration rate in pregnancy loss. We applied genome haplarithmisis to a subset of 94 pregnancy losses with normal parental and POC karyotypes. Genotyping of parental DNA as well as POC extraembryonic mesoderm and chorionic villi DNA, representing embryonic and trophoblastic tissues, enabled characterization of the genomic landscape of both lineages. Of these pregnancy losses, 35.1% had chromosomal aberrations not previously detected by karyotyping, increasing the rate of aberrations of pregnancy losses to 67.8% by extrapolation. In contrast to viable pregnancies where mosaic chromosomal abnormalities are often restricted to chorionic villi, such as confined placental mosaicism, we found a higher degree of mosaic chromosomal imbalances in extraembryonic mesoderm rather than chorionic villi in pregnancy losses. Our results stress the importance of scrutinizing the full allelic architecture of genomic abnormalities in pregnancy loss to improve clinical management and basic research of this devastating condition.

2023-10-05 | GSE228151 | GEO

Characterization of human plasma pregnancy-associated miRNAs at first trimester and their association with pregnancy complications [cohort 1]

Project description:To characterize the human plasma microtranscriptome profile at first trimester of pregnancy in presence or not of pregnancy complications, we sequenced microRNAs in plasma samples collected from pregnant women between the 4th and the 16th weeks of pregnancy. We then performed differential expression analyses to assess the miRNA profile diffrences according to the presence of pregnancy complications or not (i.e. Gestational diabetes mellitus, Gestational hypertension or preeclampsia vs. normal pregnancies).

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Characterization of human plasma pregnancy-associated miRNAs at first trimester and their association with pregnancy complications [cohort 2]

Project description:To characterize the human plasma microtranscriptome profile at first trimester of pregnancy in presence or not of pregnancy complications, we sequenced microRNAs in plasma samples collected from pregnant women between the 6th and the 15th weeks of pregnancy as a replication cohort. We then performed differential expression analyses to assess the miRNA profile diffrences according to the presence of pregnancy complications or not (i.e. Gestational diabetes mellitus, Gestational hypertension or preeclampsia vs. normal pregnancies).

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Investigating Human Placentation and Pregnancy Using First Trimester Chorionic Villi

Project description:Investigating Human Placentation and Pregnancy Using First Trimester Chorionic Villi

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Next Generation Sequencing of syncytializing first trimester human cytotrophoblasts.

Project description:Aim of this study was to monitor differentially expressed gene signatures of human first trimester villous cytotrophoblasts (vCTBs) undergoing spontaneous differentiation into syncytiotrophoblasts (STB).

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Proteomic characterisation of extracellular vesicles derived from first trimester placentae

Project description:This study investigated the proteomes of macro-, micro- and nanovesicles derived from the same first trimester human placenta to better understand the role that these extracellular vesicles (EVs) play in maternal adaptation during healthy pregnancy. During human pregnancy, the mother undergoes major physiological and immunological adaptations to accommodate the fetus. There is growing evidence that EVs extruded from the placental syncytiotrophoblast into the maternal blood may regulate these maternal adaptations. Placental EVs can be divided into macro-, micro- and nanovesicles based on their size. To date, it is unclear whether these differently sized EVs carry different protein cargos and have different effects on maternal responses.

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