Umbilical Cord Pseudocyst in a Fetus with Trisomy 18

2003 ◽  
Vol 18 (1) ◽  
pp. 8-11 ◽  
Author(s):  
T. Kuwata ◽  
S. Matsubara ◽  
A. Izumi ◽  
K. Odagiri ◽  
T. Tsunoda ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Trisomy 18

Umbilical cord pseudocyst in trisomy 18

1988 ◽  
Vol 8 (8) ◽  
pp. 557-563 ◽  
Author(s):  
Eric Jauniaux ◽  
Catherine Donner ◽  
Christine Thomas ◽  
Jacques Francotte ◽  
Frédéric Rodesch ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Trisomy 18

The Holoacardius: A Correlative Computerized Tomographic, Radiologic, and Ultrasonographic Investigation of a New Case with Review of Literature

1986 ◽  
Vol 35 (1-2) ◽  
pp. 77-89 ◽  
Author(s):  
K.P. Bhatnagar ◽  
S.C. Sharma ◽  
J. Bisker
Keyword(s):  
Lower Extremity ◽  
Umbilical Cord ◽  
World Literature ◽  
Twin Pregnancy ◽  
Trisomy 18 ◽  
Upper Extremities ◽  
Review Of Literature ◽  
Monochorionic Twin

AbstractA holoacardius from a monozygotic, monochorionic twin pregnancy of 36 weeks is described. Trisomy-18 was diagnosed in the viable female cotwin. Computerized tomographic, radiologic, and ultrasonographic procedures were applied to the acardiac. Its three-vessel umbilical cord was velamentously attached to the single placenta. Grossly malformed and poorly developed craniofacial structures, absence of neck and upper extremities, sirenomelic lower extremity, absence of heart, and development of only a few skeletal elements were prominent features. A review of selected world literature emphasizes the limits of the estimates dealing with the total number of reported cases and the incidence of acardii.

Prenatal diagnosis of umbilical cord aneurysm in a fetus with trisomy 18

2001 ◽  
Vol 17 (1) ◽  
pp. 79-81 ◽  
Author(s):  
C. Berg ◽  
A. Geipel ◽  
U. Germer ◽  
K. Gloeckner-Hofmann ◽  
U. Gembruch
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Trisomy 18

Umbilical cord pseudocyst in trisomy 18

1990 ◽  
Vol 10 (4) ◽  
pp. 274-275 ◽  
Author(s):  
G. Constantine ◽  
J. Anderson ◽  
A. Fowlie
Keyword(s):  
Umbilical Cord ◽  
Trisomy 18

scholarly journals Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Xiaofen Qiu ◽  
Haiyan Yu ◽  
Hongwei Wu ◽  
Zhiyang Hu ◽  
Jun Zhou ◽  
...  
Keyword(s):  
Cord Blood ◽  
Umbilical Cord ◽  
Umbilical Cord Blood ◽  
Leukemia Virus ◽  
Chromatin Accessibility ◽  
Trisomy 18 ◽  
Human Umbilical Cord Blood ◽  
Human Umbilical Cord ◽  
Human T Cell ◽  
Essential Components

Abstract Background Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies. The research of trisomy 18 is progressing slowly, and the molecular characteristics of the disease mechanism and phenotype are still largely unclear. Results In this study, we used the commercial Chromium platform (10× Genomics) to perform sc-ATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells derived from one trisomy 18 syndrome patient and one healthy donor. We obtained 13 distinct major clusters of cells and identified them as 6 human umbilical cord blood mononuclear cell types using analysis tool. Compared with the NC group, the ES group had a lower ratio of T cells to NK cells, the ratio of monocytes/DC cell population did not change significantly, and the ratio of B cell nuclear progenitor and megakaryocyte erythroid cells was higher. The differential genes of ME-0 are enriched in Human T cell leukemia virus 1 infection pathway, and the differential peak genes of ME-1 are enriched in apopotosis pathway. We found that CCNB2 and MCM3 may be vital to the development of trisomy 18. CCNB2 and MCM3, which have been reported to be essential components of the cell cycle and chromatin. Conclusions We have identified 6 cell populations in cord blood. Disorder in megakaryocyte erythroid cells implicates trisomy 18 in perturbing fetal hematopoiesis. We identified a pathway in which the master differential regulatory pathway in the ME-0 cell population involves human T cell leukemia virus 1 infection, a pathway that is dysregulated in patients with trisomy 18 and which may increase the risk of leukemia in patients with trisomy 18. CCNB2 and MCM3 in progenitor may be vital to the development of trisomy 18. CCNB2 and MCM3, which have been reported to be essential components of the cell cycle and chromatin, may be related to chromosomal abnormalities in trisomy 18.

Third Trimester Intrauterine Fetal Death Caused by Arterial Aneurysm of the Umbilical Cord

2007 ◽  
Vol 10 (4) ◽  
pp. 305-308 ◽  
Author(s):  
Martin A. Weber ◽  
Ashis Sau ◽  
Darryl J. Maxwell ◽  
Norman A. Mounter ◽  
Sebastian B. Lucas ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
English Language ◽  
Fetal Death ◽  
Umbilical Vein ◽  
Artery Aneurysm ◽  
Normal Karyotype ◽  
Trisomy 18 ◽  
Intrauterine Fetal Death ◽  
Arterial Aneurysm ◽  
Rare Lesion

Umbilical artery aneurysm (UAA) of the umbilical cord is an extremely rare lesion, with only 8 reported cases in the English-language literature; 7 of these were associated with significant fetal morbidity or mortality and 4 were associated with fetal trisomy 18. We report an additional case of UAA with normal karyotype that resulted in intrauterine growth restriction and fetal demise. It has been suggested that these aneurysms cause fetal hypoxia and intrauterine fetal death, either by compression of the umbilical vein or by acute kinking of the umbilical cord. Cytogenetic analysis should be performed in all cases diagnosed with this unusual lesion, and placental mosaicism for trisomy 18 should be excluded.

scholarly journals Single-Cell Chromatin Accessibility Landscape of Human Umbilical Cord Blood in Trisomy 18 Syndrome

2021 ◽  
Author(s):  
Xiaofen Qiu ◽  
Haiyan Yu ◽  
Hongwei Wu ◽  
Zhiyang Hu ◽  
Jun Zhou ◽  
...  
Keyword(s):  
Cord Blood ◽  
Single Cell ◽  
Umbilical Cord ◽  
Umbilical Cord Blood ◽  
Target Genes ◽  
Chromatin Accessibility ◽  
Trisomy 18 ◽  
Human Umbilical Cord Blood ◽  
Specific Gene ◽  
Human Umbilical Cord

Abstract Background: Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies.Results: In this study, we used the commercial Chromium platform (10x Genomics) to perform sc-ATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells derived from one trisomy 18 syndrome patient and one healthy donor. We obtained 13 distinct major clusters of cells and identified them as 6 human umbilical cord blood mononuclear cell types without using antibodies. We set out to generate a single-cell atlas of chromatin accessibility in human umbilical cord blood from the healthy control donor and the 18 trisomy syndrome donor. Then, we carried out cell-type-specific gene regulatory network analysis at single-cell resolution of these differential accessibility-related loci genes and summarized the disease-related transcription factors (TFs) and target genes. Finally, we performed a cell-type-specific gene regulatory network analysis of these differential accessibility-related locus genes at single-cell resolution.Conclusions: Specifically, CCBN2 and MCM3 may be essential for the development of trisomy 18, and genes differentially expressed between the donor and patient were enriched in the human T-cell leukaemia virus 1 infection pathway. These screened disease-related transcription factors (TFs) and their target genes provide a basis for further research that will improve our understanding of trisomy 18 syndrome.

Sign in / Sign up

Export Citation Format

Share Document