Results 21 to 30 of about 2,740 (178)

Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples [PDF]

Journal of Clinical Medicine, 2019
Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples
Giovanni Monni, Federica Murgia, Valentina Corda, Cristina Peddes, Ambra Iuculano, Laura Tronci, Antonella Balsamo, Luigi Atzori   +7 more
openaire   +2 more sources

Detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology and in vitro fertilization

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology (ART) and in vitro fertilization (IVF).
Chih-Ping Chen, Schu-Rern Chern, Liang-Kai Wang, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +6 more
doaj   +1 more source

Candida Sepsis Following Transcervical Chorionic Villi Sampling [PDF]

Infectious Diseases in Obstetrics and Gynecology, 2001
Background: The use of invasive devices and broad spectrum antibiotics has increased the rate of candidal superinfections.Candida sepsis associated with pregnancy is rare. Candida sepsis following chorionic villi sampling (CVS) has never been reported.Case: A 31‐year‐old pregnant woman presented with signs of sepsis one day after undergoing ...
Paz, Alona, Gonen, Roni, Potasman, Israel   +2 more
openaire   +2 more sources

Generation of Trophoblast Organoids from Chorionic Villus Sampling

Organoids
Studying human placental development and function presents significant challenges due to the inherent difficulties in obtaining and maintaining placental tissue throughout the course of an ongoing pregnancy.
Bas van Rijn, Diane Van Opstal, Nicole van Koetsveld, Maarten Knapen, Joost Gribnau, Olivier Schäffers   +5 more
doaj   +1 more source

Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM).
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +1 more source

Microscopic investigation of villi from chorionic villous sampling [PDF]

Human Reproduction, 1998
The aim of the present study was to investigate the morphology of cytogenetically normal chorionic villi from chorionic villous sampling (CVS) specimens. This information can serve as a reference for morphological investigation of cytogenetically abnormal CVS specimens.
C, Vis, E, Everhardt, J, te Velde, N, Exalto   +3 more
openaire   +2 more sources

Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

Thalassemia Reports, 2014
Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation.
Gianfranca Damiani, Margherita Vinciguerra, Cristina Jakil, Monica Cannata, Filippo Cassarà, Francesco Picciotto, Giovanna Schillaci, Valentina Cigna, Disma Renda, Aldo Volpes, Francesca Sammartano, Samuela Milone, Adolfo Allegra, Cristina Passarello, Filippo Leto, Antonino Giambona   +15 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

Children, 2022
Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus).
Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B. Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou, Ioannis Papastefanou, Georgios Daskalakis, Aleksandar Ristic   +12 more
doaj   +1 more source

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

Developmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source