Results 21 to 30 of about 2,656 (193)

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

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

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 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

Decoding Human Placental Cellular and Molecular Responses to Obesity and Fetal Growth

Advanced Science, EarlyView.
Women with obesity often deliver large‐for‐gestational‐age (LGA) infants. Single‐nucleus RNA sequencing of term placenta reveals that hypoxia and TNF‐α signaling in syncytiotrophoblasts are featured in maternal obesity, but inflammatory signatures in Hofbauer cells and response to lipid or carbohydrate metabolism in fibroblasts are specific to LGA.
Hong Jiang, Emilie Derisoud, Denise Parreira, Nayere Taebnia, Paulo R. Jannig, Reza Zandi Shafagh, Allan Zhao, Congru Li, Macarena Ortiz, Manuel Alejandro Maliqueo, Elisabet Stener‐Victorin, Volker M. Lauschke, Qiaolin Deng   +12 more
wiley   +1 more source

Caspase‐3/GSDME‐Mediated Trophoblast Pyroptosis and Reciprocal Macrophage Polarization Contribute to Inflammation in Early‐Onset Preeclampsia

Advanced Science, EarlyView.
In trophoblast cells, T/S (TNFα + SM164) activated caspase‐3, which cleaved GSDME to switch apoptosis to pyroptosis, causing cell swelling, membrane rupture, and release of LDH, HMGB1, IL‐1β and IL‐18. These cytokines induced pro‐inflammatory macrophage polarization, which in turn reinforced pyroptotic signaling in trophoblasts, amplifying systemic ...
Baoying Huang, Weinan Deng, Shilei Bi, Yifan Wang, Zhaowei Tu, Lijun Huang, Lili Du, Lizi Zhang, Zhoushan Feng, Wei Sun, Tengfei Liu, Julia Kzhyshkowska, Haibin Wang, Jingsi Chen, Dunjin Chen, Shuang Zhang   +15 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 5 by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 and fetal trisomy 21 in a pregnancy.
Chih-Ping Chen, Schu-Rern Chern, Liang-Kai Wang, Peih-Shan Wu, Fang-Tzu Wu, Yun-Yi Chen, Dai-Dyi Town, Chen-Wen Pan, Wayseen Wang   +8 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