Results 31 to 40 of about 6,837 (184)

Genetic aspects of nonimmune hydrops fetalis

Лечащий Врач
Background. Nonimmune hydrops fetalis is a heterogeneous disorder characterized by generalized hyperhydration caused by extracellular accumulation of fluid in the tissues and serous cavities of the fetus, in the absence of signs of immune sensitization ...
H. A. Sarkisyan, S. V. Dumova, E. I. Shabelnikova, A. A. Fadeeva, K. S. Zizyukina, I. Yu. Zyablova, A. P. Khokhlova, O. I. Savateeva, D. M. Muscherova, I. V. Zhuravleva   +9 more
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Safety and Effectiveness of Dimethyl Fumarate in Japanese Patients With Multiple Sclerosis: 2‐Year Post‐Marketing Surveillance Data

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background Dimethyl fumarate (DMF) is an orally administered disease‐modifying drug used for the treatment of multiple sclerosis (MS) in numerous countries worldwide. Aim An ongoing post‐marketing surveillance (PMS) is assessing the real‐world safety and effectiveness of DMF in Japanese patients with MS.
Hirofumi Ochi, Toshiyuki Fukazawa, Takashi Yamamura, Kazumasa Yokoyama, Takashi Ohashi, Ichiro Nakashima, Masanori Mizuno, Hikoaki Fukaura, Izumi Kawachi, Tatsusada Okuno, Ryusuke Sato, Haruki Makioka, Aya Tsuchiya, Michihiro Kanda, Yayoi Sato, Takahiko Saida   +15 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Fetal and neonatal outcome in severe alloimmunization managed with intrauterine transfusion: 18-year experience in a tertiary referral hospital in China

Frontiers in Pediatrics, 2023
BackgroundHemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization, is an important cause of fetal and neonatal morbidity and mortality.
Wenxu Pan, Haiyan Wu, Junlin Chen, Xinyue Mo, Hongxin Wang, Qun Fang, Yijuan Li, Yuefang Huang   +7 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Primary Congenital Lymphedema Complicated by Hydrops Fetalis: A Case Report and Review of the Literature

Case Reports in Obstetrics and Gynecology, 2013
Introduction. Primary congenital lymphedema is a rare disorder associated with insufficient development of lymphatic vessels. Usually most patients present with lower extremity edema seen sonographically.
Paul Singh, Matthew Connell
doaj   +1 more source

Thymic teratoma presenting as non-immune hydrops fetalis

Autopsy and Case Reports, 2018
Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge.
Ameer Hamza, Eleftherios Vouyoukas, Ian Jacob Anderson, Martha Jaye Higgins   +3 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source