Results 71 to 80 of about 15,005 (199)

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen, Heleen H. Arts, Erica Schollenberg, Samantha Kinley, Erika Aberg, Jo‐Ann K. Brock   +5 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

First‐Trimester Down Syndrome Screening in Renal‐Transplanted Pregnant Women: Blood Creatinine Levels Impact False‐Positive Rate

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Over the past few decades, several thousand pregnancies following kidney transplantation have been monitored but few studies have reported on first‐trimester Down syndrome screening. This study aimed to assess the performance of such screening and its relationship with renal function.
Clément Burgy, Lisa Chanourdie, Béatrice Guyard‐Boileau, Anne‐Laure Hebral, Annelise Genoux, Marie‐Sophie Combis, Paul Guerby, Christophe Vayssiere, Safouane M. Hamdi   +8 more
wiley   +1 more source

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World

Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group   +6 more
wiley   +1 more source

Clinical and economic impact of universal screening for cytomegalovirus infection among pregnant women in Italy

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the clinical and economic impact of universal screening for cytomegalovirus (CMV) in pregnant women in Italy, with valacyclovir (VCV) therapy in the case of maternal primary CMV infection, compared with no screening. Methods We developed a decision‐analytic model using a deterministic decision tree and compared the no ...
S. Ornaghi, L. Zammarchi, F. Fernicola, M. Tavanti, V. P. De Chaurand, S. Boccalini   +5 more
wiley   +1 more source

Effectiveness of Virtual Reality for Pain Relief in Procedures Related to Obstetrics and Gynaecology: A Systematic Review and Meta‐Analysis of Randomised Controlled Trials

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Immersive virtual reality (VR) technology offers a non‐invasive, non‐pharmacological approach to reduce pain perception in patients undergoing diagnostic or interventional procedures. Objective To systematically evaluate the efficacy of immersive VR technology in reducing pain perception during obstetric and gynaecological ...
Jhia Jiat Teh, Filipa Campos, Adam Koczoski, Trisha Valencia, Michael P. Rimmer, Bassel H. Al Wattar   +5 more
wiley   +1 more source