Results 81 to 90 of about 13,676 (200)

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Chorionic Villus Sampling: Results of 135 High Risk Cases

Gynecology Obstetrics & Reproductive Medicine, 2006
OBJECTIVE: To assess the data related to the first-trimester chorionic villus sampling performed in a single tertiary center. STUDY DESIGN: Transabdominal CVS perf ormed on 135 pregnant women, aged 18 to 38 y ears, at 11 to 14 weeks’ gestation, who ...
İskender Başer, Sadettin Güngör, Ali Ergün   +2 more
doaj  

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Building low-cost simulators for invasive ultrasound-guided procedures using the V-model

Advances in Simulation, 2023
The use of medical simulators for training technical and diagnostic skills has rapidly increased over the past decade. Yet, most available medical simulators have not been developed based on a structured evaluation of their intended uses but rather out ...
Vilma Johnsson, Martin Grønnebæk Tolsgaard, Olav Bennike Bjørn Petersen, Morten Bo Søndergaard Svendsen   +3 more
doaj   +1 more source

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters [PDF]

, 1995
Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the ...
Heuvel, C.M.M. (C. M M) van den, Huijmans, J.G.M. (Jan), Jakobs, C. (Cornelis), Kleijer, W.J. (Wim), Kraan, M. (M.) van der   +4 more
core   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich, E. W. M. Grijseels, R. Bakx, R. R. Gorter, E. van den Boogaard, E. van Leeuwen, A. Elvan‐Taşpınar, I. H. Linskens, E. Pajkrt   +8 more
wiley   +1 more source

Hemangioblastic foci in human first trimester placenta: distribution and gestational profile [PDF]

, 2015
INTRODUCTION: The human placenta is a site of both hematopoiesis and vasculogenesis. There are reports of hemangioblastic foci (HAF) in the first trimester placenta, but little published information about their spatiotemporal incidence.
Aplin, Barcena, Boyd, Bushway, Carolyn J.P. Jones, Challier, Chen, Chhabra, Demir, Dempsey, Fantin, Gekas, Gekas, Gerhardt, Gomez Perdiguero, Hamilton, Hannah Whittaker, Jayne Charnock, John D. Aplin, Jones, Jones, Keator, Lang, Mikkola, Pereda, Rhodes, Robin, Robin, Schmidt, Serikov, Stefanie Swietlik, Sturgeon, Van Handel, Vodyanik, Yu Ting Jana Lim, Zhang   +35 more
core   +1 more source

Reproductive Decision‐Making Among BRCA1/2 Pathogenic Variants Carriers and Physicians: Attitudes Toward Preimplantation and Prenatal Genetic Testing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The objective of this paper is to investigate the knowledge and attitudes of BRCA1/2 pathogenic variant carriers and gynecologists regarding preimplantation genetic tests for monogenic diseases (PGT‐M) and prenatal diagnosis (PND).
Marta D'Alonzo, Silvia Actis, Giulia Lavalle, Simona Suraci, Luca Pace, Valentina Elisabetta Bounous, Annamaria Ferrero   +6 more
wiley   +1 more source

Colchicine causes prenatal cell toxicity and increases tetraploid risk

BMC Pharmacology and Toxicology, 2019
Background Colchicine is a clinical medicine used for relief from gout and familial Mediterranean fever. Because of its toxic effects, intravenous injection of colchicine has been banned, but it is still widely administered orally.
Ding Wang, Yingjun Xie, Minyi Yan, Qianying Pan, Yi Liang, Xiaofang Sun   +5 more
doaj   +1 more source