Results 91 to 100 of about 5,355 (231)

Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease [PDF]

, 2016
Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treata-ble, in which the termination should be
Megawati, Anak Agung Dewi
core  

A primary cell‐based fluidic co‐culture model to investigate drug transport across the human placenta

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic overview of a flow‐driven in vitro model of the human placental barrier designed to study transport processes during pregnancy. The model recreates key features of the maternal–fetal interface, enabling the investigation of how nutrients and therapeutic compounds cross the placental barrier under physiologically ...
Barbara Fuenzalida, Nadja Koechli, Edgar Ontsouka, Chennakesava Cuddapah, Martin Mueller, Bram Sengers, Frantisek Staud, Christiane Albrecht   +7 more
wiley   +1 more source

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. [PDF]

, 2018
Purpose Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and
A David, A Forlino, Alison Male, BH Griffin, C Lewis, Catherine DeVile, CF Wright, Dagmar Tapon, E Calzolari, E Quinlan-Jones, EJ Kalynchuk, Emma Kivuva, F Fiorentino, FL Mackie, Francesca Faravelli, Jane Hayward, JR Botkin, JS Beckmann, L Chitty, LE Westerfield, LS Chitty, Lyn S Chitty, M Westgren, MJ Landrum, Natalie Chandler, PD Stenson, R Wapner, RC Green, RC Green, S Drury, S Richards, Sahar Mansour, SS Nayak, Sunayna Best, Sunayna Best   +34 more
core   +2 more sources

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

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
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

A Situational Overview of Prenatal Screening Services in Bhutan

Public Health Challenges
Prenatal genetic testing is to determine the possibility of the fetus having a genetic aberration or birth defect. Prenatal screening consists of serum analytes screening with or without nuchal translucency (NT) scanning or with cell‐free DNA (CfDNA ...
Yeshey Dorjey, Tashi Gyeltshen, Thinley Dorji, Don Eliseo Lucero‐Prisno III, Mimi Lhamu Mynak, Sonam Gyamtsho, Tashi Tshomo, Phurb Dorji   +7 more
doaj   +1 more source

Construction and Evaluation of a Ballistic Gelatin‐Based Simulator for Transcervical Chorionic Villus Sampling

Journal of Ultrasound in Medicine, Volume 45, Issue 6, Page 1297-1306, June 2026.
Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F. Nitsche, S. Delaney, Peter Napolitano, Brian C. Brost   +3 more
wiley   +1 more source

Glycogenosis type II (acid maltase deficiency) [PDF]

, 1995
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen.
Bijvoet, A.G.A. (Agnes), Diggelen, O.P. (Otto) van, Hermans, M.M.P. (Monique), Kleijer, W.J. (Wim), Kroos, M.A. (Marian), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Verbeet, M.Ph. (Martin)   +7 more
core   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Placental biomarkers of phthalate effects on mRNA transcription: application in epidemiologic research

Environmental Health, 2009
Background CYP19 and PPARγ are two genes expressed in the placental trophoblast that are important to placental function and are disrupted by phthalate exposure in other cell types.
Nelson Heather, Thaker Harshwardhan M, Whyatt Robin M, Williams Paige L, Hauser Russ, Adibi Jennifer J, Herrick Robert, Bhat Hari K   +7 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source