Results 41 to 50 of about 6,199 (168)

Inclusion of adoption as a pregnancy management option in prenatal genetic counseling practice

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract The current study assessed prenatal genetic counselors' experiences, comfort levels, and preparedness in discussing adoption as a pregnancy management option following a prenatal diagnosis of a non‐life‐limiting anomaly and/or genetic condition.
Emma Billings, Leslie Dunnington, Meagan Choates, Syed S. Hashmi, Megan Morand, Pamela Promecene, Stephanie Thompson, Jennifer Czerwinski   +7 more
wiley   +1 more source

Achondroplasia and Down’s Syndrome – Case Report of a Rare Association [PDF]

, 2011
The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that ...
Santos, S, Silva, T, Pinto, M
core   +4 more sources

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
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

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 832-841, May 2026.
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

Functional performance in young Australian children with achondroplasia [PDF]

, 2011
Aim:  The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia. Methods:  Population-based
Savarirayan, Ravi, Zankl, A., SHARRON TOWNSHEND, Ware, R., Ware, Robert S., Ireland, Penelope Jane, Johnston, L., Sillence, D., JAMES MCGILL, Ireland, P., PENELOPE JANE IRELAND, Savarirayan, R., ELIZABETH M THOMPSON, Zankl, Andreas, Johnston, Leanne Marie, McGill, J., Mcgill, James, LEANNE MARIE JOHNSTON, Ault, Jenny, Townshend, Sharron, Thompson, Elizabeth M., Sillence, David O., VERITY PACEY, Townshend, S., Ware, Robert S, Ault, J., Pacey, Verity, McGill, James J., Ault, Jenny E., RAVI SAVARIRAYAN, Pacey, V., ROBERT S WARE, DAVID SILLENCE, Thompson, Elizabeth M, JENNY AULT, ANDREAS ZANKL, Thompson, E., Sillence, David, Ireland, Penelope J.   +38 more
core   +1 more source

A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score. [PDF]

, 2018
BACKGROUND: Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls).
Onambélé-Pearson, GL, Payton, C, Morse, CI, Burden, A, Sims, DT   +4 more
core   +1 more source

Current Care and Investigational Therapies in Achondroplasia [PDF]

, 2017
The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Unger, S., Gouze, E., Sheila Unger, Luisa Bonafé, Elvire Gouze   +5 more
core   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Visual Assessment of Rib Cartilage Mineralization in Thoracic Radiographs as an Indicator of Age in Juvenile Dogs of Various Breeds

Veterinary Radiology &Ultrasound, Volume 67, Issue 3, May 2026.
ABSTRACT Anecdotally, the onset of mineralization of rib cartilage, as visualized by radiographic studies, is assumed to occur at 3 months of age. Determining radiographically the exact day when rib cartilage mineralization begins in juvenile dogs could aid in age estimation of young dogs with unknown histories.
Monika Isabel Hoppe, Carolin Fischer, Mareike‐Kristin Marx, Sebastian Schaub   +3 more
wiley   +1 more source