Results 51 to 60 of about 3,768 (130)

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 756-770, May 2026.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Risk factors associated with congenital clubfoot in children

Гений oртопедии
Introduction Congenital clubfoot is a frequent malformation of the lower extremities. However, the causes of this pathology in children are still unclear.
Maxim V. Vlasov, Irina V. Musikhina
doaj   +1 more source

THE ERRORS, COMPLICATIONS AND MEASURES FOR ITS PREVENTION IN THE TREATMENT OF SCHOOL AGE CHILDREN WITH CONGENITAL RECURRENT CLUBFOOT BY ILIZAROV METHOD

Travmatologiâ i Ortopediâ Rossii, 2012
Objective. To analyze the errors and complications of treatment of school age children with congenital recurrent clubfoot, treated in RISC «RTO» by transosseous osteosyntesis. Material and methods.
S. S. Leonchuk, G. P. Ivanov, A. S. Neretin, I. I. Martel, V. A. Shestakov   +4 more
doaj   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Current conservative management and classification of club foot: A review

Journal of Pediatric Rehabilitation Medicine, 2016
Clubfoot, known as congenital talipes equinovarus, is one of the complex paediatric foot deformity with the incidence of 1 in every 1000 live births. It consists of four complex foot abnormalities such as forefoot adductus, midfoot cavus, and hindfoot ...
Ganesan Balasankar, Ameersing Luximon, Adel Al-Jumaily   +2 more
doaj   +1 more source

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Prenatal Diagnosis, EarlyView.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 5, Page 635-645, May 2026.
ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
E. Hadi, A. Sorotzkin, L. Haddad, E. Kassif, C. Hoffmann, S. Shrot, S. Shoob, A. Shariv, Y. Mizrachi, M. Levy, Z. Leibovitz, T. Lerman‐Sagie, L. Gindes   +12 more
wiley   +1 more source

CLUBFOOT RECCURENCES AFTER THE TREATMENT BY PONSETI

Travmatologiâ i Ortopediâ Rossii, 2013
Congenital clubfoot is one of the most frequent pathologies of the musculoskeletal system. The treating of clubfoot by Ponseti gives promising results and complete correction of the deformity in 90-95% of patients sparing them from extensive surgery.
V. F. Blandinskiy, M. A. Vavilov, I. V. Gromov   +2 more
doaj   +1 more source