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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Genet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Clinical factors that influence chorionic villus sampling sample size.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Colorado School of Medicine, 12631 East 17th Ave, Aurora, USA.
Purpose: Our primary objective was to characterize clinical and procedural factors affecting sample size in chorionic villus sampling (CVS).
Methods: This retrospective, single-site cohort study included singleton pregnancies undergoing transabdominal (TA) and transcervical (TC) CVS between 2020 and 2023. Prenatal and maternal data were obtained from the electronic medical record.
Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.
Eur J Pediatr
January 2025
Unit of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.
Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all.
View Article and Find Full Text PDFPrenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.
Prenat Diagn
January 2025
Department of Radiology, Guangdong Women and Children Hospital, Guangzhou, China.
Objective: To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI).
Methods: This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed.
Clinical Application of the Fetal HQ Technique in the Evaluation of Normal Fetal Cardiac Function at Different Gestational Weeks.
Echocardiography
January 2025
Department of Ultrasound Diagnosis, Gansu Provincial Maternity and Child-Care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu, P.R. China.
Objectives: To investigate the clinical value of fetal heart quantification (fetal HQ) in the evaluation of normal fetal heart size, morphology, and cardiac function at different gestational weeks.
Materials And Methods: A total of 101 pregnant women diagnosed with a healthy fetus by fetal echocardiography from September 2021 to December 2023 were selected and classified into four different periods of gestational weeks: 20-28 weeks (25 cases), 29-32 weeks (26 cases), 33-36 weeks (26 cases), and 37-40 weeks (24 cases). Quantitative analyses were performed by automatically tracking the endocardium using fetal HQ software that comes with the Voluson E10 from GE.
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