Results 81 to 90 of about 81,827 (263)

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

Impact of Priming Volume Reduction on Hematocrit Retention in Pediatric Cardiopulmonary Bypass: A Retrospective Analysis

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Retrograde autologous priming and venous antegrade priming replace the cardiopulmonary bypass circuit crystalloid with patient blood to mitigate hemodilution. However, their effectiveness in pediatric patients, particularly when analyzed as continuous variables, remains unclear.
Tokimitsu Hibino, Yusuke Okui, Yoshie Toba, Satoko Kondo, Hiromi Ikegami, Kiyoshi Suzuki, Fumiko Ogura, Hiroshi Masui, Norihisa Kitamoto, Masaaki Koide, Tsutomu Yamazaki   +10 more
wiley   +1 more source

Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis

Ultrasound International Open, 2019
Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211
Elisabeth Wrede, Alexander Johannes Knippel, Pablo Emilio Verde, Ruediger Hammer, Peter Kozlowski   +4 more
doaj   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

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

Prenatal Diagnosis, EarlyView.
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

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Perfil de desarrollo evolutivo de un bebé con una cromosomopatía infrecuente en nacidos vivos [PDF]

, 2014
La trisomía 22 en nacidos vivos se clasifica dentro de las denominadas enfermedades raras o poco frecuentes. Se evalúa el perfil evolutivo de dos niñas (trisomía 22 y trisomía 21), antes y después de la aplicación de un tratamiento de atención temprana.
Robles Bello, María Auxiliadora, Romero Prado, Ana Belén, Sánchez Teruel, David   +2 more
core  

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype

Molecular Genetics and Metabolism Reports
Background: Transient abnormal myelopoiesis (TAM) is a congenital leukemia specific to neonates with Down syndrome (DS) or trisomy 21. However, rare cases of TAM can also occur with acquired trisomy 21 mutations or mosaic trisomy 21, leading to potential
Junpeng Cai, Xiaomin Zhou, Yu Zhou, Guanghuan Pi   +3 more
doaj   +1 more source