Results 251 to 260 of about 1,248,660 (327)

Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020. [PDF]

PLoS One
Silvestri Melkan MPI, Ferreira OS, Bassan LCL, Brizot ML, Francisco RPV, Rodrigues AS, Azevedo Carvalho M.   +6 more
europepmc   +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

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar. [PDF]

J Genet Couns
Alkilani HM, El-Akouri K, Farooq A, Shi Z, Al-Shafai M, Stotland M, Khodjet-El-Khil H.   +6 more
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Global, regional, and national differences in the incidence and mortality of digestive congenital anomalies from 1990 to 2021, with projections for future trends. [PDF]

Front Public Health
Yan B, Li W, Li P.
europepmc   +1 more source

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

Prevalence of Congenital Anomalies in Iran. [PDF]

Arch Iran Med
Khaleghnejad-Tabari A, Dastgiri S, Soori H, Ansari-Moghaddam A, Ghaem H, Latifi M, Maracy MR, Aslanabadi S, Roshanzamir F, Forootan HR, Peivaste M, Hoseinpour M, Khaleghnejad-Tabari N, Abbasian A, Haj-Sheykholeslami A.   +14 more
europepmc   +1 more source

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

Risk factors for hospital admission and length of stay for children with and without congenital anomalies: a EUROlinkCAT cohort study. [PDF]

BMJ Paediatr Open
Given J, Garne E, Morris JK, Baldacci S, Ballardini E, Gissler M, Gorini F, Kiuru-Kuhlefelt S, Urhoj SK, Manfrini M, Tan J, Loane M.   +11 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source