Results 131 to 140 of about 133,704 (263)

Prevalence of Congenital Anomalies in Live-Born Infants in Iran: Clinical, Environmental, and Demographic Perspectives. [PDF]

J Epidemiol Glob Health
Hojati M, Izadi S, Mansourian M.
europepmc   +1 more source

The Impact of Genetic Polymorphisms on Genotoxicity (DNA Damage) Among Children Exposed to Environmental Mutagens: A Systematic Review

Journal of Applied Toxicology, EarlyView.
ABSTRACT Children, as a particularly vulnerable group, are more susceptible to these mutagens due to their developing immune systems, higher physiological vulnerability, and increased exposure through behaviors like outdoor play and hand‐to‐mouth activities. This review aims to investigate the relationship between these environmental exposures, genetic
Thiago Guedes Pinto, Daniel Vitor de Souza, Gabriel Carvalhal de Aguiar, Ana Claudia Muniz Renno, Patricia Ramos Cury, Jean Nunes dos Santos, Rogerio Aparecido Dedivitis, Daniel Araki Ribeiro   +7 more
wiley   +1 more source

The Impact of Congenital Anomalies of the Male and Female Reproductive Organs on Infertility and Recurrent Pregnancy Loss: A Review. [PDF]

Medicina (Kaunas)
Petrovic B, Kostic S, Jovanovic IM, Petronijevic M, Petronijevic M, Hudic I, Vrzic Petronijevic S.   +6 more
europepmc   +1 more source

Detection and Clinical Significance of Chromosomal Mosaicism in Prenatal Diagnosis: A Retrospective Study From a Prenatal Diagnosis Center

Journal of Clinical Laboratory Analysis, EarlyView.
This retrospective study of 79 prenatal mosaicism cases found that noninvasive prenatal testing (NIPT) had significantly higher sensitivity (90.74%) than first‐ and second‐trimester serum screening, while chromosomal microarray analysis (CMA) showed better concordance with karyotyping (90.00%) than QF‐PCR (58.21%).
Yuanyuan Pei, Xiaojin Luo, Jian Ran, Liang Hu, Weiqiang Liu, Fengxiang Wei   +5 more
wiley   +1 more source

Societal costs associated with mothers of children with major congenital anomalies: a population-based matched cohort study in Denmark. [PDF]

BMJ Public Health
Kim KM, Horváth-Puhó E, Narayan A, Wong V, Skipper N, Shah NR, Cohen E, Sørensen HT, Milstein A.   +8 more
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC. [PDF]

J Community Genet
Senior BJ, Negri J, Camelo JL.
europepmc   +1 more source

Percutaneous Closure of Patent Foramen Ovale in a Patient With Incomplete Cor Triatriatum Sinister: A Case Report

Journal of Clinical Ultrasound, EarlyView.
We present the case of a 55‐year‐old male who experienced a cryptogenic ischemic stroke, likely due to a patent foramen ovale (PFO) in the setting of an incomplete cor triatriatum sinister (CTS) and a 30 mm GORE Cardioform Septal Occluder was successfully implanted.
Anastasios Apostolos, Maria Drakopoulou, Elias Tolis, Georgios Trantalis, Ioannis Kachrimanidis, Panayotis Vlachakis, Konstantinos Tsioufis, Konstantinos Toutouzas, Konstantina Aggeli   +8 more
wiley   +1 more source

Large population-based assessment of SARS-CoV-2 teratogenicity by profiling congenital anomalies during COVID-19 pandemic. [PDF]

J Turk Ger Gynecol Assoc
Jehangir S, Navaneethan PR, Karuppasami R, Beck MM, Ross BJ, Kumar M, Santhanam S, Kisku S, Fletcher J.   +8 more
europepmc   +1 more source