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Prenatal Predictors and Early Postnatal Outcomes in Fetuses Diagnosed with Tricuspid Atresia.
Diagnostics (Basel)
December 2024
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis.
View Article and Find Full Text PDFClinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDF[Aggressive mucinous tubular and spindle cell carcinoma of the kidney: a clinicopathological and genetic analysis of four cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing100191, China.
To understand the clinicopathological and molecular genetic characteristics of aggressive renal mucinous tubular and spindle cell carcinoma (MTSCC). The clinical features, histology, immunophenotype, molecular characteristics and prognosis of 4 cases of metastatic/recurrent renal MTSCC that were submitted to the Peking University Third Hospital (2 cases), Institute of Urology, Peking University (one case) and Zhejiang Provincial People's Hospital (one case) from 2015 to 2020 were retrospectively reviewed and analyzed. Among the four patients, two were male and two were female.
View Article and Find Full Text PDFImagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFIncidental Detection of Maternal Cancer Following Cell-Free DNA Screening for Fetal Aneuploidies.
Clin Chem
January 2025
Prenatal Genomics and Therapy Section, Center for Precision Health Research, National Human Genome Institute, National Institutes of Health, Bethesda, MD, United States.
Background: Prenatal cell-free DNA (cfDNA) screening is a success story of clinical genomics that has translated to and transformed obstetric care. It is a highly sensitive and specific method of screening for the most common fetal aneuploidies, including trisomies 13, 18, and 21. While primarily designed to detect fetal chromosomal abnormalities, the test also analyzes maternal cfDNA, which can complicate interpretation of results.
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