Publications by authors named "Daniela Koeller Rodrigues Vieira"

Article Synopsis
  • Low-pass whole genome sequencing (LP-WGS) offers a cheaper method for detecting copy number variants (CNVs) compared to chromosomal microarray analysis (CMA), providing similar resolution for CNV detection.
  • In a study with 1,363 patients experiencing neurodevelopmental challenges, LP-WGS yielded a positive result in 22% of cases, with 16% being diagnostic for pathogenic CNVs, comparable to CMA's diagnostic rates.
  • The study highlights LP-WGS as a practical solution for countries like Brazil where CMA costs are high, making it easier to implement in clinical settings with the help of commercial software.
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Background: The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types.

Methods: Using Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019.

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Identification of families with history of cancer in the municipality of Angra dos Reis, Rio de Janeiro (Brazil), through the Brazilian Unified Primary Health Care System was explored based in the Community Health Agents (CHA) program. This study was divided into two phases: a descriptive one with a cross-sectional epidemiological data of families with history of cancer based on CHA-collected data from home visits in four primary health care units. The second phase consisted in identifying familial clustering of three or more individuals with cancer through construction of a three-generation pedigree and revisited by an itinerant group of medical geneticists.

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