Publications by authors named "Natasa Dzidic"

Article Synopsis
  • Scientists wanted to find out what causes pregnancy loss and if certain genetic problems are involved.
  • They looked at a lot of samples from people who had miscarriages to check for these genetic issues.
  • Their findings showed that a high percentage of samples had significant genetic problems, which can help doctors understand and manage patients better in the future.
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Purpose: Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we evaluate copy-number variant (CNV) calling as part of a clinically accredited GS test.

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Objective: The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping.

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Purpose: Chromosomal microarray analysis (CMA) is currently considered first-tier testing in pediatric care and prenatal diagnosis owing to its high diagnostic sensitivity for chromosomal imbalances. The aim of this study was to determine the efficacy and diagnostic power of CMA in both fresh and formalin-fixed paraffin-embedded (FFPE) samples of products of conception (POCs).

Methods: Over a 44-month period, 8,118 consecutive samples were received by our laboratory for CMA analysis.

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