Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
نویسندگان
چکیده
منابع مشابه
Microarray-Based Cytogenetic Testing Illuminates Congenital Abnormalities, Cancer
Trilochan Sahoo, M.D. is an expert in the development, evaluation, and implementation of microarray-based cytogenomic technologies. A medical doctor by training, his interest in human genetics began early on in his career during his post-doctoral fellowship at Duke University. “My research was focused on identifying the cause of a group of Mendelian genetic disorders,” Dr. Sahoo said. “I moved ...
متن کاملAltered fetal growth, placental abnormalities, and stillbirth
BACKGROUND Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth. METHODS AND FINDINGS Population-based case-control study of all stillbirths a...
متن کاملKaryotype heterogeneity and unclassified chromosomal abnormalities.
In a departure from traditional gene-centric thinking with regard to cytogenetics and cytogenomics, the recently introduced genome theory calls upon a re-focusing of our attention on karyotype analyses of disease conditions. Karyotype heterogeneity has been demonstrated to be directly involved in the somatic cell evolution process which is the basis of many common and complex diseases such as c...
متن کاملMolecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue.
Array comparative hybridization has been used successfully to identify genomic alterations in stillbirth material; however, high DNA quantity and quality requirements may limit its utility in some fetal samples. Molecular inversion probe (MIP) array analysis of FFPE stillbirth autopsy samples circumvents the challenges associated with karyotype and short-term fetal cell culture, requires limite...
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Fibrinogen is essential for the formation of a fibrin clot. Acquired and congenital disorders of fibrinogen may result in decreased concentration or altered function of fibrinogen, often leading to an increased risk of bleeding. Routine coagulation testing and specialized laboratory investigations can guide diagnosis in patients suspected of having a fibrinogen abnormality. This article summari...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2012
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1201569