Whole-genome array as a first-line cytogenetic test in prenatal diagnosis
نویسندگان
چکیده
منابع مشابه
Whole genome sequencing based noninvasive prenatal test
NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...
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Over the years, methods of cytogenetic analysis evolved and became part of routine laboratory testing, providing valuable diagnostic and prognostic information in hematologic disorders. Karyotypic aberrations contribute to the understanding of the molecular pathogenesis of disease and thereby to rational application of therapeutic modalities. Most of the progress in this field stems from the ap...
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Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, n...
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Background: Karyotype analysis has been the standard and reliable procedure for prenatal cytogenetic diagnosis since the 1970s. However, the major limitation remains requirement for cell culture, resulting in a delay of as much as 14 days to get the test results.CGH array technology has proven to be useful in detecting causative genomic imbalances or genetic mutations in as many as 15% of child...
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Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results ofthe affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1 :47,XX,+21); (2) advanced maternal age: 54 cases (1 :47,XXY; 1 :45,X/46,XY mosaicism...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2015
ISSN: 0960-7692
DOI: 10.1002/uog.14745