Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis
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چکیده
منابع مشابه
I-45: FISH and Array CGH for PGD of Cancer
We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...
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Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and ...
متن کاملP-243: Prenatal Diagnosis Using Array CGH: Case Presentation
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...
متن کاملThe array CGH and its clinical applications.
Array comparative genomic hybridization (aCGH) is a technique enabling high-resolution, genome-wide screening of segmental genomic copy number variations (CNVs). It is becoming an essential and a routine clinical diagnostic tool and is gradually replacing cytogenetic methods. Most of the clinically available aCGH platforms are designed to detect aneuploidies, well-characterized microdeletion/mi...
متن کاملSmoothing waves in array CGH tumor profiles
MOTIVATION Many high-resolution array comparative genomic hybridization tumor profiles contain a wave bias, which makes accurate detection of breakpoints in such profiles more difficult. RESULTS An efficient and highly effective algorithm that largely removes the wave bias from tumor profiles by regressing the tumor profile data on data of profiles from the clinical genetics practice. Results...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2016
ISSN: 0197-3851
DOI: 10.1002/pd.4843