Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion
نویسندگان
چکیده
منابع مشابه
Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues
Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be in...
متن کاملNon-invasive prenatal testing.
BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...
متن کاملAn Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing
Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex pred...
متن کاملLimited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.
The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a calling pipeline based on a segmentation algorithm for the detection of these rearrangements in mater...
متن کاملChromosome Abnormalities in Prenatal Diagnosis
Objective: To investigate antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between karyotype analysis and FISH (Fluorescent In Situ Hybridization). Method: Were analyzed cytogenetic results from a total of 594 cases between 2008-2009. Amniotic fluid karyotyping and FISH have been offered to pregnant women with genetic risk, using the standard method and ...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-207309