Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities
نویسندگان
چکیده
منابع مشابه
Limited 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 کاملNon-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 کاملThe clinical utility of genome-wide non invasive prenatal screening.
OBJECTIVE In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD Genome-wide cfDNA analysis was offered to 12 114 pregnant women und...
متن کاملClinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies
OBJECTIVE To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.11.016