Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners
نویسندگان
چکیده
منابع مشابه
Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners
The field of prenatal genetic testing has exploded with new non-invasive technologies and test options in the past several years. It is challenging for women's healthcare providers to keep up with the multitude of publications and provide patients with the most accurate and up-to-date information possible regarding prenatal testing. In this article, we examine the sequencing technologies that p...
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 کاملFactors Affecting the Clinical Use of Non-Invasive Prenatal Testing
Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic...
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 کاملSample Specific Fetal Fraction Threshold for Non-Invasive Prenatal Testing
SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...
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ژورنال
عنوان ژورنال: Current Genetic Medicine Reports
سال: 2013
ISSN: 2167-4876
DOI: 10.1007/s40142-013-0010-x