Performance of non‐invasive prenatal testing when fetal cell‐free DNA is absent

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Performance of non-invasive prenatal testing when fetal cell-free DNA is absent

Numerous studies have validated the accuracy of non-invasive prenatal testing (NIPT) using fetal cell-free DNA (cfDNA) to assess the risk of fetal aneuploidies early in pregnancy1, and we have used this technology in our practice since 2012 in both lowand high-risk women2. We are aware that several factors influence the fraction of fetal cfDNA present in maternal blood. Such factors include ges...

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Technology in the prenatal setting is advancing at an exceptional rate, and these advancements will likely result in major changes to current pregnancy screening and testing paradigms. In Australia, prenatal testing is increasingly becoming a routine part of antenatal care and pregnant women are offered an assortment of screening and diagnostic tests, which give them information about their fet...

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Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA - 5/26/17

National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...

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Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy

Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...

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Noninvasive prenatal testing: the future is now.

Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incid...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics & Gynecology

سال: 2014

ISSN: 0960-7692,1469-0705

DOI: 10.1002/uog.14715