Advantages of the single nucleotide polymorphism- based noninvasive prenatal test
نویسنده
چکیده
the placenta into the maternal circulation as the cells break down (apoptosis) and the DNA becomes fragmented [4,5]. Circulating fetal cfDNA comprises approximately 3-13% of the total maternal cfDNA. These DNA fragments can be detected as early as 4 weeks of gestation and are generally cleared out within 2 hours after childbirth [6-8]. A noninvasive prenatal test (NIPT) using cfDNA has proven to be highly sensitive and specific for detecting trisomy 21 in both highand low-risk groups [1,2,9,10]. At present, there are about five major companies providing commercial NIPT services globally (Fig. 1). NIPT using cfDNA is now available through these providers in more than 60 countries. According to business reports, over 500,000 NIPT studies on women with a high risk for fetal aneuploidy were performed in the United States in 2013 [11]. These companies have published several articles showing that their own method is very effective for screening for trisomy 21, 18, and 13 Advantages of the single nucleotide polymorphismbased noninvasive prenatal test
منابع مشابه
Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.
The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) informat...
متن کاملClinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
OBJECTIVE We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a single-nucleotide polymorphism-based noninvasive prenatal aneuploidy test in high- and low-risk women. STUDY DESIGN All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisom...
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NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...
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Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DN...
متن کاملComment on “Commercial landscape of noninvasive prenatal testing in the United States”
We read with interest the recent review in Prenatal Diagnosis entitled “Commercial landscape of noninvasive prenatal testing in the United States” by Ashwin Agarwal et al. We appreciate the attention afforded to the business and intellectual property landscape given by noninvasive prenatal testing's rapid evolution. However, Agarwal et al. misrepresented the current commercial turnaround time f...
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