Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
نویسندگان
چکیده
منابع مشابه
Advantages of the single nucleotide polymorphism- based noninvasive prenatal test
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 t...
متن کاملValidation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies.
OBJECTIVE To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 trisomy 18, 15 trisomy 13, 9 monosomy X, 4 triploidy...
متن کاملSingle-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.
OBJECTIVE To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture. METHODS One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequence...
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Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clin...
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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ژورنال
عنوان ژورنال: Journal of Genetic Medicine
سال: 2015
ISSN: 1226-1769,2383-8442
DOI: 10.5734/jgm.2015.12.2.66