Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions
نویسندگان
چکیده
منابع مشابه
Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome
OBJECTIVES To evaluate the performance of a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow-up and review patient choices for women with high-risk results. METHODS In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP-bas...
متن کاملAdvantages 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 کاملNon-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach
PURPOSE To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13. METHODS Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay tha...
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...
متن کاملSignificant Associations of the rs3104413 Single-nucleotide Polymorphism in the HLA Region with Type 1 Diabetes
Background and Aims: In this study, the effect of rs310441 polymorphism in the human leukocyte antigen (HLA) region on the development of susceptibility or resistance to Type 1 diabetes (T1D) among the people with T1D compared to healthy subjects has been investigated. Materials and Methods: This research, which is based on the examination of 130 cases with T1D and 98 controls, has been carrie...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2017
ISSN: 0009-9163
DOI: 10.1111/cge.13098