نتایج جستجو برای: nipt nanoparticles

تعداد نتایج: 107445  

2015

Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21....

2015
R. Hochstenbach G. C. M. L. Page-Christiaens A. C. C. van Oppen K. D. Lichtenbelt J. J. T. van Harssel T. Brouwer G. T. R. Manten P. van Zon M. Elferink K. Kusters O. Akkermans J. K. Ploos van Amstel G. H. Schuring-Blom

Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. Both cases came to our attention because a fetal anatomy scan at 20 week...

Journal: :Clinical genetics 2016
J Y C Lau H Yi S Ahmed

Individual autonomy in antenatal screening is internationally recognized and supported. Policy and practice guidelines in various countries place emphasis on the woman's right to make her own decision and are related to concepts such as self-determination, independence, and self-sufficiency. In contrast, the dominant perspective in Chinese medical ethics suggests that the family is pivotal in m...

Journal: :Midwifery 2016
Talitha I Verhoef Rebecca Daley Laura Vallejo-Torres Lyn S Chitty Stephen Morris

OBJECTIVE to estimate the costs to women, their friends and family for different antenatal tests in the Down's syndrome (DS) screening pathway. DESIGN questionnaire-based costing study. SETTING eight maternity clinics across the UK. PARTICIPANTS pregnant women (n=574) attending an appointment for DS screening, NIPT or invasive testing between December 2013 and September 2014. MEASUREMEN...

2015
T Takoudes B Hamar

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...

Journal: :Molecular Cytogenetics 2021

Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and decisions in cases. Materials methods We retrospectively analysed 45,773 singleton pregnancies that were subjected to NIPT Maternity Child Health Hospital Anhui Province. The results validated ...

2016
Kunwoo Kim

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...

2014
Irena Hudecova Daljit Sahota Macy M. S. Heung Yongjie Jin Wing S. Lee Tak Y. Leung Yuk Ming Dennis Lo Rossa W.K. Chiu

Recently published international guidelines recommend the clinical use of noninvasive prenatal test (NIPT) for aneuploidy screening only among pregnant women whose fetuses are deemed at high risk. The applicability of NIPT to aneuploidy screening among average risk pregnancies requires additional supportive evidence. A key determinant of the reliability of aneuploidy NIPT is the fetal DNA fract...

2015

Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21....

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Ai-hua Yin Chun-fang Peng Xin Zhao Bennett A Caughey Jie-xia Yang Jian Liu Wei-wei Huang Chang Liu Dong-hong Luo Hai-liang Liu Yang-yi Chen Jing Wu Rui Hou Mindy Zhang Michael Ai Lianghong Zheng Rachel Q Xue Ming-qin Mai Fang-fang Guo Yi-ming Qi Dong-mei Wang Michal Krawczyk Daniel Zhang Yu-nan Wang Quan-fei Huang Michael Karin Kang Zhang

Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed tha...

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