Results 31 to 40 of about 3,827 (184)

NIPT for adult‐onset conditions: Australian NIPT users' views

Bioethics
AbstractNoninvasive prenatal testing (NIPT) has become widely available in recent years. While initially used to screen for trisomies 21, 18, and 13, the test has expanded to include a range of other conditions and will likely expand further. This paper addresses the ethical issues that arise from one particularly controversial potential use of NIPT ...
Marks, IR, Devolder, K, Bowman‐Smart, H, Johnston, M, Mills, C   +4 more
openaire   +3 more sources

Association of Neck and Back Angle with Muscle Endurance Among Asymptomatic Smartphone Users: A Correlation Study

International Journal of Physiotherapy
Background: Smartphones are becoming prevalent in daily life, but continuous use, especially among young adults, is frequently linked to poor posture, such as neck flexion, which can lead to musculoskeletal problems and muscular weakness.
Sanjana K G, Nityal Kumar Alagingi
doaj   +1 more source

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

BMC Pregnancy and Childbirth, 2017
Background The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of
Kerry Oxenford, Rebecca Daley, Celine Lewis, Melissa Hill, Lyn S. Chitty   +4 more
doaj   +1 more source

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era [PDF]

Clinical Case Reports, 2020
AbstractIn the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
Evy Vervecken, Bettina Blaumeiser, Tina Vanderheyden, Jan Hauspy, Katrien Janssens   +4 more
openaire   +4 more sources

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication

Journal of Comparative Effectiveness Research, 2023
Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: According to the different indications for amniocentesis, the study was divided into 8 ...
Yi Liu, Xue-Cheng Sun, Guo-Jian Lv, Ji-Hong Liu, Chen Sun, Kai Mu   +5 more
doaj   +1 more source

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

Journal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang, Jiutong Zhang, Ji Zhang, Qiujie Jin, Yating Wang, Qiuhua Wu, Fengrui Shi, Rui Wang, Yunping Liu, Na Cai, Xiaobin Wang, Rong Qiang   +11 more
wiley   +1 more source

Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors: a qualitative study with obstetric providers

BMC Health Services Research, 2018
Background Cell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with ...
Olivia Miu Yung Ngan, Huso Yi, Shenaz Ahmed   +2 more
doaj   +1 more source

Sequencing Shorter cfDNA Fragments Decreases the False Negative Rate of Non-invasive Prenatal Testing

Frontiers in Genetics, 2020
Circulating fetal cell-free DNA (cfDNA) is generally shorter than maternal cfDNA. Size selection of shorter cfDNA in total cfDNA could significantly increase the fetal fraction, but there are few reports of using this method to decrease the false ...
Ying Xue, Ying Xue, Guodong Zhao, Guodong Zhao, Longwei Qiao, Longwei Qiao, Jiafeng Lu, Jiafeng Lu, Bin Yu, Ting Wang, Ting Wang   +10 more
doaj   +1 more source

Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening

Journal of Clinical Laboratory Analysis, EarlyView.
In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha, Anupong Pansuwan, Hataichanok Srivorakun, Attawut Chaibunruang, Supawadee Yamsri, Wanicha Tepakhan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen   +8 more
wiley   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source