Results 51 to 60 of about 6,378 (227)

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes

Molecular Genetics & Genomic Medicine, 2020
Background Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal genetic abnormalities. However, the ability of NIPT to detect copy number variations (CNVs) has not been reported.
Yuanyuan Pei, Liang Hu, Jinxing Liu, Lijuan Wen, Xiaojin Luo, Jian Lu, Fengxiang Wei   +6 more
doaj   +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

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Optimal risk cutoffs and the number of women receiving NIPT for contingent NIPT policies.

, 2015
Optimal risk cutoffs and the number of women receiving NIPT for contingent NIPT policies.
Richard E. Nelson (764526), Brian R. Jackson (233567), Edward R. Ashwood (764528), David G. Grenache (764527), Brandon S. Walker (764525), Robert L. Schmidt (764529)   +5 more
core   +1 more source

Non-invasive prenatal testing (NIPT): is routinization problematic?

BMC Medical Ethics, 2023
Abstract Background The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis. ‘Routinization’ of prenatal diagnosis however has been associated with hampered informed choice and eugenic attitudes or outcomes.
Christoph Rehmann-Sutter, Daniëlle R. M. Timmermans, Aviad Raz   +2 more
openaire   +4 more sources

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Result of Prospective Validation of the Trisomy Test^® for the Detection of Chromosomal Trisomies

Diagnostics, 2019
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing.
Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik   +11 more
doaj   +1 more source

NIPT in a clinical setting: patient decisions and pregnancy outcomes [PDF]

, 2014
Noninvasive prenatal testing (NIPT) has recently become clinically available for\ud screening of fetal trisomies, creating an alternative to California State Prenatal\ud Screening (CaPNS) as well as prenatal diagnostic tests.
Kenyon, Carly
core   +2 more sources

Impact of Hand Grip and Shoulder Muscle Strengthening Programme on Performance in Air Rifle Shooters

International Journal of Physiotherapy
Background: Air rifle shooting is a precision sport requiring stability, muscle endurance, and fine motor control. Hand grip strength and shoulder muscle stability are critical for accuracy and consistency.
Revanth Gowda M C, Purusotham Chippala
doaj   +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