Results 61 to 70 of about 2,707,119 (197)

Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond [PDF]

, 2021
The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders ...
Kohabir, KAV, Erik A. Sistermans, Wolthuis, Rob, Kohabir, Kavish, Rob Wolthuis, Kavish Kohabir, Sistermans, Erik A., Wolthuis, RMF, Sistermans, EA   +8 more
core   +1 more source

An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon

Clinical Case Reports, 2023
Key Clinical Message We present a patient with cri‐du‐chat syndrome secondary to a rare cytogenetic mechanism. Our patient was the product of a dichorionic diamniotic twin pregnancy initially flagged with soft markers on ultrasound and uninformative ...
Devanshi Shukla, Matthew Dinunzio, Samantha Colaiacovo, Anahita Mohseni Meybodi, Maha Saleh   +4 more
doaj   +1 more source

MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3002-3011, September 2026.
Aminoglycosides are broad‐spectrum antibiotics used in the management of severe infections. Aminoglycosides are associated with nephrotoxicity and ototoxicity. Although dosing strategies such as once‐daily administration and therapeutic drug monitoring have reduced the incidence of nephrotoxicity, ototoxicity remains unpredictable and may occur at ...
John H. McDermott, Sian Hilton, Cinzia Dello Russo, Nicola Booth, Simon Drysdale, Philip Howard, Stephen Hughes, Mallinath Chakraborty, Helen McDevitt, Charlotte Alston, Maya Desai, Mike Beadsworth, Adam Reynolds, Serim Min, Katherine Payne, Munir Pirmohamed, William G. Newman   +16 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

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

, 2022
PURPOSE: Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for cancer. Diagnostic routing after malignancy suspicious-NIPT faces many challenges.
Dutch NIPT Consortium
core  

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice

Molecular Genetics & Genomic Medicine, 2021
Objective This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications. Methods We performed a retrospective analysis of a cohort of 20,439 pregnancies
Lingshan Gou, Feng Suo, Yi Wang, Na Wang, Qin Wu, Shunan Hu, Peng Wang, Lize Gu, Man Zhang, Chuanxia Wang, Yan Zhang, Xin Yin, Peng Zhang, Jian Xu, Xingqi Wang, Maosheng Gu   +15 more
doaj   +1 more source

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Frontiers in Genetics, 2023
Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing.
Line Dahl Jeppesen, Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Katarina Ravn, Christian Liebst Toft, Christian Liebst Toft, Maria Bach Laursen, Jakob Hedegaard, Inga Baasch Christensen, Bolette Hestbek Nicolaisen, Lotte Andreasen, Lars Henning Pedersen, Lars Henning Pedersen, Lars Henning Pedersen, Ida Vogel, Ida Vogel, Dorte Launholt Lildballe, Dorte Launholt Lildballe   +19 more
doaj   +1 more source

Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis [PDF]

, 2012
BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders.
Carolyn L. Dent (135429), Oudejans, Cees, White, Helen E., Hall, Victoria J., Chitty, LS, Carolyn L Dent, John A. Crolla (135433), Lyn S. Chitty (135435), Dent, CL, Victoria J. Hall (135431), John A Crolla, White Helen E., Helen E. White (135428), Crolla, John A., Crolla, JA, Hall, VJ, Dent Carolyn L., Hall Victoria J., Chitty, Lyn S., Chitty Lyn S., Helen E White, Dent, Carolyn L., White, HE, Crolla John A., Lyn S Chitty, Victoria J Hall   +25 more
core   +1 more source

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Molecular Genetics & Genomic Medicine, 2019
Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies.
Altug Koc, Ozge Ozer Kaya, Berk Ozyilmaz, Yasar B. Kutbay, Ozgur Kirbiyik, Taha R. Ozdemir, Kadri M. Erdogan, Merve Saka Guvenc, Deniz C. Oztekin, Mehmet Ozeren, Halil G. Pala, Atalay Ekin, Cenk Gezer, Alkim G. Sahingoz Yildirim, Bahar Konuralp Atakul, Secil Kurtulmus, Ugur Turhan, Cuneyt E. Taner   +17 more
doaj   +1 more source

Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report

Case Reports in Women's Health, 2020
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a rare chromosomal disorder that is seen in approximately 1 in every 180,000 live births.
Yuko Tamaki, Yukiko Katagiri, Nahomi Umemura, Naoki Takeshita, Mineto Morita   +4 more
doaj   +1 more source