Results 101 to 110 of about 97,595 (299)

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Allelic segregation and independent assortment in T. brucei crosses: proof that the genetic system is Mendelian and involves meiosis [PDF]

, 2005
The genetic system on Trypanosoma brucei has been analysed by generating large numbers of independent progeny clones from two crosses, one between two cloned isolates of Trypanosoma brucei brucei and one between cloned isolates of T. b.
Annette MacLeod, Alison Tweedie, Sarah McLellan, Sonya Taylor, Anneli Cooper, Lindsay Sweeney, C. Michael R. Turner, Andy Tait, Hoare, Gibson, Tibayrenc, MacLeod, MacLeod, MacLeod, Gibson, Turner, Jenni, Sternberg, Gibson, Tait, Gibson, Le Page, Paindovoine, Hope, Su, Su, Martinelli, Culleton, Martinelli, Su, Shirley, Tait, MacLeod, El-Sayed, Hall, Benson, Gaunt, Tait, Gibson, Schweizer, Gibson, Gibson, Hassold, Hide, Van Den Abbeele   +44 more
core   +1 more source

Prenatal Screening Via cfDNA – Paired‐End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One potential solution is to incorporate fragment size data from paired‐end sequencing (PES).
Susan Hancock, Franchesca Liao, Theresa Boomer, Sung Kim, Eileen de Feo   +4 more
wiley   +1 more source

Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas [PDF]

, 2018
Pilocytic astrocytomas represent the most common glioma subtype in young patients and account for 5.4% of all gliomas. They are characterized by alterations in the RAS–MAP kinase pathway, the most frequent being a tandem duplication on chromosome 7q34 ...
Appay, Romain, Badiali, Manuela, Barets, Doriane, Colin, Carole, Figarella-Branger, Dominique, Fina, Frédéric, Giangaspero, Felice, Korshunov, Andrey, M. Pfister, Stefan, Macagno, Nicolas, Ordioni, Joanna, Padovani, Laëtitia, Scavarda, Didier, T. W. Jones, David   +13 more
core   +3 more sources

Prenatal detection and outcome of major heart defects in a country with universal screening

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Sultan Qaboos University Medical Journal, 2013
Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no ...
Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love   +5 more
doaj  

Integrating Social and Clinical Determinants of Pre‐Eclampsia: A Hierarchical Systematic Review and Conceptual Framework for Prevention

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality, with risk factors reported across a vast literature base fragmented between social and clinical factors. Objective To develop a comprehensive conceptual framework of the strongest risk factors and their relationships contributing to pre‐eclampsia ...
Mai Lei Woo Kinshella, Jeffrey N. Bone, Terteel Elawad, Hiten D. Mistry, Laney Poye, Eleni Tsigas, Deepika Devadas, Violet Mateljan, Marie‐Laure Volvert, Marianne Vidler, Hannah Blencowe, Véronique Filippi, Laura A. Magee, Peter von Dadelszen, The PRECISE Network, Umberto D’Alessandro, Anna Roca, Hawanatu Jah, Andrew Prentice, Melisa Martinez‐Alvarez, Brahima Diallo, Abdul Sesay, Sambou Suso, Baboucarr Njie, Fatima Touray, Yahaya Idris, Fatoumata Kongira, Modou F. S. Ndure, Lawrence Gibba, Abdoulie Bah, Yorro Bah, Marleen Temmerman, Angela Koech, Patricia Okiro, Geoffrey Omuse, Grace Mwashigadi, Mary Goretti Amondi, Consolata Juma, Joseph Mutunga, Moses Mukhanya, Robin Okello, Onesmus Wanje, Isaac Mwaniki, Marvin Ochieng, Emily Mwadime, Esperança Sevene, Corssino Tchavana, Salesio Macuacua, Anifa Vala, Helena Boene, Lazaro Quimice, Sonia Maculuve, Inacio Mandomando, Peter von Dadelszen, Laura A. Magee, Rachel Craik, Marie‐Laure Volvert, Hiten Mistry, Thomas Mendy, Donna Russell, Prestige Tatenda Makanga, Liberty Makacha, Reason Mlambo, Lucilla Poston, Rachel Tribe, Sophie Moore, Tatiana Salisbury, Aris Papageorghiou, Alison Noble, Rachel Craik, Hannah Blencowe, Veronique Filippi, Joy Lawn, Matt Silver, Joseph Akuze, Ursula Gazeley, Judith Cartwright, Guy Whitley, Sanjeev Krishna, Marianne Vidler, Jing (Larry) Li, Jeff Bone, Mai‐Lei (Maggie) Woo Kinshella, Domena Tu, Ash Sandhu, Kelly Pickerill, Carla Carillho, Benjamin Barratt   +87 more
wiley   +1 more source

Effectiveness of Fetal Medicine Foundation’s Non-Biochemical Risk Calculation Algorithm in Detection of Common Trisomies Screening at 11–13 weeks of Gestation: 12 Years’ Experience in Northern Thailand

International Journal of Women's Health
Chayanid Kunanukulwatana, Fuanglada Tongprasert, Suchaya Luewan, Theera Tongsong Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandCorrespondence: Fuanglada Tongprasert, Department of Obstetrics and ...
Kunanukulwatana C, Tongprasert F, Luewan S, Tongsong T   +3 more
doaj  

Trisomy

Citation: 'trisomy' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11321 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Bo Peng, James A. Stadler
  +4 more sources