Results 91 to 100 of about 8,134 (208)

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
A retrospective study of 98 fetuses with congenital duodenal obstruction (CDO) revealed an overall genetic abnormality rate of 20.4%, with trisomy 21 being the predominant chromosomal anomaly. Comprehensive prenatal diagnostic testing is recommended for fetuses with suspected congenital duodenal obstruction, as the genetic findings exert substantial ...
Jianqin Lu, Fang Fu, Fei Guo, Hang Zhou, Ruibin Huang, Huanyi Chen, Chunling Ma, Liyuan Liu, Xiangyi Jing, Simin Yuan, Xiang Zhou, Qiuxia Yu, Manqiu Yang, Jin Han, Dongzhi Li, Ru Li, Can Liao   +16 more
wiley   +1 more source

Eosinophil Cationic Protein Shows Survival Effect on H9c2 Cardiac Myoblast Cells with Enhanced Phosphorylation of ERK and Akt/GSK-3β under Oxidative Stress [PDF]

, 2015
To assess the knowledge and attitudes of pregnant Japanese women regarding non-invasive prenatal testing (NIPT). Between March and June 2013, 557 pregnant women in the Hyogo and Hiroshima Prefectures were surveyed using an anonymous, self-completed ...
Mikamo, Shoko, Nakatsuka, Mikiya
core   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

New molecular tools for prenatal diagnosis [PDF]

, 2016
Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified.
Sahlin, Ellika
core   +1 more source

Direct to consumer testing in reproductive contexts--should health professionals be concerned? [PDF]

, 2015
Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer's own health professional.
Skirton, H
core   +3 more sources

The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women

European Journal of Obstetrics & Gynecology and Reproductive Biology: X
Introduction: Pregnant women can choose from different prenatal genetic tests throughout their maternity journey. We aim to investigate the clinical, societal, and economic determinants influencing the selection of different options (non-invasive ...
Amerigo Ferrari, Federico Pennestrì, Manila Bonciani, Giuseppe Banfi, Milena Vainieri, Rossella Tomaiuolo   +5 more
doaj   +1 more source

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Molecular Cytogenetics, 2023
Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations.
Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak   +11 more
doaj   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Non-Invasive Prenatal Testing: Facilitating Autonomy or Complicating Decision making? [PDF]

, 2016
The context of this presentation is the UK RAPID evaluation study on non-invasive prenatal testing (NIPT) for Downs' syndrome and the future public funding of such a regime.
Wale, Jeffrey
core