Results 51 to 60 of about 12,655,449 (158)

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

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

, 2017
<b><i>Objectives:</i></b> To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. <b&
Fabricio da Silva Costa, Andrew McLennan, McLennan, Andrew, Nisbet, Debbie, Louise Kornman, Menezes, Melody, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Kornman, Louise, Melody Menezes, Palma-Dias, Ricardo, Scott, Fergus, Costa, Fabricio da Silva   +13 more
core   +1 more source

Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program [PDF]

, 2022
The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood.
van der Meij, Karuna Rosa Mariyah
core   +1 more source

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs

Molecular Cytogenetics, 2023
Objective To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). Methods The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT.
Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng   +7 more
doaj   +1 more source

Le(s) paysage(s) éthique(s) du dépistage prénatal non invasif en Angleterre, en France et en Allemagne : résultats d’une analyse documentaire comparative

Cahiers Droit, Sciences & Technologies, 2022
In this paper, we analyse how the issues ethical related to the introduction of non-invasive prenatal testing (NIPT) into the public health systems of England, France and Germany are discussed differently across countries, echoing the different cultural ...
Dr Ruth Horn, Dr Adeline Perrot
doaj   +1 more source

Prevalence of Spermatozoa in the Ejaculate of Adolescents With Klinefelter Syndrome: Implications for Fertility Counseling

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is the most common genetic cause of male infertility and is associated with nonobstructive azoospermia. Advances in surgical sperm retrieval techniques have enabled biological fatherhood in a subset of men with KS.
Cecilie N. Larsen, Andrés Felipe Ø. Fritzbøger, Sofia B. Winge, Niels Jørgensen, Anders Juul, Lise Aksglaede   +5 more
wiley   +1 more source

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [PDF]

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology ...
Elvira Di Pasquo, Working Group on Non-invasive Prenatal Diagnosis, Chiara Formigoni, Marco De Santis, Working Group on Invasive Prenatal Diagnosis, Working Group Secretariat, Tiziana Frusca, Maurizio Guido, Tamara Stampalija, Moira Barbieri, Panel of Experts Delegated by Scientific Societies and Stakeholders, Promoting Committee, External Auditors, Tullio Ghi, Enrico M Ferrazzi, M Morlando, Chair and Methodological Group   +16 more
core   +1 more source

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

, 2014
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID ...
Abigail Howarth (16444251), Stephen Morris (324510), Christopher Boustred (16444218), Melissa Hill (548604), Rebecca Daley (3967937), David Wright (116911), Celine Lewis (2591242), Nicholas Lench (209486), Kitty Lo (8177241), Sarah Mason (375898), Kevin Spencer (3548780), Vincent Plagnol (50600), Mark Kroese (16444260), Fiona Mckay (14541479), Lyn S Chitty (16444224), Jane Fisher (423293)   +15 more
core   +1 more source

Genetics‐Informed Pharmacological Intervention in Gestational Diabetes Mellitus: Current Therapeutic Alignment, Emerging Targets and a Translational Roadmap

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Gestational diabetes mellitus (GDM) complicates roughly one in seven pregnancies and predicts later maternal type 2 diabetes mellitus (T2DM). Yet its pharmacological management still rests on a handful of agents (insulin, metformin and glibenclamide), none of them selected on the basis of the disease's molecular genetics.
Wael Osman
wiley   +1 more source