Results 51 to 60 of about 11,570 (268)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Absent ductus venosus: case series from two tertiary centres [PDF]

, 2018
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops.
Berghella V, Ciardulli A, Martinelli P, Maruotti GM, Mazzarelli LL, Saccone G   +5 more
core   +1 more source

MFM Guidance for COVID-19 [PDF]

, 2020
The World Health Organization (WHO) has declared COVID-19 a global pandemic. Healthcare providers should prepare internal guidelines covering all aspect of the organization in order to have their unit ready as soon as possible.
Bellussi, Federica, Berghella, Vincenzo, Boelig, Rupsa C., Saccone, Gabriele   +3 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Fetal nuchal translucency measurement at 11-13 weeks and risk assessment for fetal aneuploidy and cardiac anomalies [PDF]

, 2008
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenUltrasound is currently an integral part of prenatal care. In Iceland, all women are offered one ultrasound examination at 18-20 weeks, to assess fetal health,
Hildur Harðardóttir

core  

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

Predictive value of fetal nuchal translucency [PDF]

Medicinski Glasnik, 2011
Aim To determine the predictive value of fetal nuchal translucency(NT) measurements in the detection of chromosomopathy. Methods The investigation of NT included 317 pregnant women with singleton pregnancies of gestational age of 11 to 14 weeks with ...
Dragan Lončar
doaj  

Automatic Nuchal Translucency Measurement from Ultrasonography [PDF]

, 2013
This paper proposes a fully automatic approach for computing Nuchal Translucency (NT) measurement in an ultrasound scans of the mid-sagittal plane of a fetal head. This is an improvement upon current NT measurement methods which require manual placement of NT measurement points or user-guidance in semi-automatic segmentation of the NT region.
JinHyeong, Park, Michal, Sofka, SunMi, Lee, DaeYoung, Kim, S Kevin, Zhou   +4 more
openaire   +2 more sources

Nuchal translucency and lymphatic system maldevelopment [PDF]

jpme, 2009
Abstract We describe the histological examination of 18 aborted fetuses that had increased nuchal translucency (NT) between 11+0 and 13+6 weeks' gestation. The aim of this study was to assess the corresponding NT anatomic features by immunohistochemical (IHC) investigation.
C. Bellini, M. Rutigliani, BOCCARDO, FRANCESCO, BONIOLI, EUGENIO, CAMPISI, CORRADINO, GRILLO, FEDERICA, T. Bellini, M. Valenzano, FULCHERI, EZIO   +8 more
openaire   +3 more sources