Results 31 to 40 of about 9,685 (224)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Introducing Novel Surgical Clinical Correlations Into an Undergraduate Medical Anatomy Course

Clinical Anatomy, EarlyView.
ABSTRACT Anatomy education is a hallmark of many preclinical medical school curricula, but students are often unable to identify the clinical relevance of anatomy and its applications. Vertical curricula that integrate clinical concepts into the preclinical basic science years and vice versa have been shown to benefit student learning and increase ...
Liam McLoughlin, Theofano Zoumpou, George P. Holan, Bao‐Ngoc Nasri, Daniel B. Jones, Jeremy J. Grachan   +5 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Omphalocele and gastrochisis

Journal of Obstetrics and Gynaecology, 2002
Between January 1989 and November 1996 we detected a total of 44 cases of anterior abdominal wall defects comprising 29 with an omphalocele and 15 with gastrochisis. The gestational age at antenatal diagnosis of gastrochisis (mean = 17 weeks, 95% CI = 15-19) was significantly lower than for omphalocele (mean = 19.0 weeks, 95% CI = 17-21).
Hamisu M. Salihu, R. Boos, Werner Schmidt   +2 more
openaire   +3 more sources

Diagnostic Performance of Standardized First Trimester Fetal Echocardiography for the Detection of Congenital Heart Defects

Journal of Clinical Ultrasound, EarlyView.
First trimester fetal echocardiography has high detection rates for early diagnosis of severe congenital heart defects. Standardized first trimester fetal echocardiography may allow early diagnosis of fetuses with congenital heart defects and contribute to the appropriate management of these pregnancies.
Münip Akalın, Emine Eda Akalın, Merve Kara, Esra Esim Büyükbayrak   +3 more
wiley   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, EarlyView.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

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

Hepatic omphalocele in an adult

Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery, 2004
The finding of an untreated omphalocele in adulthood is extremely rare. We report the case of a 29-year-old patient, who presented to us with a congenital defect of the abdominal wall and protrusion of underlying viscera.
D'ANDREA, Francesco, BRONGO S, GRELLA E, GRELLA R, NICOLETTI, Giovanni Francesco   +4 more
openaire   +5 more sources

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich, D. Kunne, J. P. M. Derikx, E. van Leeuwen, I. H. Linskens, E. Pajkrt   +5 more
wiley   +1 more source

Predicting Surfactant Need at Birth: Failed Validation of a Bedside Method Using Gastric Aspirates

Acta Paediatrica, EarlyView.
ABSTRACT Aim To validate a prototype point‐of‐care (POC) test for the lecithin/sphingomyelin (L/S) ratio by identifying the optimal L/S cut‐off for predicting surfactant need in preterm infants < 30 weeks' gestation using gastric aspirates (GAS) sampled at birth and to assess clinical feasibility.
Christian Heiring, Porntiva Poorisrisak, Niklas Breindahl, Gitte Zachariassen, Maria‐Christina Eckardt, Anne‐Cathrine Viuff, Lars Bender, Peter Agergaard, Lise Aunsholt, Tine Brink Henriksen   +9 more
wiley   +1 more source