Results 81 to 90 of about 27,980 (286)

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Newborn male presented with congenital diaphragmatic hernia and choledochal cyst: A case report

Journal of Pediatric Surgery Case Reports, 2015
Infants with congenital diaphragmatic hernia (CDH) have an increased incidence of associated malformations, ranging from 10% to 50% higher than the general population [1–5]. Choedochal cysts, congenital cystic dilations of the biliary tree, are anomalies
Daniel Krebs, Richard S. Herman, Christopher Blewett   +2 more
doaj   +1 more source

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]

, 2019
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv   +1 more source

Congenital diaphragmatic hernia: the impact of embryological studies [PDF]

, 1995
In recent years, a substantial research effort within the specialty of pediatric surgery has been devoted to improving our knowledge of the natural history and pathophysiology of congenital diaphragmatic hernias (CDH) and pulmonary hypoplasia (PH ...
Ekesparre, M. (Martin) von, Kluth, A. (Antje), Lambrecht, W. (Wolfgang), Tander, B. (Burak), Tibboel, D. (Dick)   +4 more
core   +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

Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]

arXiv, 2020
Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv  

Changes in vasoactive pathways in congenital diaphragmatic hernia associated pulmonary hypertension explain unresponsiveness to pharmacotherapy [PDF]

, 2017
Background: Patients with congenital diaphragmatic hernia (CDH) have structural and functional different pulmonary vessels, leading to pulmonary hypertension.
Buscop-Van Kempen, M. (Marjon), Mous, D.S. (Daphne), Rottier, R.J. (Robbert), Tibboel, D. (Dick), Wijnen, R.M.H. (René)   +4 more
core   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Congenital diaphragmatic hernia in a 2-year-old resembling a tension pneumothorax

Journal of Pediatric Surgery Case Reports, 2019
This case presents a child with a late presentation of a congenital diaphragmatic hernia in extremis with features suggestive of tension pneumothorax.
Yoonyoung Yves Choi, Aoife Bridget Rice, Roy Mark Kimble   +2 more
doaj  

Multipotent mesenchymal stromal cell therapy for a neonate with congenital diaphragmatic hernia and adhesive small bowel obstruction

The Turkish Journal of Pediatrics
Background. In the last decade, therapy using multipotent mesenchymal stromal cells (MSCs) has offered hope for regenerating the lungs of preterm babies with chronic lung disease. Due to similar disease mechanisms, it is logical to explore the potential
Şükran Yıldırım, Aliye Kandırıcı
doaj   +1 more source