Results 31 to 40 of about 550 (151)

Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population‐based cohort study in the Netherlands

Paediatric and Perinatal Epidemiology, Volume 36, Issue 6, Page 804-814, November 2022., 2022
Abstract Background Prenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy. Objective This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10‐year period when the prenatal screening ...
Francesca Bardi, Jorieke Elisabertha Hermina Bergman, Nicole Siemensma‐Mühlenberg, Ayten Elvan‐Taşpınar, Hermien Evelien Klaaske de Walle, Marian Karolien Bakker   +5 more
wiley   +1 more source

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

American Journal of Medical Genetics Part A, Volume 188, Issue 9, Page 2834-2849, September 2022., 2022
Abstract Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice.
Paul R. Mark
wiley   +1 more source

Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening

Prenatal Diagnosis, Volume 42, Issue 10, Page 1242-1252, September 2022., 2022
Abstract Introduction Since 2021, first‐trimester anatomical screening (FTAS) is offered in the Netherlands alongside genome‐wide cell‐free DNA (cfDNA). Previously, only second‐trimester anatomical screening (STAS) was offered. This study identifies structural abnormalities amenable to first‐trimester diagnosis detected at/after STAS in the period ...
Francesca Bardi, Anne Marie Beekhuis, Marian K. Bakker, Ayten Elvan‐Taşpınar, Caterina Maddalena Bilardo   +4 more
wiley   +1 more source

Pentalogy of Cantrell

Astrocyte, 2015
Pentalogy of Cantrell is a rare, congenital disorder characterized by lower sternal defects, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, and/or intracardiac defects. The collective defects result from failure of either differentiation or migration of mesenchymal or mesodermal structures during the embryonic ...
Amy J, Jnah, Desi M, Newberry, Amanda, England   +2 more
openaire   +3 more sources

Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

Birth Defects Research, Volume 114, Issue 13, Page 746-758, August 1, 2022., 2022
Abstract Background Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is not well understood, but cigarette smoking and alcohol exposure may impact diaphragm development.
Julia Finn, Jonathan Suhl, Vijaya Kancherla, Kristin M. Conway, Jacob Oleson, Alpa Sidhu, Eirini Nestoridi, Sarah C. Fisher, Sonja A. Rasmussen, Wei Yang, Paul A. Romitti, the National Birth Defects Prevention Study   +11 more
wiley   +1 more source

Partial Ectopia Cordis: A Case Report [PDF]

Iranian Journal of Neonatology, 2017
Background: One-third of all major congenital anomalies are Congenital heart disease (CHD) and Reported CHD prevalence increased over time and in Asian countries is more than western countries.
Reza Saeidi, Ashraf Mohammadzadeh, Ahmadshah Farhat, Mohammadreza Naghibi, Hassan Birjandi, Saeedreza Lotfi   +5 more
doaj   +1 more source

Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report [PDF]

Iranian Journal of Medical Sciences, 2023
Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings.
Mohammad Reza Edraki, Tara Taheri, Mehran Fereidooni, Hamid Amozgar, Elham Dehghani   +4 more
doaj   +1 more source

Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

Case Reports in Obstetrics and Gynecology, 2014
Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large
Yigit Cakiroglu, Emek Doger, Sule Yildirim Kopuk, Kadir Babaoglu, Eray Caliskan, Gulseren Yucesoy   +5 more
doaj   +1 more source

Pentalogy of Cantrell or Cantrell Syndrome

Journal of Neonatal Surgery, 2019
Please see ...
Muhammad Umar Nisar, Samer Sikander, Nadeem Akhtar, Quratulain Arshad, Maryam Nisar, Mehr-un-Nisa Shahid Baig   +5 more
openaire   +2 more sources

Prenatal Diagnosis of an Unusual Phenotype of Cantrell's Pentalogy: Case Report, and Literature Review [PDF]

Iranian Journal of Neonatology, 2021
Background: Cantrell's pentalogy (CP) is a rare congenital disease caused by morphological changes in the mesoderm. Defects of the lower sternum with ectopia cordis, midline supraumbilical abdominal wall, anterior diaphragm, diaphragmatic pericardium ...
Ivan Aivasovsky-Trotta, Sergio Vergara-Cardenas, Amenaida Ferrer-Marcano, Lorena Rincones-Rojas, Carolina Prieto-Soler, Ana Bracho-Fernández, Isabel Fernández-González, Luis Celis   +7 more
doaj   +1 more source