Results 61 to 70 of about 8,111 (187)

Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome

Case Reports in Pediatrics, 2021
Thoracic empyema usually occurs as a complication of bacterial pneumonia, but in rare cases, it is caused by hematogenous dissemination secondary to nonpulmonary diseases.
Takeru Oikawa, Chiharu Ota, Shinya Iwasawa, Takehiko Onoki, Hideyuki Ikeda, Takushi Hanita   +5 more
doaj   +1 more source

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
In this work, we evaluated the utility of whole exome sequencing in fetuses with isolated increased nuchal translucency. Our analysis revealed a low diagnostic yield (2.5%) for prenatal WES in cases of isolated increased NT ≥ 3.0 mm. Our findings provide valuable evidence for clinical counseling.
Hui Wang, Caiqun Luo, Qian Geng, Xiaoxin Xu, Yang Liu   +4 more
wiley   +1 more source

PRENATAL INVESTIGATION AND MANAGEMENT OF NON-IMMUNE HYDROPS FETALIS [PDF]

Background: Advances in medicine have significantly improved our ability to address various diseases affecting the unborn child, with fetal medicine emerging as a rapidly evolving field.
A, Pulatova G, B, Yusupbaev R
core   +1 more source

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, Volume 199, Issue 2, Page 124-133, June 2025.
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

Successful use of doxycycline pleurodesis in non-immune hydrops fetalis secondary to congenital chylothorax

Journal of Pediatric Surgery Case Reports, 2018
Congenital chylothorax is a rare presentation of nonimmune hydrops fetalis (NIHF). We report a case of congenital chylothorax presenting as NIHF managed successfully with chemical pleurodesis.
Vilmaris Quinones Cardona, MD, Michelle Clark, MD, Margaret Gilfillan, MD, Randy Stevens, MD   +3 more
doaj   +1 more source

Fetal Echocardiography Characteristics in a Tertiary Center

Erciyes Medical Journal, 2020
Objective: Fetal echocardiography is an important and growing diagnostic tool for early detection of congenital heart diseases and rhythm problems. In this study, we evaluated retrospectively indications and prenatal and postnatal diagnoses for fetal ...
Elif Erolu, Özlem Sarısoy
doaj   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Intrauterine Anoxic Brain Damage in Nonimmune Hydrops fetalis

, 1986
A case is presented of a live-born infant with nonimmune hydrops fetalis who survived for 9 h. Neuropathological examination revealed extensive neuronal loss and gliosis in the subcortical gray nuclei suggestive of anoxic brain damage some weeks before ...
Henry Urich, Joyce A. Kobori
core   +1 more source

C1GALT1C1‐Associated Mosaic Disorder of Glycosylation in a Female

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Cosmc, encoded by the X‐linked C1GALT1C1, is a molecular chaperone in the endoplasmic reticulum and a master regulator of O‐glycosylation of mammalian glycoproteins. Recently, we described a germline mutation in C1GALT1C1 in two male patients, giving rise to a congenital disorder of glycosylation—COSMC‐CDG.
Rajindra P. Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg‐Molinaro, Sandra F. Cummings, Florian Erger, Bodo B. Beck, Laurie H. Seaver, Richard D. Cummings   +9 more
wiley   +1 more source

Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis

, 2017
<b><i>Introduction:</i></b> The objectives of this study were to evaluate the outcome of nonimmune hydrops fetalis in an attempt to identify independent predictors of perinatal mortality. <b><i>Material and Methods:<
Oluyinka O. Olutoye, Ahmed A. Nassr, Victoria Berger, Sundeep Keswani, Alexis S. Davis, Eleonore Werner, Jimmy Espinoza, Timothy C. Lee, Alireza A. Shamshirsaz, Amir A. Shamshirsaz, Amen Ness, Pardis Hosseinzadeh, Michael A. Belfort, Bahram Salmanian, Stephen Welty, Zhoobin H. Bateni, Darrell L. Cass, Rodrigo Ruano, Edwina Popek, Hadi Erfani   +19 more
core   +1 more source