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Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.
Pediatr Nephrol
March 2025
Nephrology Dialysis and Transplantation, ERKNet Center, Regina Margherita Children's Hospital, Turin, Italy.
Background: Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored.
View Article and Find Full Text PDFCytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.
Diagnostics (Basel)
August 2024
School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations.
View Article and Find Full Text PDFSpontaneous echo contrast and decreased umbilical vein blood flow may predict thrombus formation in fetal intra-abdominal umbilical vein varix.
J Med Ultrason (2001)
July 2024
Department of Obstetrics and Gynaecology, Kobe City Medical Center General Hospital, Kobe, Japan.
Purpose: Fetal intra-abdominal umbilical vein varix (FIUVV) can cause thrombosis, fetal growth restriction (FGR), and intrauterine fetal death (IUFD). However, its management and evaluation to avoid fetal risks have not been elucidated. The aim of this study was to develop a novel method to evaluate fetal risks, including FGR and fetal dysfunction via frequent ultrasound examinations.
View Article and Find Full Text PDFPrenatal magnetic resonance imaging of complex female genitourinary system abnormalities, what the fetal medicine specialist needs to know.
Prenat Diagn
January 2023
Department of Radiology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Complex female genitourinary system anomalies include a wide spectrum of uncommon pathologies, caused from the abnormal separation of the urorectal septum and the urogenital sinus in early embryonic life. The resulting fusion of the distal urinary, genital and intestinal tracts increases the risk of death in utero and alters the normal organ functionality and the quality of life in survivors. An accurate prenatal identification of these pathologies depends mainly on prior suspicion at ultrasound screening, but also requires a solid knowledge of embryology and familiarity with the different patterns of malformation.
View Article and Find Full Text PDFNon-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.
Diagnostics (Basel)
June 2022
AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy.
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main features in 49,XXXXX karyotype include severe intellectual disability with delayed speech development, short stature, facial dysmorphisms, osseous and articular abnormalities, congenital heart malformations, and skeletal and limb abnormalities.
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