Prenatal diagnosis of Delleman syndrome.

Prenat Diagn

Medical University of Vienna, Center of Anatomy and cell Biology, Integrative Morphology Group, Vienna Austria.

Published: April 2007

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1676DOI Listing

Publication Analysis

Top Keywords

prenatal diagnosis
4
diagnosis delleman
4
delleman syndrome
4
prenatal
1
delleman
1
syndrome
1

Similar Publications

Giant encephalocele in newborns: prenatal diagnosis, management and outcome.

Childs Nerv Syst

January 2025

Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.

Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.

Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.

View Article and Find Full Text PDF

Objectives: Pregnancies affected by opioid use disorder (OUD) face difficulties with postpartum pain control. This study aims to determine if prenatal anesthesia consultation for patients on medication for opioid use disorder (MOUD) affects maternal postpartum pain control.

Methods: This is a retrospective cohort study of pregnant patients diagnosed on MOUD who received prenatal care and delivered at a single academic institution between January 2017 and July 2023.

View Article and Find Full Text PDF

Umbilical Artery Thrombosis Masquerading as Single Umbilical Artery in a Stillbirth.

Diagnostics (Basel)

January 2025

Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.

Umbilical artery thrombosis (UAT) masquerading as a single umbilical artery (SUA) is a rare but critical diagnostic challenge in prenatal care. We described a case of a 22-year-old primigravida with an uneventful obstetric history who presented with reduced fetal movements at 22 weeks of gestation. Ultrasound showed no gross fetal structural anomalies while umbilical artery Doppler flow imaging revealed an isolated SUA.

View Article and Find Full Text PDF

The Emerging Role of Sonoelastography in Pregnancy: Applications in Assessing Maternal and Fetal Health.

Diagnostics (Basel)

December 2024

Radiology and Medical Imaging Department, College of Applied Medical Sciences, Prince Sattam bin Abdulaziz University, Al-Kharj 16278, Saudi Arabia.

Sonoelastography, a novel ultrasound-based technique, is emerging as a valuable tool in prenatal diagnostics by quantifying tissue elasticity and stiffness in vivo. This narrative review explores the application of sonoelastography in assessing maternal and fetal health, with a focus on cervical, placental, pelvic floor, and fetal tissue evaluations. In the cervix, sonoelastography aids in predicting preterm birth and assessing labor induction success.

View Article and Find Full Text PDF

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.

Taiwan J Obstet Gynecol

January 2025

Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:

Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!