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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.
Effect of abnormal placental cord insertion on hemodynamic change of umbilical cord in a tertiary center: a prospective cohort study.
Postgrad Med J
January 2025
Department of Obstetrics and Gynecology, Chung Shan Hospital, No. 11, Ln. 112, Sec. 4, Ren'ai Rd., Da'an Dist., Taipei City 10689, Taiwan.
Background: Our study aims to evaluate the umbilical vein (UV) hemodynamic change in the prenatal cohort of pregnancies diagnosed with abnormal placental cord insertion (aPCI).
Methods: From January 2022 to December 2022, the fetal umbilical cord insertion site was sonographically examined in singleton fetuses, and umbilical cord blood flow was calculated. The umbilical artery and UV Doppler flow indexes were assessed in cases of normal and abnormal cord insertion.
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 PDFCryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged.
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
View Article and Find Full Text PDFOutcomes of fetuses with severe diaphragmatic hernia after fetal endoluminal tracheal occlusion treatment: A series of case reports.
Taiwan J Obstet Gynecol
January 2025
Ultrasound, Chongqing Health Center for Women and Children, Chongqing, China; Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, China. Electronic address:
Objective: To explore outcomes of fetuses with severe congenital diaphragmatic hernia (CDH) after fetal endoluminal tracheal occlusion (FETO) treatment.
Case Report: Fetuses diagnosed with severe CDH and taken FETO for intrauterine treatment from January 2020 to December 2023 were recruited. There was no significant difference in general conditions, as well as O/E LHR and measurements related to CDH (p > 0.
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