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[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.
Metagenomic next-generation sequencing of cerebrospinal fluid: a diagnostic approach for varicella zoster virus-related encephalitis.
Front Cell Infect Microbiol
January 2025
Department of Neurology, Harrison International Peace Hospital, Hengshui, China.
Purpose: Varicella zoster virus-related encephalitis (VZV-RE) is a rare and often misdiagnosed condition caused by an infection with the VZV. It leads to meningitis or encephalitis, with patients frequently experiencing poor prognosis. In this study, we used metagenomic next-generation sequencing (mNGS) to rapidly and accurately detect and identify the VZV pathogen directly from cerebrospinal fluid (CSF) samples, aiming to achieve a definitive diagnosis for encephalitis patients.
View Article and Find Full Text PDFHow Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?
Prenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFPrenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
BMC Med Genomics
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.
View Article and Find Full Text PDFECEL1 mutation in distal arthrogryposis type 5D: A case report.
Eur J Obstet Gynecol Reprod Biol
December 2024
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
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