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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFIncidental Detection of Maternal Cancer Following Cell-Free DNA Screening for Fetal Aneuploidies.
Clin Chem
January 2025
Prenatal Genomics and Therapy Section, Center for Precision Health Research, National Human Genome Institute, National Institutes of Health, Bethesda, MD, United States.
Background: Prenatal cell-free DNA (cfDNA) screening is a success story of clinical genomics that has translated to and transformed obstetric care. It is a highly sensitive and specific method of screening for the most common fetal aneuploidies, including trisomies 13, 18, and 21. While primarily designed to detect fetal chromosomal abnormalities, the test also analyzes maternal cfDNA, which can complicate interpretation of results.
View Article and Find Full Text PDFIndications of Amniocentesis and its Early and Late Complications.
Adv Biomed Res
October 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
Background: Currently, it is recommended to arrange screening for all women who are referred for prenatal care before the 20 week of gestation. Congenital and genetic diseases lead to disability and death in 3% of babies. Prenatal diagnosis is the only way to prevent the birth of babies with genetic disorders.
View Article and Find Full Text PDFExpanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.
Medicine (Baltimore)
December 2024
Xuzhou Clinical College of Xuzhou Medical University, Xuzhou Central Hospital, Xuzhou, China.
Rationale: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action.
Patient Concerns: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes.
Untargeted Lipidomic Profiling of Amniotic Fluid Reveals Dysregulated Lipid Metabolism in Healthy Normal-Weight Mothers with Fetal Macrosomia.
Nutrients
November 2024
School of Human Nutrition, McGill University, Ste-Anne de Bellevue, QC H9X 3V9, Canada.
Article Synopsis
- - The study aims to investigate the lipid profiles in early 2nd trimester amniotic fluid of healthy normal-weight mothers who have either large-for-gestational age (LGA) or appropriate-for-gestational age (AGA) infants, while also examining the relationship between lipid profiles and insulin/glucose levels.
- - Researchers analyzed bio-banked amniotic fluid samples using advanced mass spectrometry techniques, comparing 15 LGA infants to 15 AGA infants and identified significant differences, including higher levels of specific phosphatidic acid species in LGA samples.
- - The results suggest that even in healthy normal-weight mothers, there are early signs of disrupted lipid metabolism when carrying LGA infants, with no correlation found
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