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Caudal regression in fetus with de novo SMARCA2 pathogenic variant.
Prenat Diagn
August 2024
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Article Synopsis
- Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition leading to severe intellectual disabilities and other physical symptoms, diagnosed through clinical signs and the presence of a SMARCA2 mutation.
- The case presented involves a prenatal diagnosis of caudal regression and congenital vertical talus, ultimately linked to a de novo SMARCA2 variant after the pregnancy was terminated.
- This study suggests that these specific physical traits should be recognized as part of the spectrum associated with NCBRS when linked to the SMARCA2 pathogenic variant.
Are bacteria, fungi, and archaea present in the midtrimester amniotic fluid?
J Perinat Med
September 2023
Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Objectives: This study was conducted to determine whether bacteria, fungi, or archaea are detected in the amniotic fluid of patients who underwent midtrimester amniocentesis for clinical indications.
Methods: Amniotic fluid samples from 692 pregnancies were tested by using a combination of culture and end-point polymerase chain reaction (PCR) techniques. Intra-amniotic inflammation was defined as an interleukin-6 concentration >2,935 pg/mL.
Amniocentesis-When It Is Clear That It Is Not Clear.
J Clin Med
January 2023
2nd Department of Obstetrics and Gynaecology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Unlabelled: A fetus identified to be at risk for chromosomal abnormalities may benefit from identification of genetic defects through amniocentesis. Although the risks associated with amniocentesis are considered to be minimal, being an invasive procedure it is not completely without complications.
Background And Objectives: The current study aims to identify correlations between blood contamination of samples collected during amniocentesis and certain factors dependent on the instruments used (thickness of the needle used to aspirate the fluid), the location of the placenta, and uterine vascularity (more pronounced in multiparous patients).
Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases.
Mol Diagn Ther
March 2022
Unit of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Diagnosis, and Rare Hematological Diseases, Azienda Ospedaliera, Ospedali Riuniti Villa Sofia Cervello, Via Trabucco 180, 90146, Palermo, Italy.
Background: Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains fetal cells that can be used for prenatal diagnosis of monogenic diseases in an earlier gestational period than villocentesis and amniocentesis.
View Article and Find Full Text PDFVery early prenatal diagnosis of Cockayne's syndrome by coelocentesis.
J Obstet Gynaecol
July 2022
Unit of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Diagnosis of Rare Hematological Diseases, Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy.
Cockayne's syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility of earlier prenatal diagnosis of CS by coelocentesis at 8 weeks of gestation respect to amniocentesis or villocentesis. Three couples at risk for CS asked to perform prenatal diagnosis by coelocentesis.
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