Objectives: Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT).
Methods: Twenty fetal samples were obtained from the Dutch Fetal Biobank and divided into groups based on gestational age. Micro-CT images were processed to analyze tracheal length, volume, and cross-sectional area (CSA).
Results: Mean tracheal length and tracheal volume were similar in DS and non-DS fetuses for all gestational age groups. Mean, minimum, and maximal tracheal CSA were statistically significantly increased in the single DS fetus in the group of 21-24 weeks of gestation, but not in other gestational age groups. In 90% of all studied fetuses, the minimum tracheal CSA was located in the middle third of the trachea.
Conclusion: Tracheal development in DS fetuses was similar to non-DS fetuses between 13 and 21 weeks of gestation. This suggests that the narrowed tracheal diameter in DS children may occur later in fetal development or results from postnatal intubation trauma. The narrowest part of the trachea is in majority of DS and non-DS fetuses the middle third.
Level Of Evidence: 3 Laryngoscope, 134:4389-4395, 2024.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/lary.31468 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Micro-CT Imaging of Tracheal Development in Down Syndrome and Non-Down Syndrome Fetuses.
Laryngoscope
October 2024
Department of Obstetrics and Gynaecology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
Objectives: Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT).
View Article and Find Full Text PDFMutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome.
Blood
September 2009
Department of Nutrition and Food Science, Wayne State University, Detroit, MI, USA.
Down syndrome (DS) children have a unique genetic susceptibility to develop leukemia, in particular, acute megakaryocytic leukemia (AMkL) associated with somatic GATA1 mutations. The study of this genetic susceptibility with the use of DS as a model of leukemogenesis has broad applicability to the understanding of leukemia in children overall. On the basis of the role of GATA1 mutations in DS AMkL, we analyzed the mutational spectrum of GATA1 mutations to begin elucidating possible mechanisms by which these sequence alterations arise.
View Article and Find Full Text PDFApplication of proteomics for the identification of differentially expressed protein markers for Down syndrome in maternal plasma.
Prenat Diagn
August 2008
Medical Genetics, Athens University School of Medicine, Athens, Greece.
Background: Despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose Down syndrome (DS) is still limited and better diagnostic testing is needed.
Methods: Plasma from 8 women carrying a DS foetus and 12 with non-DS foetuses matched for gestational age, maternal age and ethnicity, in the second trimester of pregnancy, was analysed by two-dimensional gel electrophoresis (2-DE) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) in order to identify biomarkers for DS.
Results: Gel comparison revealed nine proteins differentially expressed in maternal plasma in women with DS foetuses.
[Screening and identification of human chromosome 21 genes resulting in abnormal development of fetal cerebral cortex with Down syndrome].
Zhonghua Yi Xue Za Zhi
October 2007
Centre of Laboratory, Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing 100044, China.
Objective: To screen the candidate human chromosome 21 (HC21) genes related to mental retardation (MR).
Methods: The expression of 127 known HC21 genes in the cerebral cortex specimen of a DS fetus and the specimen of a non-DS fetus induced due to maternal disease was detected with Affymetrix U133A gene chip. Semi-quantitative RT-PCR and reverse Northern blotting were used to identify the HC21 genes thus screened.
Down's syndrome: altered chondrogenesis in fetal rib.
Pediatr Res
July 1998
Department of Pediatrics, Hospitals Vall d'Hebron, Barcelona, Spain.
Down's syndrome (DS), a human genetic abnormality usually caused by an extra chromosome 21, presents a wide range of major and minor anomalies, the most significant of which are mental retardation and congenital heart defects. The anomalous phenotype also includes short stature and neck, thin calvaria, and cartilage hypoplasia. The genesis of these skeletal features is unknown.
View Article and Find Full Text PDFWant 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!