Introduction: Tracheostomy in children is often performed to alleviate airway obstruction (AO) or to facilitate long-term ventilator support due to respiratory failure of various etiologies, such as heart failure, and postoperative respiratory failure. Although many of these pathologies are common among trisomy 21 patients, tracheostomy rates among this population have not previously been reported. The aim of our study was to determine the incidence of trisomy 21 patients undergoing tracheostomy. Secondary objectives include decannulation rates and mortality associated with tracheostomy.
Materials And Methods: A retrospective cohort study was conducted on pediatric trisomy 21 patients undergoing tracheostomy between 2004 and 2013.
Results: Twenty patients underwent tracheostomy at a median age of 7.1 months (interquartile range [IQR] = 3.5,21.3). The estimated incidence of tracheostomy in trisomy 21 patients among our tracheostomy population was 1.7% (20/1173) over 10 years. The most common indications were airway obstruction (AO) (55%), cardiac/pulmonary respiratory failure (CRF) (25%), or both (20%). Overall mortality was 30%, much lower among AO patients (9%) than CRF (40%) or both (60%), (P = 0.029). Nine patients (45%) were successfully decannulated, with median duration of cannulation of 2.2 years (IQR = 1.7,3).
Conclusions: This study suggests a rate of tracheostomy in the pediatric trisomy 21 population approximately 3 times that of the general pediatric population. Over half in this cohort underwent tracheostomy for isolated AO, while the general pediatric tracheostomy population demonstrates a much higher prevalence of prematurity-related CRF. Overall mortality rate and decannulation rate approximated that of the general pediatric tracheostomy population, although outcomes were significantly poorer among patients trisomy 21 patients undergoing tracheostomy for CRF.
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http://dx.doi.org/10.1016/j.ijporl.2020.110540 | DOI Listing |
Interdiscip Cardiovasc Thorac Surg
January 2025
Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan.
Objectives: This retrospective study aimed to investigate the feasibility of surgical closure of ventricular septal defect in children with trisomy 18 by assessing perioperative events and long-term survival.
Methods: From April 2008 to March 2024, 41 consecutive patients were referred to us for ventricular septal defect surgery. The defect was closed in 35 patients at the end (median age, 16 months; median body weight, 5.
Med Sci (Basel)
December 2024
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value.
View Article and Find Full Text PDFJ Gynecol Obstet Hum Reprod
January 2025
Laboratoire de Dépistage Périnatal, Centre de Biologie Pathologie et Génétique, Centre Hospitalier Universitaire, Lille, France. Electronic address:
Background: In France, legislation concerning pregnancy monitoring only considers screening for Down syndrome (T21), while the contingent introduction of the circulating cell free DNA test (DPNI) also allows screening for trisomies 13 and 18 with similar performances.
Methods: We retrospectively studied more than 800,000 patients among whom 7971 presented serum markers suggestive of T18 (but without increased risk of T21), of which 438 benefited from NIPT and of a complete pregnancy follow-up.
Results: We show that the use of a specific risk calculation for T18 would have improve the relevance of the prescription.
Int J Gynaecol Obstet
January 2025
Scientific Centre of Obstetrics, Gynecology and Perinatology, Almaty, Republic of Kazakhstan.
Objective: Despite numerous studies on the causes of recurrent pregnancy loss (RPL), nearly half of cases remain unidentified, which determines the research relevance. This study aims to investigate microchromosomal variations in the fetal genome associated with the development of idiopathic RPL.
Methods: The research was supported by the Centre for Molecular Medicine and the Research Institute of Obstetrics, Gynecology and Perinatology and conducted over a period of 2 years.
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
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