Trisomy 8 is the most common chromosomal gain in myelodysplastic syndromes (MDS), however, little is known about the features of MDS with isolated trisomy 8 and the influence of additional cytogenetic aberrations. We determined the characteristics and prognostic factors of 72 patients with trisomy 8 as a single anomaly and analysed also the impact of other aberrations added to trisomy 8 in another 62 patients. According to our study, MDS with isolated trisomy 8 was more frequent in men, with more than one cytopenia in most patients (62%) and having about 4% bone marrow blasts. The multivariate analysis demonstrated that platelet count and percentage bone marrow blasts had the strongest impact on overall survival (OS). The median OS for isolated trisomy 8, trisomy 8 plus one aberration (tr8 + 1), plus two (tr8 + 2) and plus three or more aberrations (tr8 + ≥3) was 34·3, 40, 23·4 and 5·8 months, respectively (P < 0·001). Trisomy 8 confers a poorer prognosis than a normal karyotype in MDS patients with ≥5% bone marrow blasts. This study supports the view that MDS with isolated trisomy 8 should be included in the intermediate cytogenetic risk group.
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http://dx.doi.org/10.1111/bjh.12035 | DOI Listing |
BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFJ Perinat Med
December 2024
Obstetrics Service and Fetal Medicine Unit, Department of Obstetrics, Gynecology, and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.
Objectives: This study aimed to evaluate the association of aberrant right subclavian artery (ARSA) with genetic abnormalities and postnatal symptomatology, by comparing isolated and non-isolated ARSA cases.
Methods: Retrospective, descriptive and comparative study involving fetuses diagnosed with ARSA during routine fetal ultrasound scans, between 19 and 40 weeks, in a tertiary referral university hospital in Barcelona from January 2007 to December 2023.
Results: Out of 154 fetuses diagnosed with ARSA, 75.
Prenat Diagn
December 2024
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
December 2024
Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Objectives: Practice variability exists regarding the timing of gastrostomy tube (GT) placement in patients unable to maintain adequate oral nutrition. We sought to assess patient factors predictive of longer surgical GT use to inform patient selection.
Methods: We conducted a single-center, retrospective cohort study including children ≤18 years who underwent surgical GT placement from June 1, 2018 to June 1, 2021 at a children's hospital.
Rev Assoc Med Bras (1992)
December 2024
University of Health Sciences, Turkish Ministry of Health Ankara City Hospital, Department of Obstetrics and Gynecology, Division of Perinatology - Ankara, Turkey.
Objective: The objective of this study was to evaluate the descriptive outcomes of 38 prenatally suspected clubfoot cases.
Methods: This is a retrospective cohort study conducted in Ankara Bilkent City Hospital's perinatology clinic. All consecutive cases with the diagnosis of fetal clubfoot between 2020 and 2023 were included.
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