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Cureus Dec 2023The pathophysiology of Patau's syndrome involves the triplication of chromosomes, leading to multiple comorbidities. An omphalocele is characterized by a protrusion of...
The pathophysiology of Patau's syndrome involves the triplication of chromosomes, leading to multiple comorbidities. An omphalocele is characterized by a protrusion of abdominal contents from the base of the umbilical cord through the peritoneum. An omphalomesenteric duct remnant occurs when there is a failure of duct closure that results in a diverticulum extending from the fetal midgut to the yolk sac. While congenital defects rarely occur simultaneously in patients with Patau's syndrome, this case report describes a newborn with Patau syndrome who presented with both an omphalocele and an omphalomesenteric duct remnant. The newborn exhibited various congenital abnormalities such as coloboma, microphthalmia, broad nasal bridge, cleft lip, cleft palate, low-set ears, systolic murmur, omphalocele, intestinal umbilical fistula (omphalomesenteric continuous vitelointestinal duct remnant), polydactyly, rocker-bottom feet, left-sided clubbed foot, and ruptured myelomeningocele. Imaging revealed additional complications such as a large patent ductus arteriosus, hypoplastic distal arch, markedly dilated right atrium and left ventricle, and cerebellar hypoplasia. Chromosomal analysis confirmed the diagnosis of Patau's syndrome. Given the untreatable medical condition, the patient was placed under "Do Not Resuscitate," and palliative care was initiated. The simultaneous appearance of an omphalocele and an omphalomesenteric continuous vitelointestinal duct is rare, and surgical intervention is the standard of care if the patient is deemed suitable for surgery. However, in cases where surgery is not feasible, palliative care is initiated. Regardless of the outcome, genetic counseling is essential and should include a discussion on paternal autonomy, understanding the disorder, suggesting alternative management methods, and making crucial decisions concerning future family care and planning.
PubMed: 38125687
DOI: 10.7759/cureus.50793 -
Revista Paulista de Pediatria : Orgao... 2023To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a...
OBJECTIVE
To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a quaternary care hospital complex, regarding surgical and non-surgical medical procedures, palliative care, and outcomes.
METHODS
Descriptive case series conducted from January/2014 to December/2018 through analysis of records of patients with positive karyotype for T13 or T18 who stayed in the ICU of a quaternary hospital. Descriptive statistics analysis was applied.
RESULTS
33 records of eligible patients were identified: 27 with T18 (82%), and 6 T13 (18%); 64% female and 36% male. Eight were preterm infants with gestational age between 30-36 weeks (24%), and only 4 among the 33 infants had a birth weight >2500 g (12%). Four patients underwent heart surgery and one of them died. Intrahospital mortality was 83% for T13, and 59% for T18. The majority had other malformations and underwent other surgical procedures. Palliative care was offered to 54% of the patients. The median hospitalization time for T18 and T13 was 29 days (range: 2-304) and 25 days (13-58), respectively.
CONCLUSIONS
Patients with T13 and T18 have high morbidity and mortality, and long hospital and ICU stays. Multicentric studies are needed to allow the analysis of important aspects for creating protocols that, seeking therapeutic proportionality, may bring better quality of life for patients and their families.
Topics: Infant; Humans; Male; Infant, Newborn; Female; Trisomy 18 Syndrome; Chromosome Disorders; Trisomy 13 Syndrome; Palliative Care; Quality of Life; Infant, Premature; Hospitals; Trisomy; Retrospective Studies
PubMed: 38088680
DOI: 10.1590/1984-0462/2024/42/2023053 -
Prenatal Diagnosis Apr 2024This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic under debate... (Review)
Review
This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic under debate is whether noninvasive prenatal testing (NIPT) using cell-free fetal DNA should replace other screening strategies for the detection of fetal trisomies 13, 18, 21. There is no disagreement that NIPT is far more sensitive and has better positive predictive values for identifying trisomies 13, 18, and 21 than traditional screening approaches using biochemical markers and measurement of nuchal translucency. The major issue lies in the potential adverse consequences associated with abandoning traditional screening methods. The source of disagreement stems primarily from whether you consider the role of ultrasound in the context of screening to be strictly for nuchal translucency measurement or whether it should be combined with a fetal anatomy scan. The debate featured two experts who presented evidence in favor of each argument.
Topics: Pregnancy; Female; Humans; Trisomy; Noninvasive Prenatal Testing; Down Syndrome; Prenatal Diagnosis; Trisomy 13 Syndrome; Nuchal Translucency Measurement
PubMed: 38047733
DOI: 10.1002/pd.6477 -
Taiwanese Journal of Obstetrics &... Nov 2023
False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations.
Topics: Pregnancy; Female; Humans; Down Syndrome; Prenatal Diagnosis; Trisomy; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Pregnancy, Twin; Aneuploidy
PubMed: 38008520
DOI: 10.1016/j.tjog.2023.09.009 -
Clinica Chimica Acta; International... Jan 2024This review article delves into the rapidly advancing domain of prenatal diagnostics, with a primary focus on the detection and management of chromosomal abnormalities... (Review)
Review
This review article delves into the rapidly advancing domain of prenatal diagnostics, with a primary focus on the detection and management of chromosomal abnormalities such as trisomy 13 ("Patau syndrome)", "trisomy 18 (Edwards syndrome)", and "trisomy 21 (Down syndrome)". The objective of the study is to examine the utilization and effectiveness of novel computational methodologies, such as "machine learning (ML)", "deep learning (DL)", and data analysis, in enhancing the detection rates and accuracy of these prenatal conditions. The contribution of the article lies in its comprehensive examination of advancements in "Non-Invasive Prenatal Testing (NIPT)", prenatal screening, genomics, and medical imaging. It highlights the potential of these techniques for prenatal diagnosis and the contributions of ML and DL to these advancements. It highlights the application of ensemble models and transfer learning to improving model performance, especially with limited datasets. This also delves into optimal feature selection and fusion of high-dimensional features, underscoring the need for future research in these areas. The review finds that ML and DL have substantially improved the detection and management of prenatal conditions, despite limitations such as small sample sizes and issues related to model generalizability. It recognizes the promising results achieved through the use of ensemble models and transfer learning in prenatal diagnostics. The review also notes the increased importance of feature selection and high-dimensional feature fusion in the development and training of predictive models. The findings underline the crucial role of AI and machine learning techniques in early detection and improved therapeutic strategies in prenatal diagnostics, highlighting a pressing need for further research in this area.
Topics: Pregnancy; Female; Humans; Chromosome Disorders; Artificial Intelligence; Down Syndrome; Prenatal Diagnosis; Chromosome Aberrations; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Chromosomes; Trisomy
PubMed: 38007058
DOI: 10.1016/j.cca.2023.117669 -
International Journal of Molecular... Nov 2023Trisomy is the presence of one extra copy of an entire chromosome or its part in a cell nucleus. In humans, autosomal trisomies are associated with severe developmental...
Trisomy is the presence of one extra copy of an entire chromosome or its part in a cell nucleus. In humans, autosomal trisomies are associated with severe developmental abnormalities leading to embryonic lethality, miscarriage or pronounced deviations of various organs and systems at birth. Trisomies are characterized by alterations in gene expression level, not exclusively on the trisomic chromosome, but throughout the genome. Here, we applied the high-throughput chromosome conformation capture technique (Hi-C) to study chromatin 3D structure in human chorion cells carrying either additional chromosome 13 (Patau syndrome) or chromosome 16 and in cultured fibroblasts with extra chromosome 18 (Edwards syndrome). The presence of extra chromosomes results in systematic changes of contact frequencies between small and large chromosomes. Analyzing the behavior of individual chromosomes, we found that a limited number of chromosomes change their contact patterns stochastically in trisomic cells and that it could be associated with lamina-associated domains (LAD) and gene content. For trisomy 13 and 18, but not for trisomy 16, the proportion of compacted loci on a chromosome is correlated with LAD content. We also found that regions of the genome that become more compact in trisomic cells are enriched in housekeeping genes, indicating a possible decrease in chromatin accessibility and transcription level of these genes. These results provide a framework for understanding the mechanisms of pan-genome transcription dysregulation in trisomies in the context of chromatin spatial organization.
Topics: Infant, Newborn; Humans; Trisomy; Cell Nucleus; Chromatin; Genetic Testing; Trisomy 13 Syndrome
PubMed: 38003233
DOI: 10.3390/ijms242216044 -
PloS One 2023The purpose of this study was to determine direct and indirect costs of patients with trisomy (T) 13, 18, and 21 in Thailand. Direct medical costs were obtained from...
The purpose of this study was to determine direct and indirect costs of patients with trisomy (T) 13, 18, and 21 in Thailand. Direct medical costs were obtained from Siriraj Informatics and Data Innovation Center (SiData+), Faculty of Medicine, Siriraj Hospital, and indirect costs were estimated using a human capital approach. About 241 patients with T21 had outpatient care visits and 124 patients received inpatient care. For T13 and T18, five and seven patients were analyzed for outpatient and inpatient cares, respectively. For patients with T13, T18, and T21 receiving outpatient care, total annual mean direct medical costs ranged from 183.2 USD to 655.2 USD. For inpatient care, average yearly direct medical costs varied between 2,507 USD to 14,790 USD. The mean and median increased with age. In outpatient care, costs associated with drugs and medical devices were a major factor for both T13 and T21 patients, whereas laboratory costs were substantial for T18 patients. For inpatient care, costs of drug and medical devices were the greatest for T13 patients, while service fee and operation costs were the highest for T18 and T21 patients, respectively. For outpatient care, adult patients with congenital heart disease (CHD) had significantly higher mean annual direct medical costs than those without CHD. However, all adult and pediatric patients with CHD receiving inpatient care had significantly higher costs. Patients with T13, T18, and T21 had relative lifetime costs of 22,715 USD, 11,924 USD, and 1,022,830 USD, respectively.
Topics: Adult; Humans; Child; Trisomy 13 Syndrome; Chromosome Disorders; Tertiary Care Centers; Thailand; Trisomy 18 Syndrome; Heart Defects, Congenital; Trisomy; Retrospective Studies
PubMed: 37972090
DOI: 10.1371/journal.pone.0291918 -
Pediatric Pulmonology Feb 2024Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem...
BACKGROUND AND OBJECTIVES
Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem involvement and were previously thought to be incompatible with life. New data suggest that prolonged survival is possible, and thus many families are opting for more aggressive medical interventions. This study aims to describe airway findings in trisomy 18 and trisomy 13, as these have not been comprehensively studied and can impact medical decision-making. We hypothesize that most children with trisomy 18 and trisomy 13 will have abnormal findings on airway endoscopy.
METHODS
This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated.
RESULTS
Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression.
CONCLUSION
These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.
Topics: Humans; Child; Infant; Retrospective Studies; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Tracheobronchomalacia; Bronchomalacia; Bronchoscopy
PubMed: 37937891
DOI: 10.1002/ppul.26750 -
Cureus Oct 2023Trisomy 13 (T13), frequently referred to as Patau syndrome, is a rare autosomal aneuploidy most commonly due to nondisjunction in meiosis. Frequently seen...
Trisomy 13 (T13), frequently referred to as Patau syndrome, is a rare autosomal aneuploidy most commonly due to nondisjunction in meiosis. Frequently seen characteristics include cleft lip, cleft palate, cerebral defects, anophthalmia, and polydactyly among many more. We report a rare case of a newborn female with T13, demonstrating several known anomalies associated with the syndrome and an associated large congenital hepatic cyst, exhibiting a significant mass effect on vital organs. Based on a literature review conducted in August 2023, we found no previous documentation of a congenital hepatic cyst reported with T13.
PubMed: 37927679
DOI: 10.7759/cureus.46377 -
Pediatrics International : Official... 2023
Topics: Humans; Infant; Infant, Newborn; Apnea; Gabapentin; Trisomy 13 Syndrome; Gastroesophageal Reflux; Infant, Premature, Diseases
PubMed: 37888534
DOI: 10.1111/ped.15646