RESUMEN
PURPOSE: Recently, children with trisomy 18 have been receiving more active treatment for malignancies. We report herein seven cases complete resection was achieved, and discuss multidisciplinary treatment for hepatoblastoma in patients with trisomy 18. METHOD: The medical records of children with trisomy 18 who were treated at the study center between 2010 and 2023 were reviewed. RESULT: Six of 69 patients had hepatoblastoma development, and three of these underwent multidisciplinary treatment. In addition, 6 patients had been referred by another hospital for treatment, and four of these underwent multidisciplinary treatment. Among the seven patients who underwent multidisciplinary treatment, three, two, and two were categorized in Pre-treatment Extent of Disease (PRETEXT) classification group I, II, and III, respectively. Neoadjuvant chemotherapy resulting in tumor reduction was performed in three cases. In all the cases, complete resection was achieved with pathologically safe margins. Perioperative complications included circulatory failure in one case and bile leakage in two cases. Adjuvant chemotherapy was administered in four cases. The postoperative observation period ranged from 3 months to 11 years, and all the patients are recurrence-free. CONCLUSION: Children with trisomy 18 complicated with hepatoblastoma whose cardiopulmonary conditions are stable may be good candidates for chemotherapy and surgery.
Asunto(s)
Hepatoblastoma , Neoplasias Hepáticas , Síndrome de la Trisomía 18 , Humanos , Hepatoblastoma/genética , Hepatoblastoma/cirugía , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/cirugía , Masculino , Neoplasias Hepáticas/cirugía , Neoplasias Hepáticas/genética , Femenino , Lactante , Preescolar , Estudios Retrospectivos , Hepatectomía/métodos , Niño , Resultado del Tratamiento , Trisomía/genéticaRESUMEN
The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have life-threatening cardiac or other severe defects. Due to the prematurity of our patient and the defects associated with Edwards syndrome, the child required constant multidisciplinary care, but Edwards syndrome itself was not a reason to discontinue therapy for a malignant neoplasm of the liver. Regular abdominal ultrasound examination, along with AFP testing, may be helpful in the early detection of liver tumors in children with Edwards syndrome.
Asunto(s)
Hepatoblastoma , Neoplasias Hepáticas , Síndrome de la Trisomía 18 , Humanos , Hepatoblastoma/genética , Hepatoblastoma/terapia , Femenino , Lactante , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/patología , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/complicaciones , Mosaicismo , Trisomía/genética , Resultado del Tratamiento , Cromosomas Humanos Par 18/genéticaRESUMEN
Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmonary, genitourinary, and musculoskeletal findings, leading to a shorter survival and severe developmental delay in survivors. However, recently, intensive therapeutic intervention has allowed for prolonging survival. In terms of otological complications, only a limited number of relevant reports have been published. To demonstrate the characteristic of hearing loss (HL) in children with Trisomy 18, we retrospectively evaluated 22 patients (44 ears) by comprehensive auditory evaluation with the auditory steady-state response (ASSR) test and temporal bone computed tomography (CT). ASSR revealed that 20 patients (91%) had bilateral moderate to profound HL, more frequent and severe than that in Trisomy 21; among 42 ears having HL, 12 ears (29%) had conductive HL, and 26 ears (62%) had mixed HL. CT scans of 38 ears revealed that 34 ears (89%) had an external and middle ear malformation. Hearing aids (HA) were fitted in 17 patients (air and bone-conduction HAs). The threshold hearing with HA was improved in all of them. Accurate otological evaluation using ASSR and CT and intervention by HAs could be a feasible choice for children with Trisomy 18.
Asunto(s)
Sordera , Pérdida Auditiva , Niño , Humanos , Estudios Retrospectivos , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genética , Pérdida Auditiva/complicaciones , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/genética , Audición/fisiología , Umbral Auditivo/fisiologíaRESUMEN
Trisomy 18 is associated with several congenital malformations, including horseshoe kidney. It can be full, partial, or mosaic, and mosaicism is often associated with lesser severity and longer life expectancy, placing patients at greater risk of developing neoplasms or malignancies. One common tumor among children with Trisomy 18 is Wilms tumor, which is also associated with renal congenital abnormalities such as horseshoe kidney. We present a case describing the occurrence of these three characteristics: development of Wilms tumor in a patient with Trisomy 18 and a horseshoe kidney and discuss treatment with regards to these conditions.
Asunto(s)
Riñón Fusionado , Neoplasias Renales , Tumor de Wilms , Humanos , Niño , Neoplasias Renales/genética , Neoplasias Renales/patología , Riñón Fusionado/complicaciones , Riñón Fusionado/genética , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/genética , Tumor de Wilms/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/patología , Riñón/anomalías , Riñón/patología , Trisomía/genéticaRESUMEN
PURPOSE OF REVIEW: To review the incidence of congenital heart disease in the trisomies, highlight the history of cardiac surgery in trisomy 21 comparing it to the increase in cardiac surgery in trisomies 13 and 18, discuss ethical issues specific to trisomies 13 and 18, and suggest a pathway of shared decision-making in the management of congenital heart disease in trisomy 13 and 18, specifically congenital heart surgery. RECENT FINDINGS: Congenital heart disease is prevalent in the trisomies and the management of these defects, especially surgical intervention, has changed. In the late 20th century, survival after cardiac surgery in trisomy 21 vastly improved, significantly decreasing morbidity and mortality secondary to pulmonary hypertension. Similarly, procedures and surgeries have been performed with increasing frequency in trisomy 13 and 18 patients and concomitantly, survival in this patient population is increasing. Yet across the United States, the willingness to perform cardiac surgery in trisomy 13 and 18 is variable, and there is ethical controversy about the correct action to take. To address this concern, a shared decision-making approach with an informed parent(s) is advised. SUMMARY: As the care and management of congenital heart disease changed in trisomy 21, so too it has with trisomy 13 and 18. Physicians and parents should develop goal-directed treatment plans balancing the risk versus benefit and consider cardiac surgical repair if feasible and beneficial.
Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Síndrome de Down , Cardiopatías Congénitas , Humanos , Estados Unidos , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/terapia , Síndrome de la Trisomía 13/complicaciones , Trisomía/genética , Síndrome de Down/complicaciones , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Procedimientos Quirúrgicos Cardíacos/métodos , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/terapia , Síndrome de la Trisomía 18/complicacionesRESUMEN
Patients with Trisomy 18 have a high incidence of cardiac anomalies and are associated with early death. Because of early mortality, electrical system disease and arrhythmia has been difficult to delineate and the incidence remain unknown. We sought to describe the association and clinical outcomes of electrical system disease and cardiac tachy-arrhythmias in patients with Trisomy 18. This was a retrospective, single institutional study. All patients with Trisomy 18 were included in the study. Patient characteristics, congenital heart disease (CHD), conduction system and clinical tachy-arrhythmia data were collected on all patients. Outcomes including cardiac surgical interventions, electrical system interventions and death were collected until the time of study. Patients with tachy-arrhythmias/electrical system involvement were compared to those without to identify potential associated variables. A total of 54 patients with Trisomy 18 were included in analysis. The majority of patients was female and had associated CHD. AV nodal conduction system abnormalities with either first or second degree AV block were common (15%) as was QTc prolongation (37%). Tachy-arrhythmias were common with 22% of patients having at least one form of tachy-arrhythmia and associated with concomitant conduction system disease (p = 0.002). Tachy-arrhythmias were typically treatable with monitoring or medication with eventual resolution without need for procedural intervention. Although early death was common, there were no causes of death associated with tachy-arrhythmia or conduction system disease. In conclusion, patients with Trisomy 18 have a high incidence of conduction system abnormalities and burden of clinical tachy-arrhythmias. Although frequent, electrical system disease did not affect patient outcome or difficultly of care delivery.
Asunto(s)
Arritmias Cardíacas , Cardiopatías Congénitas , Humanos , Femenino , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/epidemiología , Estudios Retrospectivos , Incidencia , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/genética , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genéticaRESUMEN
We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy.
Asunto(s)
COVID-19 , Masculino , Femenino , Embarazo , Humanos , Síndrome de la Trisomía 18/complicaciones , COVID-19/complicaciones , Croacia , SARS-CoV-2 , AneuploidiaRESUMEN
OBJECTIVE: The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for these patients at our institution. METHODS: We performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021. RESULTS: Of the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three-quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate. CONCLUSIONS: Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:1501-1506, 2023.
Asunto(s)
Labio Leporino , Fisura del Paladar , Otolaringología , Apnea Obstructiva del Sueño , Tonsilectomía , Niño , Humanos , Síndrome de la Trisomía 13/complicaciones , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/cirugía , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/cirugía , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Tonsilectomía/métodos , Adenoidectomía/métodos , Apnea Obstructiva del Sueño/cirugía , Estudios RetrospectivosRESUMEN
BACKGROUND: Trisomy 18 syndrome (T18) is the second most common autosomal trisomy and has a high risk of fetal loss and stillbirth. Aggressive surgical treatments for the respiratory, cardiac, or digestive systems of patients with T18 were previously futile, while the results of recent studies are controversial. Over the past decade, there have been approximately 300,000 to 400,000 births annually in the Republic of Korea; however, there have been no nationwide studies on T18. This nationwide retrospective cohort study aimed to determine the prevalence of T18 in Korea and its prognosis according to the presence of congenital heart disease and relevant interventions. METHODS: This study utilized NHIS-registered data between 2008 and 2017. A child was defined as having T18 if the ICD-10 revision code Q91.0-3 was reported. Subgroup analysis was performed for children with congenital heart diseases, and survival rates were compared based on the history of cardiac surgical or catheter interventions. The primary outcomes in this study were the survival rate during the first hospitalization period and the 1-year survival rate. RESULTS: Of the children born between 2008 and 2017, 193 were diagnosed with T18. Of these, 86 died, with a median survival of 127 days. The 1-year survival rate for children with T18 was 63.2%. The survival rate in the first admission of children with T18 who did and did not have congenital heart disease was 58.3% and 94.1%, respectively. Children with heart disease who underwent surgical or catheter intervention had a longer survival time than those who did not. CONCLUSIONS: We suggest these data could be used in ante- and postnatal counseling. Ethical concerns about the prolonged survival of children with T18 remain; however, the potential benefits of interventions for congenital heart disease in this population need further study.
Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Cardiopatías Congénitas , Humanos , Niño , Síndrome de la Trisomía 18/complicaciones , Estudios Retrospectivos , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , TrisomíaRESUMEN
BACKGROUND: Omphalocele is associated with many aneuploidies, deletions and congenital anomalies. This study evaluates pregnancies diagnosed with omphalocele and its relevance to concomitant genetic disorders. METHODS: The data of patients with the intrauterine diagnosis of omphalocele who had invasive diagnostic testing performed between January 2017 and January 2020 were evaluated retrospectively. The traditional karyotype analysis was performed to prenatal diagnosis for all fetuses. During the study period, all patients were scanned via ultrasonography by an experienced perinatologist, prenatally. RESULTS: We evaluated 22 cases of omphalocele whose genetic testing results were available. The mean maternal age was 25 (18-41) years. The median gestational week at diagnosis was 13 (11-22). Invasive genetic testing revealed aneuploidy in 7 patients (31.8%), 2 with trisomy 13 (9.1%), and 5 with trisomy 18 (22.8%). There were 5 fetuses (22.7%) that had extracorporeal liver: 1 had trisomy 18 (20%), 1 had trisomy 13 (20%), and the other 3 fetuses had a normal karyotype (60%). Further, 14 (63.6%) pregnancies were terminated: 4 had trisomy 18 (28.6%), 1 had trisomy 13 (7.1%), and 9 of the terminated pregnancies (64.3%) had additional congenital anomalies. There were 4 infants who died (50%) born from 8 patients who decided to continue with their pregnancy. The omphalocele sac of 1 infant spontaneously regressed in the ensuing weeks of pregnancy who is now 1 year old. CONCLUSIONS: The chromosomal abnormalities presented in up to 31.8% of cases diagnosed with omphalocele. Moreover, for cases with normal genetic testing results, the propensity for additional structural defects was high and the prognosis remains poor. Counseling parents to consider their option of terminating the pregnancy is appropriate.
Asunto(s)
Hernia Umbilical , Resultado del Embarazo , Embarazo , Femenino , Humanos , Adulto , Lactante , Hernia Umbilical/diagnóstico por imagen , Hernia Umbilical/genética , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/complicaciones , Estudios Retrospectivos , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 13/complicaciones , Ultrasonografía Prenatal/métodos , Aneuploidia , Cariotipo , FetoRESUMEN
BACKGROUND: The frequency, mortality, and morbidity of very low birth weight (VLBW) infants with congenital heart disease (CHD) in Asian countries are limited. In addition, little is known about the risk factors of death in these infants. METHODS: A retrospective, multicenter cohort study was conducted. VLBW infants with CHD born between 2006 and 2010, and followed to 5â¯years of age, were included in the analysis. Multiple logistic regression analysis was performed to identify the risk factors of death. RESULTS: Among 3247 VLBW infants, 126 various CHDs (3.9â¯%) were identified. The most common lesions were ventricular septal defect, tetralogy of Fallot (TOF), and coarctation of the aorta/interrupted aortic arch, in that order. The proportions of left-sided and right-sided outflow obstruction (TOF, pulmonary stenosis) were 15.1â¯% and 15.9â¯%, respectively. Trisomy 18 and trisomy 13 were present in 32 (25.4â¯%) of 126 VLBW infants with CHD. Nine patients were lost to follow-up. Overall, 45 patients (35.7â¯%) died up to 5â¯years of age. Serious CHD [odds ratio (OR), 19.2; 95â¯% confidential interval (CI), 3.94-93.11; pâ¯<â¯0.0001], sepsis (OR, 42.3; 95â¯% CI, 5.39-332.22; pâ¯<â¯0.0001), chromosomal /named anomalies (OR, 7.50; 95%CI, 2.09-26.94; pâ¯=â¯0.001), and no-invasive treatments (OR, 9.89; 95%CI, 2.28-42.91; pâ¯=â¯0.001) were associated with death. On excluding chromosomal anomalies, twelve of 71 patients (16.9â¯%) died, and only sepsis (OR, 35.5, 95%CI, 2.63-477.1; pâ¯=â¯0.0008) was an independent risk factor. CONCLUSIONS: Trisomy 18 and trisomy 13 of chromosomal anomalies are frequently associated with VLBW infants with CHD. The mortality of VLBW infants with CHD is high, even when chromosomal anomalies are excluded. Sepsis has a significant impact on death in VLBW infants with CHD.
Asunto(s)
Cardiopatías Congénitas , Sepsis , Tetralogía de Fallot , Estudios de Cohortes , Cardiopatías Congénitas/complicaciones , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Japón/epidemiología , Estudios Retrospectivos , Síndrome de la Trisomía 13/complicaciones , Síndrome de la Trisomía 18/complicacionesRESUMEN
BACKGROUND: Trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21) are the most common autosomal trisomies. One unifying feature of all trisomies is their association with major congenital malformations, which often require life-prolonging surgical procedures. Few studies, mostly among cardiac surgery patients, have examined the outcome of those who undergo surgical procedures. We examined the differences in postsurgical outcomes between the trisomy groups. METHOD: Using the National Surgical Quality Improvement Program dataset, we identified children (<18 years of age) with T13, T18, or T21 who underwent noncardiac surgery (2012-2018). We estimated the incidence of mortality and indicator of resource utilization (unplanned reoperation, unplanned tracheal reintubation, and extended length of hospital stay). RESULTS: Of the 349 158 inpatient surgical cases during the study period, we identified 4202 children with one of the autosomal trisomies of interest (T13: 152; T18: 335; and T21: 3715). The rates of postoperative mortality were substantially higher for T18 and T13 than T21 and nontrisomy children (T18 vs. T21: 11.1% vs. 1.6%, adjusted odds ratio: 5.01, 95%CI: 2.89,8.70, p < .01), (T13 vs. T21: 8.1% vs. 1.6%, adjusted odds ratio: 2.86, 95%CI: 1.25,6.54, p = .01). Children with T18 had the highest rates of extended length of stay (62.7%) and prolonged mechanical ventilation (32.5%). T18 and T13 neonates had the highest surgical mortality burden (T13: 26.5%, T18: 31.8%, and T21: 2.8%). CONCLUSION: Approximately, one-third of T18 and T13 neonates, who had surgery, died, underscoring the lethality of these trisomies and the need for a comprehensive preoperative ethical discussion with families of these children.
Asunto(s)
Trastornos de los Cromosomas , Síndrome de Down , Niño , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/epidemiología , Humanos , Incidencia , Recién Nacido , Estudios Retrospectivos , Trisomía/genética , Síndrome de la Trisomía 13/complicaciones , Síndrome de la Trisomía 18/complicacionesRESUMEN
Individuals with trisomy 18 (T18) usually have congenital heart disease, often with pulmonary hypertension, which is associated with poor outcomes. This study aimed to explore the characteristics of pulmonary circulation including pulmonary vascular resistance (Rp) and compliance (Cp) among them. We retrospectively reviewed cardiac catheterization data in subjects with T18, trisomy 21 (T21), and without chromosomal anomaly (control group) who were referred due to heart failure associated with ventricular septal defect between 2000 and 2020. Pulmonary hemodynamic parameters including Rp and Cp were compared between these groups. We studied 20 subjects with T18, 88 subjects with T21, and 240 control subjects. There was no significant difference in age (T18: 4.6 [3.0-6. 9] vs. T21: 2.8 [1.9-4.0] vs. control: 2.9 [1.6-3.2] months, p = 0.06) and mean pulmonary arterial pressure (T18: 41 [33-49] vs. T21: 35 [30-41] vs. control: 36 [28-43] mmHg, p = 0.121) between the groups. The pulmonary to systemic blood flow ratio (Qp/Qs) (p = 0.983), Rp (p = 0.449), and Cp (p = 0.195) did not differ between T18 and control groups. However, Qp/Qs and Cp in T18 group were significantly greater than that in T21 group (T18: Qp/Qs: 3.4 [2.3-5.2] vs. T: 21 2.3 [1.7-3.7], p = 0.001. Cp: 3.5 [2.3-5.5] vs. 2.3 [1.6-3.1] mmHg/mL/m2 , p = 0.007), while Rp was identical between the groups (T18: 2.0 [1.6-3.3] vs. T21: 2.3 [1.7-3.7], p = 0.386). The pulmonary circulation in T18 subjects differed from that observed in T21 subjects, and identical to that observed in control subjects. Pulmonary hypertension is expected to be normalized after reasonable corrective surgery in T18 patients with congenital heart disease.
Asunto(s)
Defectos del Tabique Interventricular , Hipertensión Pulmonar , Humanos , Hipertensión Pulmonar/complicaciones , Estudios Retrospectivos , Trisomía , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/genética , Resistencia VascularRESUMEN
OBJECTIVE: To evaluate the trends in hospitalizations for children with trisomy 18 over time and to determine the rate of invasive procedures on these children, using a large inpatient database. STUDY DESIGN: A retrospective analysis using the Kids' Inpatient Database from 1997 to 2016 was performed for trisomy 18. We evaluated survival to discharge as well as the presence of pulmonary, skeletal, neurologic, gastrointestinal, renal, and hematologic/bleeding problems. We also searched for the following interventions, if performed: gastrostomy tube placement, tracheostomy, or cardiac procedure. RESULTS: Over this period 10 151 admissions occurred in children with a diagnosis of trisomy 18. Between 1997 and 2016, the number of children admitted annually with trisomy 18 increased 74% from 1036 to 1798. The proportion of patients born prematurely remained stable at 14%-16% throughout the study. Gastrostomy tube placement increased 12-fold during the study period, tracheostomy increased 11-fold, and cardiac intervention increased 5-fold. The overall mortality rate decreased in those with trisomy 18 from 32% in 1997 to 21% in 2016. CONCLUSIONS: We highlight a decreased inpatient mortality rate during the study period. The number of children undergoing interventions such as gastrostomy tube and tracheostomy increased, as did the number of children undergoing cardiac intervention. Although the number of procedures has increased with the mortality rate decreasing, it is unclear at present whether the 2 are related.
Asunto(s)
Procedimientos Quirúrgicos Cardíacos/tendencias , Gastrostomía/tendencias , Hospitalización/tendencias , Pautas de la Práctica en Medicina/tendencias , Traqueostomía/tendencias , Síndrome de la Trisomía 18/cirugía , Adolescente , Niño , Preescolar , Bases de Datos Factuales , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/mortalidad , Estados UnidosRESUMEN
The pathogenesis of omphalocele and gastroschisis is not obvious. Their etiology is disputed. The prevalence and the types of anomalies co-occurring with omphalocele and gastroschisis are variable in the different series published. The aim of this study was to estimate the frequency and the types of co-occurring anomalies in cases with gastroschisis and omphalocele. This study was performed in a well-described population of 387,067 consecutive births between 1979 and 2007. Hundred-one cases with omphalocele were registered (2.61 per 10,000), 75 (74.3%) had co-occurring anomalies comprising chromosomal anomalies (28 cases, 27.7%, including 18 trisomy 18), non-chromosomal syndromes (16 cases, 15.8%, including 3 cases with Beckwith-Wiedemann syndrome, 2 cases with the OEIS sequence, and one case with the Pentalogy of Cantrell complex), and 31 cases, 30.7% with MCA (multiple congenital anomalies). The most common MCA were musculoskeletal (23.5%), urogenital (20.4%), cardiovascular (15.1%), and central nervous (9.1%). Seventy-one cases of gastroschisis were ascertained (1.83 per 10,000). However, the prevalence increased during the study period. The frequency was highest in the mothers 15-19 years old. Sixteen out of the 71 cases with gastroschisis, (22.5%) had co-occurring anomalies including 11 cases of MCA and 5 cases with syndromes. To conclude, the frequency and the types of anomalies co-occurring with omphalocele and gastroschisis are peculiar. Therefore, cases with gastroschisis and omphalocele need to be screened for co-occurring anomalies.
Asunto(s)
Síndrome de Beckwith-Wiedemann/diagnóstico , Gastrosquisis/diagnóstico , Hernia Umbilical/diagnóstico , Síndrome de la Trisomía 18/genética , Pared Abdominal/patología , Adolescente , Adulto , Síndrome de Beckwith-Wiedemann/complicaciones , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patología , Aberraciones Cromosómicas , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Femenino , Gastrosquisis/complicaciones , Gastrosquisis/genética , Gastrosquisis/patología , Hernia Umbilical/complicaciones , Hernia Umbilical/genética , Hernia Umbilical/patología , Humanos , Recién Nacido , Edad Materna , Madres , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/patología , Adulto JovenRESUMEN
In this case, we explore physician conflict with performing surgery (tracheostomy) for long-term ventilation in a term infant with trisomy 18 and respiratory failure. Experts in neonatal-perinatal medicine, pediatric bioethics, and pediatric palliative care have provided comments on this case. An additional commentary was written by the parent of another infant with trisomy 18, who is also a medical provider (physical therapist).
Asunto(s)
Disentimientos y Disputas , Cuidados Paliativos/ética , Padres/psicología , Grupo de Atención al Paciente/ética , Insuficiencia Respiratoria/cirugía , Traqueostomía/ética , Síndrome de la Trisomía 18/cirugía , Resultado Fatal , Femenino , Humanos , Lactante , Recién Nacido , Inutilidad Médica/ética , Inutilidad Médica/psicología , Cuidados Paliativos/psicología , Derechos del Paciente/ética , Relaciones Profesional-Familia/ética , Calidad de Vida , Insuficiencia Respiratoria/etiología , Traqueostomía/efectos adversos , Síndrome de la Trisomía 18/complicacionesAsunto(s)
Anomalías Craneofaciales/diagnóstico por imagen , Holoprosencefalia/diagnóstico por imagen , Aborto Inducido , Anomalías Craneofaciales/complicaciones , Femenino , Proteínas Hedgehog/genética , Holoprosencefalia/complicaciones , Holoprosencefalia/genética , Holoprosencefalia/terapia , Humanos , Análisis por Micromatrices , Embarazo , Pronóstico , Triploidía , Síndrome de la Trisomía 13/complicaciones , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/genética , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, covered with a membranous or glistening surface, and appears as a flat scar. There are less than 20 cases reported in the literature. It has been proposed an abortive form of a defective closure of the neural tube. On the other hand, the trisomy 18 is a chromosomal abnormality characterized by a broad clinical spectrum and the presence of defective closure of the neural tube. CASE PRESENTATION: We report on an 18-months-old Venezuelan boy, who presented on the parietal scalp a distinctive localized MACC appearing as an oval lesion covered with a membranous surface, characterized by the absence of hairs and the presence of a sharp hair collar. The karyotype in peripheral blood was 47,XY,+ 18. CONCLUSIONS: This is the second case report of ACC in trisomy 18 and reinforces the interpretation of a non-fortuitous association as well as of a defective closure of the neural tube as pathogenetic mechanism. The case highlights the importance of examining for dermatological alterations such as ACC in cases of chromosomopathy.