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American Journal of Medical Genetics.... Oct 2022
Topics: Diagnostic Errors; Humans; Karyotyping; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35924647
DOI: 10.1002/ajmg.a.62937 -
Ethiopian Journal of Health Sciences May 2022Bacterial Sepsis is a serious medical problem affecting children with Congenital Heart Disease (CHD). The pattern and factors predicting outcome of bacterial sepsis have...
BACKGROUND
Bacterial Sepsis is a serious medical problem affecting children with Congenital Heart Disease (CHD). The pattern and factors predicting outcome of bacterial sepsis have not been studied in Africa. The study aimed to describe the pattern and outcome of bacterial sepsis among children with CHD in Tikur Anbessa Specialized Hospital (TASH).
METHODS
A cross-sectional study was carried out among children with CHD and sepsis at TASH between May 2017 and July 2020. Structured questionnaires were used for data collection. Statistical significance was set at P value < 0.05, and multivariable logistic regression was used to determine predictors.
RESULTS
This study included 384 CHD children with sepsis. Proportion of culture proven bacterial sepsis was 17.1 % (66) (95% CI: 13.6-21.3). Coagulase negative staphylococcus aureus 7% (27), Staphylococcus aureus 4.4% (17) and Actinobacteria 1.8% (7) were the common isolated bacteriological agents. Death was documented in 25% (96) of study subjects. Down syndrome subjects were 2.4 times [aOR=2.416 (95%CI: 1.367-4.264)] more likely to die from sepsis. Those with associated comorbidities (Apert syndrome, Cerebral palsy, Chiari 2 malformation, Patau syndrome, Noonan syndrome, Congenital Rubella, Portal vein thrombosis, HIV, Scoliosis and VACTERL association) were 4.4 times more likely to die from sepsis [aOR=4.418 (95%CI: 1.617-12.072)].
CONCLUSION
Bacterial sepsis is a common problem among children with CHD. Gram positive bacteria were common causes. Down syndrome and other co morbidities predicted bacterial sepsis mortality. Blood culture and sensitivity tests are recommended to halt the high mortality seen in Down syndrome or those with co morbidities.
Topics: Child; Cross-Sectional Studies; Down Syndrome; Ethiopia; Heart Defects, Congenital; Hospitals; Humans; Sepsis
PubMed: 35813671
DOI: 10.4314/ejhs.v32i3.7 -
The Tohoku Journal of Experimental... Aug 2022Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. A few case reports have described hMPV encephalitis or... (Review)
Review
Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. A few case reports have described hMPV encephalitis or encephalopathy. Neuroimaging data on patients with hMPV encephalitis are scarce. We report a patient with trisomy 13 who developed severe hMPV pneumonia, multifocal cerebral and cerebellar hemorrhagic infarctions and extensive cerebral white matter demyelination. Although adult respiratory distress syndrome and disseminated intravascular coagulation contributed to the devastating central nervous system (CNS) lesions, endothelial dysfunction of the CNS caused by hMPV infection probably also played a pathophysiological role in this case.
Topics: Adult; Cerebral Hemorrhage; Child; Encephalitis; Humans; Infant; Metapneumovirus; Paramyxoviridae Infections; Pneumonia, Viral; Respiratory Tract Infections; Trisomy 13 Syndrome; White Matter
PubMed: 35793947
DOI: 10.1620/tjem.2022.J056 -
Journal of Cardiology Oct 2022The frequency, mortality, and morbidity of very low birth weight (VLBW) infants with congenital heart disease (CHD) in Asian countries are limited. In addition, little...
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 5 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 (3.9 %) 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 15.1 % and 15.9 %, respectively. Trisomy 18 and trisomy 13 were present in 32 (25.4 %) of 126 VLBW infants with CHD. Nine patients were lost to follow-up. Overall, 45 patients (35.7 %) died up to 5 years of age. Serious CHD [odds ratio (OR), 19.2; 95 % confidential interval (CI), 3.94-93.11; p < 0.0001], sepsis (OR, 42.3; 95 % CI, 5.39-332.22; p < 0.0001), chromosomal /named anomalies (OR, 7.50; 95%CI, 2.09-26.94; p = 0.001), and no-invasive treatments (OR, 9.89; 95%CI, 2.28-42.91; p = 0.001) were associated with death. On excluding chromosomal anomalies, twelve of 71 patients (16.9 %) died, and only sepsis (OR, 35.5, 95%CI, 2.63-477.1; p = 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.
Topics: Cohort Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Infant, Very Low Birth Weight; Japan; Retrospective Studies; Sepsis; Tetralogy of Fallot; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35725946
DOI: 10.1016/j.jjcc.2022.05.008 -
Journal of Nippon Medical School =... Nov 2022Noninvasive prenatal testing (NIPT) is used to screen for fetal chromosomal abnormalities, such as fetal aneuploidy, and has been offered at our hospital since 2013. We... (Observational Study)
Observational Study
BACKGROUND
Noninvasive prenatal testing (NIPT) is used to screen for fetal chromosomal abnormalities, such as fetal aneuploidy, and has been offered at our hospital since 2013. We analyzed data from our center to determine if NIPT screenees could be given more-accurate information on NIPT outcomes.
METHODS
This retrospective observational study included 819 pregnant women who requested NIPT at Nippon Medical School Hospital from November 2013 to October 2021. We examined medical records for data on NIPT results and clinical outcomes.
RESULTS
Of the 819 women, 764 (93.2%) underwent NIPT, and 55 (6.7%) did not. Of the 764 women who underwent NIPT, 17 received a positive result (2.2%), of whom 2 (11.8%), 4 (23.5%), and 11 (64.7%) received a positive result for trisomy 13, 18, and 21, respectively. The true-positive rates after definitive diagnoses of trisomy 13, 18, and 21 were 1 (50%), 3 (75%), and 11 (100%), respectively. Of the 17 positive results, there were two false-positive results (11.8%) (for trisomy 13 and trisomy 18). Eleven women with fetal aneuploidy terminated their pregnancies, and four cases resulted in intrauterine fetal death. Five neonates with negative NIPT results had congenital disease without chromosomal abnormality. Two patients had indeterminate results from the first blood sampling, possibly because of treatment with unfractionated heparin. The results of repeat testing after heparin cessation were negative.
CONCLUSIONS
Our results were generally similar to nationwide data for Japan. NIPT providers can provide more detailed and individualized genetic counseling for each situation by understanding their own medical facility's data in detail.
Topics: Infant, Newborn; Female; Humans; Pregnancy; Noninvasive Prenatal Testing; Trisomy 13 Syndrome; Prenatal Diagnosis; Schools, Medical; Heparin; Aneuploidy; Hospitals; Genetic Testing
PubMed: 35644554
DOI: 10.1272/jnms.JNMS.2022_89-512 -
Oxford Medical Case Reports May 2022Patau syndrome is the third most frequent chromosomal trisomy, with an estimated mortality rate that is about 50 times higher than the general neonatal mortality rate....
Patau syndrome is the third most frequent chromosomal trisomy, with an estimated mortality rate that is about 50 times higher than the general neonatal mortality rate. Trisomy 13 mosaicism is a subtype that may result in a milder form of the disease, potentially leading to a longer life expectancy in these patients, allowing them to reach puberty. In this report, we discuss the case of a young boy who was evaluated for delayed puberty and karyotyping revealed mosaicism for trisomy 13. A detailed history, physical examination and appropriate laboratory studies and imaging were performed that showed a picture of suggestive of hypogonadotropic hypogonadism and an abnormal male karyotype with mosaicism for trisomy 13. To date, there is no clear explanation to the association between trisomy 13 and gonadal axis, specifically with normal imaging of pituitary. We postulate that delayed puberty could be a clinical feature of mosaic trisomy 13.
PubMed: 35619681
DOI: 10.1093/omcr/omac046 -
Genetics in Medicine : Official Journal... Jul 2022Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in... (Review)
Review
PURPOSE
Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population.
METHODS
Medline (PubMed) and Embase were used to identify studies examining detection of Down syndrome (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, rare autosomal trisomies, copy number variants, and maternal conditions, as well as studies assessing the psychological impact of NIPS and the rate of subsequent diagnostic testing. Random-effects meta-analyses were used to calculate pooled estimates of NIPS performance (P < .05). Heterogeneity was investigated through subgroup analyses. Risk of bias was assessed.
RESULTS
A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (≥99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare.
CONCLUSION
NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.
Topics: Cell-Free Nucleic Acids; Down Syndrome; Female; Humans; Noninvasive Prenatal Testing; Pregnancy; Prenatal Diagnosis; Sex Chromosome Aberrations; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35608568
DOI: 10.1016/j.gim.2022.03.019 -
Prenatal Diagnosis Jul 2022What's already known about this topic? Discordant NIPT results can rarely unravel maternal malignancies, especially when multiple chromosomal imbalances are reported....
What's already known about this topic? Discordant NIPT results can rarely unravel maternal malignancies, especially when multiple chromosomal imbalances are reported. Both solid and hematological neoplasms have been described. What does this study add? This is the first case of a discordant NIPT result due to Chronic Lymphocytic Leukemia associated with trisomy of the chromosome 12. Putative maternal malignancy should be considered and investigated through sensitive techniques even in presence of a single chromosomal anomaly. This must be considered especially when the imbalance is known to recur in hematological neoplasms.
Topics: Adult; Cell-Free Nucleic Acids; Female; Humans; Leukemia, Lymphocytic, Chronic, B-Cell; Pregnancy; Pregnant Women; Prenatal Diagnosis; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35506546
DOI: 10.1002/pd.6158 -
The Journal of Pediatrics Aug 2022To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy...
OBJECTIVES
To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy 18 (T18).
STUDY DESIGN
This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the greater Cincinnati area from January 1, 2012, to December 31, 2018. Overall survival, survival to hospital discharge, medical management, and maternal, fetal, and neonatal characteristics are analyzed.
RESULTS
There were 124 pregnancies (125 fetuses) that were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 and 29 days, for infants with T13 and T18, respectively. Of the 27 infants alive at 1 month of age, 13 (48%) were alive at 1 year of age. Only trisomy type (T13), goals of care (comfort care), and extremely low birthweight were associated with a shorter length of survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least 1 surgical procedure and some children requiring repeated (≤29) or prolonged (>1 year) hospitalizations.
CONCLUSIONS
Although many infants with T13 or T18 did not survive past the first week of life, nearly 20% lived for more than 1 year with varying degrees of medical support. The length of survival for an infant cannot be easily predicted, and surviving infants have high health care use throughout their lifespans.
Topics: Adolescent; Child; Chromosomes, Human, Pair 18; Female; Fetus; Humans; Infant; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35452657
DOI: 10.1016/j.jpeds.2022.04.010 -
Journal of Clinical Medicine Mar 2022Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter... (Review)
Review
Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter abnormalities, and intellectual disabilities. Trisomies are generated by an error of chromosomal segregation during cell division. Accumulating evidence has shown that deregulated gene expression resulting from the triplication of chromosomes 13 and 18 is associated with many disturbed cellular processes. Moreover, a disturbed oxidative stress status may be implicated in the occurrence of fetal malformations. Therefore, a literature review was undertaken to provide novel insights into the evaluation of trisomy 13 (T13) and 18 (T18) pathogeneses, with a particular concern on the oxidative stress. Corresponding to the limited literature data focused on factors leading to T13 and T18 phenotype occurrence, the importance of oxidative stress evaluation in T13 and T18 could enable the determination of subsequent disturbed metabolic pathways, highlighting the related role of mitochondrial dysfunction or epigenetics. This review illustrates up-to-date T13 and T18 research and discusses the strengths, limitations, and possible directions for future studies. The progressive unification of trisomy-related research protocols might provide potential medical targets in the future along with the implementation of the foundation of modern prenatal medicine.
PubMed: 35407395
DOI: 10.3390/jcm11071787