Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.
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http://dx.doi.org/10.1002/ajmg.a.62133 | DOI Listing |
J Endocr Soc
January 2025
Department of Pathology, Stanford University, Stanford, CA 94304, USA.
In the last 10 years the field of prenatal diagnosis has been significantly reshaped followed by the implementation of noninvasive prenatal cell-free DNA (cfDNA) testing methodologies in clinical practice. Based on a superior performance and higher sensitivity and specificity than the former practice of biochemical markers screening, the American College of Obstetricians and Gynecologists and American College of Medical Genetics and Genomics recommend noninvasive prenatal cfDNA screening for trisomy 21, 18, 13, and sex chromosome aneuploidy to all pregnant people. While cfDNA screening is helpful in risk assessment for the most common autosomal trisomies, cfDNA also provides information about fetal sex chromosomes.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
Department of Neuroscience, City University of Hong Kong, Hong Kong, Hong Kong.
Introduction: Antisense oligonucleotides (ASOs) have shown promise in reducing amyloid precursor protein (APP) levels in neurons, but their effects in astrocytes, key contributors to neurodegenerative diseases, remain unclear. This study evaluates the efficacy of APP ASOs in astrocytes derived from an individual with Down syndrome (DS), a population at high risk for Alzheimer's disease (AD).
Methods: Human induced pluripotent stem cells (hiPSCs) from a healthy individual and an individual with DS were differentiated into astrocytes.
Biosci Rep
January 2025
Scotland's Rural College Animal and Veterinary Sciences Research Group, Edinburgh, United Kingdom.
Approximately one in every 800 children is born with the severe aneuploid condition of Down Syndrome, a trisomy of chromosome 21. Low blood pressure (hypotension) is a common condition associated with DS and can have a significant impact on exercise tolerance and quality of life. Little is known about the factors driving this hypotensive phenotype and therefore therapeutic interventions are limited.
View Article and Find Full Text PDFSudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFZ Geburtshilfe Neonatol
January 2025
Neonatologie, Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Erlangen, Germany.
The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.
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