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Trisomy 13 Clinical Studies

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5 papers 0 to 25 followers
By Victoria Miller Trisomy 18 Foundation
https://www.readbyqxmd.com/read/27530709/medical-interventions-and-survival-by-gender-of-children-with-trisomy-18
#1
Jennifer H Donovan, Genomary Krigbaum, Deborah A Bruns
Research has typically shown limited aggressive medical interventions and low survival rates for children with full trisomy 18. Recent studies provide more positive results. This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: "hospice or no intervention" (n = 5, 6.1%), "necessary interventions (enteral feeding, ventilator use)" (n = 46, 56...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27010151/long-term-survival-of-full-trisomy-13-in-a-14-year-old-male-a-case-report
#2
G Imataka, S Hagisawa, A Nitta, H Hirabayashi, H Suzumura, O Arisaka
Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Arterial septal defect and patent ductus arteriosus were recognized using ultrasonography after birth. Major cerebral malformation such as holoprosencephaly or cerebellar hypoplasia were also not revealed. After 5 months of his age, artificial ventilation therapy for dyspnea associated with laryngomalacia was required...
March 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27018625/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#3
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
March 28, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27545023/procedures-in-the-1st-year-of-life-for-children-with-trisomy-13-and-trisomy-18-a-25-year-single-center-review
#4
Justin B Josephsen, Eric S Armbrecht, Stephen R Braddock, Catherine C Cibulskis
Care of the child born with trisomy 13 or 18 has evolved over the past few decades, leading to increased healthcare utilization. We hypothesized that there has been an increase in procedures across all intensity types, including major, invasive procedures. We performed a retrospective-cohort study of children with trisomy 13 or 18 from 1990 to 2014 in a quaternary, free-standing children's hospital. Children were identified using ICD-9 billing diagnoses. Procedures were identified during these encounters and categorized by intensity (major, intermediate, or minor)...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27617759/-survival-medical-care-and-quality-of-life-in-children-with-trisomy-13-and-18
#5
A Kusztrich, D Hüseman, L Garten, H Neitzel, C Bührer
BACKGROUND: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life. METHODS: 30-year single-center retrospective chart analysis (1980-2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant's quality of life and talk about their experiences with medical staff. RESULTS: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved...
September 2016: Klinische Pädiatrie
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