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Trisomy 13 

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  1. Open Access 13-12-2023 | Trisomy 18 | Online First

    Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13

    Cell-free DNA testing (a.k.a. cfDNA screening or NIPT) has revolutionized prenatal screening for the common autosomal trisomies [ 1 ]. A recent meta-analysis by Rose et al. found that in the general population, the detection rate for both trisomy

  2. Open Access 01-12-2020 | Trisomy 13 | OriginalPaper

    Opioid-free anesthesia for a child with trisomy 13 with obstructive sleep apnea: a case report

    Trisomy 13 is a chromosomal disorder resulting in an anatomically abnormal airway, central nervous system abnormalities that include respiratory depression, and congenital heart disease [ 1 ]. The incidence of this pathology is approximately 1 per …

  3. 01-10-2020 | Heart Surgery | ReviewPaper

    Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making

    There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus expectant treatment, and rarely there has been an effort to …

  4. 01-02-2019 | OriginalPaper

    Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease

    We sought to evaluate the mortality, risk factors for mortality, and resource utilization following cardiac interventions in trisomy 13 (T13) and 18 (T18) children. All T13 and T18 children who underwent a cardiac intervention from January 1999 to …

  5. 01-03-2019 | OriginalPaper

    Congenital Heart Surgical Admissions in Patients with Trisomy 13 and 18: Frequency, Morbidity, and Mortality

    Congenital heart defects are common among patients with trisomy 13 and 18; surgical repair has been controversial and rarely studied. We aimed to assess the frequency of cardiac surgery among admissions with trisomy 13 and 18, and evaluate their …

  6. Open Access 01-12-2018 | OriginalPaper

    Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report

    Trisomy 13 is one of the most common autosomal aneuploidies, with a prevalence of 1.18–1.39 cases per 10,000 live births in the United States [ 1 ]. Mortality is very high for this condition, with a median survival of 2.5–10 days and less than 10% …

  7. 01-01-2018 | OriginalPaper

    Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18

    Cardiac intervention remains controversial in patients with trisomy 13 and 18 and little is known about factors that may affect outcomes. The goal of this study was to evaluate preoperative factors and surgical approach with respect to outcomes in …

  8. 01-09-2018 | OriginalPaper

    Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review

    The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 …

  9. 01-06-2018 | OriginalPaper

    Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18

    Families that choose to continue a pregnancy with a prenatal diagnosis of Trisomy 13/18 are a minority that present unique challenges for those in charge of their care. This study investigated the extent to which these patients felt supported by …

  10. Open Access 01-12-2018 | OriginalPaper

    Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

    Trisomy 16 is reported to be the most frequent trisomy detected in first trimester spontaneous abortions [ 1 , 2 ]. Few cases have also been reported in second and third trimesters. Among them, some are confined to the placenta [ 3 ]. The range of …

  11. 01-08-2016 | OriginalPaper

    New osseous soft markers for trisomy 13, 18 and 21

    The incidences of the most common and viable trisomies in live births vary from 1:650 (trisomy 21), 1:10000 (trisomy 18) to 7:10,000 (trisomy 13). Today prenatal ultrasound is an accepted diagnostic tool for prenatal detection of trisomy 21, 18 …

  12. Open Access 01-12-2013 | OriginalPaper

    The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series

    Trisomy 18 (T18) is the second commonest autosomal aneuploidy after Trisomy 21, with an approximate prevalence of 5.05 per 10,000 births in the region in which this study was conducted (Cork, Ireland). Trisomy 13 (T13) is the third commonest …

  13. 01-03-2002 | BriefCommunication

    Berry Syndrome with Trisomy 13

    We report on 2-day-old neonate with trisomy 13 with coexistent distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, interrupted aortic arch, intact ventricular septum, and a patent ductus arteriosus diagnosed by …

  14. 01-06-2002 | OriginalPaper

    A girl with partial trisomy 5q35→qter and partial trisomy 13pter→q31 derived via a maternal balanced translocation

  15. 01-07-2002 | BriefCommunication

    Splenopancreatic Field Abnormality in Trisomy 13

  16. 01-01-1998 | OriginalPaper

    Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12—18 weeks and in a trisomy 16 mouse

     An increase in the nuchal translucency that can be detected at 10–14 weeks of gestation by ultrasound forms the basis for a screening test for chromosomal abnormality. Several mechanisms leading to this increase in skin thickness have been …

  17. Open Access 01-12-2007 | OriginalPaper

    Histogenesis of retinal dysplasia in trisomy 13

    The retina is a striking example of architectural polarity. At its vitreal surface, it is bordered by the retinal-ganglion cells, and sclerad by the retinal pigmented epithelium (RPE). Adjacent to the RPE, photoreceptor nuclei comprise the outer …

  18. 01-02-2004 | Report

    Splenopancreatic Field Abnormality Is Not Unique to Trisomy 13

    Splenopancreatic fusion is an uncommon finding, usually only seen as part of the splenopancreatic field abnormality associated with trisomy 13. It may present itself either as ectopic splenic tissue in the cauda pancreatis, as ectopic pancreatic …

  19. 01-08-2005 | OriginalPaper

    Left Ventricular Noncompaction Cardiomyopathy in Association with Trisomy 13

    In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has …

  20. 01-07-2010 | OriginalPaper

    Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism

    Robertsonian translocations are probably the most frequent translocations in man, with a prevalence of 1:1,000 newborns in the general population [ 11 ]. The most common Robertsonian translocation is between chromosomes 13 and 14. Carriers of a …

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