Using chromosomal and single-gene non-invasive prenatal testing to identify the cause of congenital heart defects

2021 ◽  
Vol 132 ◽  
pp. S319-S320
Author(s):  
Mark Hajjar ◽  
Pooja Mohan ◽  
Jacob Wulff ◽  
Melissa Maisenbacher ◽  
J. Dianne Keen-Kim ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Single Gene ◽  
Prenatal Testing ◽  
Non Invasive

scholarly journals Determination of urinary d-/l-arabinitol ratios as a biomarker for invasive candidiasis in children with cardiac diseases

2010 ◽  
Vol 59 (12) ◽  
pp. 1490-1496 ◽  
Author(s):  
Teresa J. Stradomska ◽  
Dorota Sobielarska ◽  
Zbigniew Mielniczuk ◽  
Dorota Jagiełłowicz ◽  
Małgorzata Syczewska ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Congenital Heart Defects ◽  
Invasive Candidiasis ◽  
Predictive Value ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Diseases ◽  
Non Invasive ◽  
Antifungal Chemotherapy

A non-invasive, non-culture-based method of determining urinary d-/l-arabinitol (d-/l-ARA) ratios was investigated as a tool for the diagnosis of invasive candidiasis in nosocomial paediatric infection cases. The study encompassed 138 children aged 4 days to 16 years (mean±sd=1.6±4.2 years) with congenital heart defects (91.4 %) or with rhythm disorders or circulatory failure (8.6 %). ARA enantiomers were detected by GC using an electron capture detector. Positive d-/l-ARA ratios were found for 11/11 patients with proven candidiasis and 17/19 patients with clinically suspected invasive candidiasis. Thirty children were undergoing antifungal chemotherapy. d-/l-ARA ratios (mean±sd) were 2.601±0.544 in hospitalized cardiac patients without fungal infection and 5.120±1.253 in those receiving antifungal therapy (P<0.001). The sensitivity of the method was 100 %, the specificity 97.2 %, the positive predictive value was 78.6 % and the negative predictive value was 100 %.

scholarly journals 889: Utility of Noninvasive Prenatal Testing (NIPT) in evaluation of Congenital Heart Defects (CHD)

2019 ◽  
Vol 220 (1) ◽  
pp. S577
Author(s):  
Elizabeth Cutting ◽  
Ozhan M. Turan ◽  
Amanda Higgs ◽  
Christopher Harman ◽  
Sifa Turan
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing

scholarly journals Sedation and anaesthesia for cardiac catheterisation

2020 ◽  
pp. S19-S21
Author(s):  
A Schure
Keyword(s):  
Treatment Option ◽  
Congenital Heart Defects ◽  
Diagnostic Tool ◽  
Cardiac Mri ◽  
Congenital Heart ◽  
Imaging Techniques ◽  
Heart Defects ◽  
Cardiac Catheterisation ◽  
Paediatric Cardiology ◽  
Non Invasive

Since the introduction of cardiac catheterisation for Paediatric Cardiology in 1947, the subspecialty has seen dramatic changes. The advancement of non-invasive imaging techniques such as echocardiography, CT and cardiac MRI has shifted the focus for paediatric cardiac catheterisations from a primarily diagnostic tool (to define anatomy, assess haemodynamics and calculate shunts) to an important treatment option for various congenital heart defects.

scholarly journals Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk

2020 ◽  
Vol 30 (2) ◽  
pp. 219-226
Author(s):  
Christopher A. Crawford ◽  
Courtney E. Vujakovich ◽  
Lindsey Elmore ◽  
Emily Fleming ◽  
Benjamin J. Landis ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Genetic Risk ◽  
Congenital Heart ◽  
Heart Defects ◽  
Single Gene ◽  
Positive Family History ◽  
School Science ◽  
Good Recall ◽  
Adolescent Population ◽  
History Of

AbstractCongenital heart defects (CHDs) occur in 8 of 1000 live-born children, making them common birth defects in the adolescent population. CHDs may have single gene, chromosomal, or multifactorial causes. Despite evidence that patients with CHD want information on heritability and genetics, no studies have investigated the interest or knowledge base in the adolescent population. This information is necessary as patients in adolescence take greater ownership of their health care and discuss reproductive risks with their physicians. The objectives of this survey-based study were to determine adolescents’ recall of their own heart condition, to assess patient and parent perception of the genetic contribution to the adolescent’s CHD, and to obtain information about the preferred method(s) for education. The results show that adolescent patients had good recall of their type of CHD. Less than half of adolescents and parents believed their CHD had a genetic basis or was heritable; however, adolescents with a positive family history of CHD were more likely to believe that their condition was genetic (p = 0.0005). The majority of patients were interested in receiving additional genetics education and preferred education in-person and in consultation with both parents and a physician. The adolescents who felt most competent to have discussions with their doctors regarding potential causes of their heart defect previously had a school science course which covered topics in genetics. These results provide insight into adolescents’ perceptions and understanding about their CHD and genetic risk and may inform the creation and provision of additional genetic education.

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