scholarly journals Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

2015 ◽  
Vol 35 (9) ◽  
pp. 913-918 ◽  
Author(s):  
Khuram Ahmed ◽  
Mushtaq Ahmed ◽  
Barbara Potrata ◽  
Thomas A. Willis ◽  
Hilary L. Grant ◽  
...  
Keyword(s):  
Diagnostic Testing ◽  
Retinal Disease ◽  
Patient Attitudes ◽  
Inherited Retinal Disease ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing

Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population

2021 ◽  
Author(s):  
Catherine M. Igel ◽  
Sara Rabin‐Havt ◽  
Fatima Estrada Trejo ◽  
Georgios Doulaveris ◽  
Ruth Eisenberg ◽  
...  
Keyword(s):  
Antenatal Care ◽  
Urban Population ◽  
Diagnostic Testing ◽  
Patient Attitudes ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing

Anxiety reduction after early and mid-trimester prenatal diagnostic testing

1998 ◽  
Vol 1 (1) ◽  
pp. 39-44 ◽  
Author(s):  
G. Erlick Robinson ◽  
J. A. M. Johnson ◽  
R. D. Wilson ◽  
M. Gajjar
Keyword(s):  
Diagnostic Testing ◽  
Anxiety Reduction ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing

X-linked Adrenoleukodystrophy

2016 ◽  
Author(s):  
Björn M. van Geel ◽  
Marc Engelen ◽  
Stephan Kemp
Keyword(s):  
Axonal Degeneration ◽  
Age Of Onset ◽  
Diagnostic Testing ◽  
Neurological Deficits ◽  
Long Chain Fatty Acids ◽  
Adrenocortical Insufficiency ◽  
Beta Oxidation ◽  
Prenatal Diagnostic ◽  
Prenatal Diagnostic Testing ◽  
Female Carriers

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.

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