Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

Prajnya, R.; Rehder, Catherine; Phadke, Shubha R.; Bali, Deeksha

doi:10.1007/s13312-011-0130-x

Cited by 8 publications

(7 citation statements)

References 6 publications

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“…A similar suggestion was given earlier by Lake et al and confirmative prenatal diagnosis has been made for MPS IIIA/B by GAG analysis in amniotic fluid by Zhang et al . We are in total agreement with Prajnya et al who have suggested that enzyme assay results at times could be equivocal and a final conclusion to terminate the pregnancy based only on biochemical results could turn out to be an erroneous decision. Although, our study showed 99.1% correct diagnosis with one false negative and one false positive result and correct interpretation of carriers in most of the cases, we recommend that biochemical results should be correlated with mutation studies wherever possible.…”

Section: Discussionsupporting

confidence: 90%

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Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

et al. 2015

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Objective To offer accurate prenatal diagnosis of lysosomal storage disorders in early pregnancy.Method Prenatal enzymatic diagnoses of Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandoff, GM1, mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy and Batten diseases were made in uncultured chorionic villi samples by fluorometric/spectrophotometric methods.Results Of 331 prenatal enzymatic diagnosis, 207 fetuses (67%) were normal and 124 (37%) were affected. The interpretation of affected, normal and carrier fetuses was done using their respective reference ranges as well as % enzyme activity of normal mean. The prenatal molecular confirmation was feasible in 43 biochemically diagnosed fetuses. Of the 207 normal reported fetuses, post natal enzymatic confirmation was done in 23 babies, clinical status of another 165 babies was assessed as unaffected via questionnaire on telephone and 19 were lost to follow-up. In affected pregnancies, 123 opted for termination of which 44 were confirmed enzymatically after abortion. A single false positive was determined to be a carrier by prenatal mutation analysis and carried to term. ConclusionWe recommend uncultured chorionic villi for reliable prenatal enzymatic diagnosis of various lysosomal storage disorders on account of the low rate of false positive (0.5%) and false negative (2.2%) results.

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Section: Discussionsupporting

confidence: 90%

“…In India, only two to three genetic centers currently offer prenatal diagnosis of lysosomal storage disorders, and very few reports are available for a limited number of enzymes . Sheth et al (10‐year study) have shown a significant burden of lysosomal storage disorders in India .…”

Section: Introductionmentioning

confidence: 99%

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

et al. 2015

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“…A cochrane meta-analysis on the role of HSCT in GD [51] concluded that there were no clinical trials that have assessed HSCT safety and efficacy with that of the approved therapies for GD. A recent review [53] of the follow-up data of patients who underwent HSCT has suggested the need to re-evaluate this modality in selected patients in GD. However, there are no conclusive guidelines recommending the use of HSCT in GD [52].…”

Section: Follow-up and Monitoringmentioning

confidence: 99%

“…communities where consanguinity is common. Experience from India related to prenatal diagnosis of lysosomal storage disorders, importance of confirmation of proband diagnosis, and identification of the familial mutations has previously been reported [53,54].…”

Section: Genetic Counseling and Prenatal Diagnosismentioning

confidence: 99%

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

et al. 2018

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Justification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD has paucity of information and optimal management guidelines for Indian patients. Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invited experts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed and the draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016 at the annual meeting of the Indian Academy of Medical Genetics. Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems for optimal management of Gaucher disease in India and to define unique needs of this patient population. Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequently experience diagnostic delays during which severe irreversible complications occur. Leucocyte acid β-glucosidase activity is mandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathic disease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved by early initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such as seizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein are for diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrence of the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encountered in our population.

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“…Most of these proteins have already been identified. The presence of the proteins can be detected by using the appropriate substrate or using antibodies that specifically recognize that protein (Prajnya and Rehder, 2011;Singh et al, 2010).…”

Section: Enzyme Assaymentioning

confidence: 99%

Application of Biotechnology in Diagnosis and Treatment of Human Genetic Disorders

Ashine¹,

Tesema²

2019

ALST

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Biotechnology is the application of biological molecules to make useful products that can be used to solve problems in different sectors. Medical biotechnology in particular aims to know the root causes of genetic disorders and develop therapeutic strategies. Although human diseases are caused by different factors, those caused by genetic disorders are increasing in prevalent worldwide. Early detection and treatment of these condition is paramount important. Chemical treatments that cure only the symptom of genetic disorders were practiced so far to manage the effect. However, as a result of advances in understanding of biological molecules, treatment of the cause of the disease called gene therapy has been developed more popularity nowadays. Moreover, most research centers abandoned the classical techniques that are prone to error, and began to use high throughput technologies to correct genetic disorders. Among these, CRISPR Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats Associated Cas9) is the most easy to use and allows precise gene editing in higher organisms to repair disease-causing genes by homologous directed repair. The recent development of modified versions CAs9 Nickase that reduce off target effects and the "base editor" that preform without double strand DNA break and without the need to template indicated its application for therapeutic genome editing in man in the future.

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Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

Cited by 8 publications

References 6 publications

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Application of Biotechnology in Diagnosis and Treatment of Human Genetic Disorders

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