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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2008 / Cilt: 14 - Sayı: 1

Sandhoff hastalığının koryonik villus örneğinde enzim analizi ile prenatal tanısı

Prenatal diagnosis of sandhoff disease by enzyme analysis of chorionic villus sample

H. Asuman ÖZKARA
Ebru DİKENSOY
Tülay ÖZLÜ
Meral TOPÇU
A. Nur ÇAKAR
M. Sinan BEKSAÇ
Pages
4–6
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Hexosaminidase (Hex) assay using fluorogenic substrate is useful for specific prenatal diagnosis of SD.

📌 3 Key Takeaways

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Objective & Hypothesis:OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation.
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Key Findings & Data:The diagnosis was based on the absence or near-absence of total hexosaminidase activity using fluorogenic synthetic substrate 4-methylumbelliferyl beta-D-glucosaminide.
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Conclusion & Impact:Hexosaminidase (Hex) assay using fluorogenic substrate is useful for specific prenatal diagnosis of SD.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of total hexosaminidase activity using fluorogenic synthetic substrate 4-methylumbelliferyl beta-D-glucosaminide. RESULTS: 7 fetuses were found to be affected and the pregnancies were terminated. The remaining seven fetuses were found to be normal. The diagnosis were confirmed after delivery by enzyme analysis of leucocytes isolated from peripheric blood. CONCLUSION: Chorionic villus sampling (CVS) is a safe and accurate method for the first trimester prenatal diagnosis of various genetical disorders if the amount of the chorionic villi taken is sufficient for enzyme analysis and if it is well separated from maternal blood or decidua. Hexosaminidase (Hex) assay using fluorogenic substrate is useful for specific prenatal diagnosis of SD.

Özet

Sandhoff hastalığı riski taşıyan 9 aileye ait 14 gebelikte, 11-14. gebelik haftaları arasında alınan koryonik villus örneğinde (CVS) enzim analizi ile prenatal tanı yapıldı. Tanı, total hekso-zaminidaz aktivitesinin, fuluorojenik sentetik substrat, 4-methy-lumbelliferyl beta-D-glucosaminide kullanılarak, tam veya tama yakın yokluğunun saptanması ile konuldu. Yedi fetus hasta bulundu ve gebelik sonlandırıldı. Kalan 7 fetus normal bulundu. Tanı doğumdan sonra enzim analizi ile doğrulandı. Koryonik villus örneği eğer enzim analizi için yeterli miktarda alınır ve maternal kan veya desiduadan ayrılırsa ilk trimester tanısı için güvenli ve doğru bir örnektir. Heksozaminidaz (hex) ölçümünde kullanılan fuluorojenik substrat Sandhoff hastalığının özgül prenatal tanısında kullanışlıdır.

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Cite This Article

ÖZKARA, H. A., DİKENSOY, E., ÖZLÜ, T., TOPÇU, M., ÇAKAR, A. N., BEKSAÇ, M. S. (2008). Sandhoff hastalığının koryonik villus örneğinde enzim analizi ile prenatal tanısı. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 14 - Sayı: 1, 4–6. https://ajindex.com/articles/227143

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References (1)

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