Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Authors

  • Asuman Özkara Departments of Biochemistry, Hacettepe University Faculty of Medicine, Ankara
  • Ebru Dikensoy Department of Obstetric and Gynecology Gaziantep University Faculty of Medicine Gaziantep, Turkey
  • Tülay Özlü Departments of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara
  • Meral Topçu Departments of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara
  • Nur Çakar Departments of Histology and Embriyology, Hacettepe University Faculty of Medicine, Ankara
  • Mehmet Sinan Beksaç Departments of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara

Keywords:

Prenatal diagnosis, Sandhoff disease, Chorionic villus sampling, Hexosaminidase

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.

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Published

2008-04-23

How to Cite

1.
Özkara A, Dikensoy E, Özlü T, Topçu M, Çakar N, Beksaç MS. Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample. Gynecol Obstet Reprod Med [Internet]. 2008Apr.23 [cited 2022Jul.7];14(1):4-6. Available from: https://gorm.com.tr/index.php/GORM/article/view/420

Issue

Section

Obstetrics; Maternal Fetal Medicine and Perinatology