Prenatal Diagnosis Of Tay-Sachs Disease

Authors

  • Özgür Özyüncü Hacettepe University, Faculty of Medicine Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology, Ankara
  • Derman Başaran Hacettepe University, Faculty of Medicine Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology, Ankara
  • Asuman Özkara Hacettepe University, Faculty of Medicine Department of Medical Biochemistry, Ankara
  • Meral Topçu Hacettepe University, Faculty of Medicine Department of Pediatrics Pediatric Neurology Unit, Ankara
  • Sinan Beksaç Hacettepe University, Faculty of Medicine Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology, Ankara

Keywords:

Prenatal diagnosis, Tay-sachs, Gangliosidosis

Abstract

OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease.
STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay-Sachs disease in 8 patients between 2000 and 2008 are reported. The samples were obtained by chorionic villus sampling or by cordocentesis. Total hexosaminidase level and the percentage of isoenzyme ß-Hexosaminidase A were measured in fetal samples.
RESULTS: There were 8 patients in diagnosed prenatatlly between 2000-2008. Sufficient material for enzyme analysis was obtained without any complications. Total hexosaminidase levels and the percentage of hexosaminidase were in normal limits in all fetal samples. All pregnancies ended up with uneventful term births.
CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

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Published

2010-04-10

How to Cite

1.
Özyüncü Özgür, Başaran D, Özkara A, Topçu M, Beksaç S. Prenatal Diagnosis Of Tay-Sachs Disease. Gynecol Obstet Reprod Med [Internet]. 2010Apr.10 [cited 2021May8];16(1):9-11. Available from: https://gorm.com.tr/index.php/GORM/article/view/327

Issue

Section

Obstetrics; Maternal Fetal Medicine and Perinatology

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