["But I have done the genetic tests...". The obligation to identify genetic carriers and prenatal genetic tests for new mutations].
| Autor: | Maayan C; Israel Familial Dysautonomia Center, Department of Pediatrics, Hadassah University Hospital Mount Scopus, Jerusalem, Israel. cmaayan@hadassah.org.il, Holzer N, Rosenfeld N, Ivelin Y |
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| Jazyk: | hebrejština |
| Zdroj: | Harefuah [Harefuah] 2012 Jun; Vol. 151 (6), pp. 346-8, 378. |
| Abstrakt: | Introduction: Genetic tests are developing quickly. Therefore, genetic screening tests which were carried out before the first pregnancy are not always sufficient for the subsequent pregnancies. Familial dysautonomia (FD) is a disabling autosomal recessive disorder affecting Ashkenazi Jews in which the carrier frequency varies from 1:17 to 1:32. In 2001, the FD gene was discovered and the genetic tests were made available in most Israeli hospitals or institutes. In 2008, the FD genetic test was included in the "health basket" by the Israeli Ministry of Health. Aims: Investigating the reasons for new FD patients born after 2001 as a model for other genetic diseases. Methods: A retrospective study was performed from medical chart data. Results: Since 2001, forty FD patients were born to Israeli parents. Eleven patients were born to mothers who had undergone genetic tests before 2001, however, they were not informed that new genes had been discovered. This has led to a number of law suits. Furthermore, the FD test was not offered to another woman who had some of the genetic tests performed after 2001. Religious parents of 9 FD patients had married long before the FD genetic test became avaiLable. Four children were born to families who were unaware that there was an FD patient in their extended family. Discussion and Summary: The burden on the patients, families and the National Health Service for treating FD and other genetic diseases is enormous. Updating new genetic information might prevent new cases. Conclusions: Before each new pregnancy, it is necessary to update the population about new genetic tests. |
| Databáze: | MEDLINE |
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