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KMID : 1189120070040020186
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대한의학유전학회지
2007 Volume.4 No. 2 p.186 ~ p.189
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Controversial issues in the legal restriction for Prenatal genetic testing in Korea
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Choi Ji-Young
Jeong Seon-Yong
Kim Hyon-Ju
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Abstract
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More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically Possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is per milled for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; It is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Montes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Montes disease. Montes disease (MNK) is an X-linked recessive disorder characterized by neurodegenerati on, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestlnal tract in quantities adequate for meeting nutritional needs.These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Montes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease Is not Included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Montes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.
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KEYWORD
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Bioethics and Biosafety Law, Prenatal genetic testing, Genetic disease, Prenatal diagnosis, Menkes disease
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