Seven additional genetic diseases that can be tested for embryos or fetuses, such as squalene synthase deficiency, are selected

Aug 28, 2025

Seven additional genetic diseases that can be tested for embryos or fetuses, such as squalene synthase deficiency, are selected
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Squalene synthetase deficiency, Golin syndrome, gill-eye-face syndrome, microcephaly with choroidal retinopathy, restricted dermatosis, IPEX syndrome, and TERT-associated congenital keratosis were additionally selected as genetic diseases capable of genetic testing for embryos or fetuses.

The Ministry of Health and Welfare announced a total of 237 genetic diseases, including seven additional diseases, on its website on the 28th.

Genetic diseases that can be genetically tested for embryos or fetuses are selected by the expert committee by comprehensively reviewing ▲ symptom onset age, ▲ severity and severity, and ▲ treatment and management potential for diseases requested to be reviewed by patients.




The additional selected diseases were reviewed by June 15, 2025, and among the received diseases, Charco-Marie-Tus disease and overlapping syndrome in 28 parts of the long arm of the X chromosome were included in the existing testable genetic diseases and were not further selected.

President Chung's Public Health Policy Officer selects additional genetic diseases that can be tested for embryos or fetuses every quarter. It aims to help prospective parents develop a safe birth plan with less anxiety about the possibility of conceiving a child with a deadly genetic condition in a household with genetic diseases. "We are carefully reviewing with experts the need to protect the right to life of an embryo or fetus from undue concern about genetic diseases as to whether the disease requested to be reviewed can be diagnosed early, treated appropriately, and managed, and it is unclear whether the genetic mutation listed in the application is the cause of the disease."





This article was translated by Naver AI translator.