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Prenatal diagnosis as a test for genodermatoses: its past, present and future
1Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. shimizu@med.keio.ac.jp
Journal of Dermatological Science
|January 16, 1999
Summary
Prenatal diagnosis (PND) for severe genetic skin diseases has evolved from fetal skin biopsies to advanced DNA-based methods. Noninvasive techniques using fetal cells from maternal blood offer optimistic future prospects for early detection.
Area of Science:
- Medical Genetics
- Dermatology
- Reproductive Medicine
Background:
- Prenatal diagnosis (PND) for severe hereditary skin diseases began in the 1980s.
- Early methods relied on fetal skin biopsies examining ultrastructural and immunohistochemical features.
Purpose of the Study:
- To review the evolution and current state of prenatal diagnosis for severe hereditary skin diseases.
- To highlight advancements in genetic and noninvasive diagnostic techniques.
Main Methods:
- Initial PND utilized fetal skin biopsy analysis.
- Transitioned to DNA-based PND following gene identification in the 1990s.
- Current advanced methods include preimplantation genetic diagnosis (PGD) and noninvasive PND from maternal blood.
Main Results:
- PND is established for conditions like epidermolysis bullosa, oculocutaneous albinism, and Harlequin ichthyosis.
- Preimplantation diagnosis allows selection of disease-free embryos, avoiding fetal termination.
- Noninvasive PND using single fetal cells from maternal blood is technically feasible.
Conclusions:
- Prenatal diagnosis for severe genetic skin conditions has significantly advanced.
- Preimplantation diagnosis and noninvasive PND represent major progress.
- Future noninvasive PND development holds optimistic potential despite unanswered questions.