title: Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?
abstract: The discovery of circulating fetal nucleic acids is a great step on the way of developing non-invasive prenatal diagnosis (NIPD) for genetic disorders. Here, we briefly discuss the current applications of circulating fetal nucleic acids in genetic testing for different kinds of hereditary diseases with an emphasis on using circulating cell-free fetal DNA in diagnosis of monogenic disorders. As the genetic skin disorders impair the quality of life at different levels, we next discuss some ethical issues in NIPD for genetic skin diseases of various severities and in particular, the responsibility of doctors and parents, respectively, in the prenatal genetic testing.
authors.affiliation: Institute for Science, Ethics and Innovation, University of Manchester, Manchester, UK.
authors.forename: Yonghui
authors.initials: Y
authors.lastname: Ma
authors.forename: He
authors.initials: H
authors.lastname: Gong
authors.forename: Yaran
authors.initials: Y
authors.lastname: Wen
mesh_terms: D004992:Ethics, Medical; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D017497:Hidradenitis Suppurativa / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D017490:Ichthyosis, Lamellar / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009696:Nucleic Acids / Q000235:genetics*; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000941:ethics / Q000379:methods*; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D009696:Nucleic Acids