{Reference Type}: Journal Article
{Title}: [Expert consensus on the genetic counseling for Dystrophinopathies].
{Author}: Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening ;Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association ;Medical Genetics Branch Of Chinese Medical Doctor Association ;Genetic Diagnosis And Precision Medicine Branch Of The Chinese Association Of Birth Health And Science ;Liu X;Zhao Y;Wang H;Li-Ling J;Wu L;Lu Y;Chang Q;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 41
{Issue}: 6
{Year}: 2024 Jun 10
暂无{DOI}: 10.3760/cma.j.cn511374-20240122-00062
{Abstract}: Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.