1. Be sure to get a genetic diagnosis before you get pregnant. The purpose of genetic diagnosis is to confirm the diagnosis on the one hand, and to prepare for raising the next child on the other. Genetic diagnosis is a relatively delicate manual work, not simply using the instrument to get the results immediately. At present, our department usually issues the genetic diagnosis test report in 6 weeks. Only when the results of genetic diagnosis are available, we can issue a prenatal test report for the fetus at 1 month after the amniotic fluid is collected; otherwise, the report cannot be issued within 1 month. This makes it difficult to decide early whether to keep the fetus or not. Zhang Huiwen, Department of Pediatric Endocrinology, Shanghai Xinhua Hospital 2. Regarding the prenatal diagnosis of lysosomal storage disease, including mucopolysaccharide storage disease, Gaucher disease, Niemann’s disease, cerebral leukodystrophy, etc., it is recommended to do enzyme activity testing and genetic diagnosis at the same time, in order to make the test results as accurate as possible. 3, on the question of whether the girl does not develop the disease in the boy. Most of the genetic diseases are autosomal recessive and have nothing to do with gender. Both boys and girls may develop the disease. For diseases that are hereditary, such as mucopolysaccharide storage disorder type 2, if the fetus is a boy, it is more likely to have a problem, reaching 50%; if it is a girl, it is less likely to have a problem, but it may be a carrier and will pass on the disease-causing gene to the next generation.