To make a correct diagnosis and decision on genetic diseases, there are generally four steps:
Step 1: Doctors make a correct diagnosis by asking about family history, drawing genealogy, conducting clinical and laboratory examinations (cytogenetics, biochemistry, immunology, endocrinology, and gene diagnosis if necessary) and auxiliary examinations (ultrasound, electrocardiogram, electroencephalogram, electromyography, X-ray examination, etc.). ) and determine whether it is a genetic disease and what kind of genetic disease it is.
Step 2: If it is diagnosed as a genetic disease, use the basic principles and methods of genetics to determine the heritability of the genetic disease and related blood relatives, calculate the risk of recurrence, and predict the risk of onset.
The third step: explain the genetic mode, recurrence risk and prognosis of genetic diseases.
Step 4: Provide prenatal screening (such as chromosomal diseases) and prenatal diagnosis (chromosomal diseases and monogenic diseases), so that the parties can make appropriate choices or decisions on the basis of understanding.
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