What is Genetic Counseling?

Genetic counseling is the consultation and consultation of consulting physicians and consultants on all the problems faced by the etiology, genetic methods, diagnosis, treatment, prevention, and recurrence risk of genetic diseases in their families. The process is implemented with the help of a consulting physician to achieve prevention and treatment effects. In addition to trauma, most spontaneous diseases can be included in the scope of genetic counseling.

Genetic Counseling, according to the Genetic Counseling Branch of the Chinese Genetics Society ^[1]

Genetic counseling is an essential part of the transformation of genetic sequencing into clinical applications, and

The next generation of fertilized eggs or mothers due to environmental or genetic influences

The steps for genetic counseling are:

(1) Make a correct diagnosis of the disease in question to determine whether it is a single gene,

According to the "Notice of the Ministry of Health on Printing and Distributing the Related Supporting Documents of the" Administrative Measures for Prenatal Diagnosis Techniques ", there are nine common genetic counseling subjects:

Parents with unexplained mental retardation, schizophrenia or congenital malformations who cannot take care of themselves

Unexplained recurrent abortion or

General genetic counselling goes through the following procedures:

Symptom analysis

Information includes analysis of present symptoms, chief complaint, physical examination, clinical experience, medical history, birth history (history of abortion, stillbirth, premature birth), marriage history (marriage age, spouse health status), environmental factors and exposure to special chemicals and special reactions Situation, age, area of residence, nationality.

Identifying genetic diseases

Based on the collected information, corresponding laboratory tests are performed, such as chromosome analysis and genetic diagnosis.

Prenatal diagnosis

Based on current disease analysis and clinical experience. Take appropriate prenatal diagnostic methods.

The main clinical specimen collection methods are chorionic puncture, amniocentesis, and umbilical vein puncture. Prenatal diagnosis methods include ultrasound diagnosis, biochemical immunity, cytogenetic diagnosis, and molecular genetic diagnosis.