Why is genetic counseling necessary?
Birth defects are an important factor affecting the quality of the population. Every year, about 600,000 defective children are born worldwide, and about half of them survive, putting a huge burden on families and society. Reducing births with congenital defects is an important part of improving the quality of the population and a challenge for all of humanity.
Genetic counseling refers to the occurrence of a genetic disease in a family, the risk of recurrence, and the problems faced in diagnosis and prevention, so that patients and their families can have a comprehensive understanding of the genetic disease, choose appropriate decisions, and reduce the birth of children with genetic diseases. Genetic counseling includes premarital, preconception, and prenatal genetic eugenics counseling.
Genetic counseling is required for 8 groups of people
1. Couples who have had a child with a genetic disease.
2, couples in which both partners or family members suffer from certain genetic diseases or congenital malformations
3, parents of children with unexplained mental retardation or congenital malformations
4, couples with unexplained recurrent miscarriages or with stillbirths and other conditions
5, senior pregnant women over 35 years of age
6, pregnant women who were exposed to adverse environmental factors during pregnancy
7, those with abnormalities found in chromosome examination or screening for common genetic diseases
8.Marriage between close relatives.
Learn about the following through genetic counseling.
1.Understand whether you belong to the category of genetic diseases.
2.Know the essence of genetic diseases and the mode of inheritance.
3.Knowledge of the diagnosis and testing methods of genetic diseases
4. the available interventions and treatment methods.
Common hereditary diseases related to genetic counseling
1. Chromosomal diseases, which are diseases caused by abnormalities in the number or structure of chromosomes. To date, there are more than 3,000 types of diseases, of which more than 100 are classified as common genetic diseases. Chromosomal abnormalities account for 50-60% of spontaneously aborted embryos, and the incidence of chromosomal abnormalities in newborns is 0.5-0.7%. The most common chromosomal disorder is trisomy 21, also known as Down’s syndrome, which is one of the most important causes of severe congenital mental retardation, in addition to trisomy 18, trisomy 13, fragile X chromosome, etc.
2, single gene genetic disease, is caused by the abnormality of a gene in the body of the disease. There are about 4000 human monogenic diseases, and the common ones in clinical practice are metabolic diseases such as: phenylketonuria, hemophilia, thalassemia (high prevalence in Guangdong and Guangxi), or neurological diseases such as pseudohypertrophic muscular dystrophy, hereditary chorea, etc.
3, congenital malformations. About 15-20% of human congenital malformations are caused by chromosomal diseases and monogenic diseases, 10% are caused by adverse environmental factors, and 70% may be the result of multiple genetic mutations due to the interaction of genetic and environmental factors. Clinically common are anencephaly, spina bifida, cleft lip and palate, and congenital heart disease.
The common genetic disorders mentioned above are important causes of adverse pregnancy and childbirth history. Couples with adverse childbirth history or family history should undergo genetic counseling as soon as possible to find out the causes and choose the appropriate decision to avoid the birth of defective children.