Genetic diseases that cause miscarriage

Genetic diseases that cause miscarriage can be prevented and treated through genetic counseling, prenatal diagnosis and assisted reproductive technology. Common causes include chromosomal abnormalities, single-gene genetic diseases and multi-gene genetic diseases. Chromosome abnormalities are the most common cause of miscarriage, accounting for about 50%-60%, including abnormal chromosome number and structural abnormalities. Single-gene genetic diseases such as thalassemia and cystic fibrosis may also cause miscarriage. Multi-gene genetic diseases such as congenital heart disease and neural tube defects are associated with the risk of miscarriage.

1. Chromosome abnormality is one of the main causes of miscarriage, including numerical abnormalities and structural abnormalities. Numerical abnormalities include trisomy syndrome and monosomy syndrome, and structural abnormalities include translocation and inversion. These abnormalities may lead to abnormal embryonic development and ultimately miscarriage. Preventive measures include genetic counseling and prenatal diagnosis, such as amniocentesis and chorionic villus sampling, and appropriate measures can be taken if abnormalities are discovered early.

2. Single gene genetic diseases such as thalassemia and cystic fibrosis may lead to miscarriage. Thalassemia is caused by mutations in the hemoglobin gene. Patients may suffer from severe anemia, which affects fetal development. Cystic fibrosis is a genetic disease that affects the lungs and digestive system and may lead to fetal maldevelopment. Through genetic testing and genetic counseling, carriers can understand the risks and choose the appropriate way to have children.

3. Polygenic genetic diseases such as congenital heart disease and neural tube defects are associated with the risk of miscarriage. Congenital heart disease is caused by the combined effects of multiple genes and environmental factors, which may lead to abnormal fetal heart development. Neural tube defects such as spina bifida and anencephaly may be related to abnormal folic acid metabolism. Folic acid supplementation and regular prenatal examinations can help reduce the risk.

4. Genetic counseling is an important measure to prevent miscarriage caused by genetic diseases. Through family history surveys, genetic testing and other methods, the genetic risk of couples is assessed and fertility advice is provided. For high-risk couples, assisted reproductive technology such as preimplantation genetic diagnosis (PGD) can be selected to screen healthy embryos for transplantation to reduce the risk of miscarriage.

5. Prenatal diagnosis is an important means of early detection of genetic diseases. Fetal chromosome and gene abnormalities can be detected through amniocentesis, chorionic villus sampling, non-invasive prenatal genetic testing and other methods. Early detection of abnormalities can enable timely measures to be taken, such as termination of pregnancy or intrauterine treatment, to reduce the risk of miscarriage.

Genetic diseases that cause miscarriage can be prevented and treated through genetic counseling, prenatal diagnosis and assisted reproductive technology. Chromosome abnormalities, single-gene genetic diseases and multi-gene genetic diseases are the main causes. Through genetic testing, genetic counseling and prenatal diagnosis, couples can understand genetic risks and take corresponding measures to reduce the risk of miscarriage. Choosing the right way to give birth and regular prenatal examinations can help improve the success rate of childbirth and protect the health of mothers and babies.