Contents:
- Medical Video: Can genetic disorder get transmitted to the fetus in IVF treatment? - Dr. Punyavathi C. Nagaraj
- Hereditary disease due to pathogenic infections
- Toxoplasmosis
- Other
- Rubella
- Cytomegalovirus
- Herpes Simplex Virus
- Hereditary disease due to genetic disorders
- Symptoms and signs of cancer due to heredity
Medical Video: Can genetic disorder get transmitted to the fetus in IVF treatment? - Dr. Punyavathi C. Nagaraj
Hereditary disease is not always just diabetes or cancer. There are two types of hereditary diseases, which are caused by pathogenic infections (such as viruses, bacteria, or parasites) and those caused by mutations of certain genes in the body. Both can be derived from parents to their children, of course, each has a different mechanism.
Hereditary disease due to pathogenic infections
This type of hereditary disease is also called vertical transmission, transfer of disease from mother to baby or fetus. Vertical transmission is also known as congenital infection. This infection is obtained from the mother and then passed on to the child both through the placenta and during the birth process. The types of infections belonging to this type are abbreviated to TORCH (Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes Simplex Virus). Although some experts consider this abbreviation outdated because of the increasing number of types of infections included in the "other" category (such as syphilis, hepatitis B, HIV, etc.), this abbreviation is still used because it makes it easy to remember the pathogens that cause the disease.
Toxoplasmosis
This disease occurs when the parasite (which is called T.gondii) enter the body by mouth. These parasites can be found in cat feces, perfectly cooked meat, raw eggs, contaminated water or soil surfaces, and well-pasted unpasteurized milk. Parasites will be contagious for a certain period of time, can even last up to 18 hours in wet or damp soil layers. If infected in the first trimester, it usually causes fetal death. In the second trimester can cause hydrocephalus and intracranial calcification. Children infected in the third trimester usually do not show any symptoms at birth.
Other
Some examples of diseases included in this group are syphilis, hepatitis B, and HIV. Children who get syphilis infection are usually born without symptoms and will only appear at the age of 1-2 months or at the age of two years. While in hepatitis B, the younger the age of the child is infected with the hepatitis B virus, the greater the chance of suffering from chronic illness. Similar to others, HIV-infected babies also show no symptoms until their immune systems decline.
Rubella
Also known as German measles, the obvious symptom if the child is infected with this disease is the emergence of "blueberry muffins", in the form of spots, signs, or nodules on purple or blue skin. Rubella can be spread through the secretions of the respiratory tract and through the placenta. Babies affected by rubella can experience abnormalities in the heart's work, vision problems, and obstructed growth and development.
Cytomegalovirus
Classified as part of the herpes virus, transmission can occur through the placenta, through the birth canal and through breast milk or direct contact with other body fluids (such as urine or saliva). CMV can cause hearing loss, epilepsy, and decreased intellectual ability if it infects a developing fetus.
Herpes Simplex Virus
This virus is usually transmitted from mother to baby through the birth canal. But it does not rule out the possibility of the baby being infected while still in the womb. Infection can cause damage to the brain to respiratory problems. These symptoms usually appear two weeks after the baby is born.
Hereditary disease due to genetic disorders
Just like facial characteristics, height, and blood type, disease can also be inherited through genetics. But unlike an infectious disease that can show symptoms in children after a few weeks or several years, a disease caused by this genetic disorder is usually not detected until the disease appears.
Genes are part of DNA, which serves to instruct the body to work like how to produce proteins needed by the body, when to destroy damaged cells, to maintain cell balance. Genes control hair color, eyes, height, and affect how likely you are to develop certain diseases in the future.
Abnormal changes in genes are called mutations, there are two types of mutations, namely mutations that are derived and mutations obtained. Reduced mutations occur when abnormalities occur in sperm cells or egg cells which will later form a baby. Various types of diseases (such as cancer) can be reduced through this mutation. The example is:
- HBOC (Hereditary Breast and Ovarian Cancer syndrome) in which cases of breast cancer and ovarian cancer can occur at the same time.
- HNPCC (Hereditary Non-Polyposis Colorectal Cancer) in which sufferers are at high risk of developing colorectal cancer before the age of 50 years, endometrial cancer, stomach cancer, small bowel cancer, and pancreatic cancer.
- Li-Fraumeni syndrome: this is a rare syndrome in which sufferers can develop various types of cancer at one time. This is probably caused by the mutation of genes that regulate and inhibit abnormal cell growth which can later develop into tumors and cancer.
Symptoms and signs of cancer due to heredity
Some possible features of cancer caused by heredity or gene mutations are:
- The type of cancer that occurs is usually rare cancer.
- Cancer appears at a younger age when compared to the average age, for example, like colon cancer that appears at the age of 20 years where the average age of colon cancer patients is 50 years old.
- There is more than one cancer in one person (for example women who suffer from breast cancer and ovarian cancer together).
- Cancer appears in both organs in pairs (eg breast cancer that appears in both breasts, eye cancer in both eyes, or kidney cancer in both kidneys).
- The appearance of cancer is the same to you (for example, sister who both suffer from sarcoma cancer).
- Cancer appears in the gender who usually do not have cancer (such as breast cancer in men).
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