Some expectant mothers want to know before birth if their baby is normal. Some pregnant women do not want to be tested during pregnancy because they will not allow termination of pregnancy even if there is an abnormality in infants. As physicians, we may ask for detailed genetic tests to identify babies who will need treatment immediately after birth. For example, in the case of a diaphragm hernia in which the bowels are in the chest cavity, it is necessary to know the problem in advance to ensure the possibility of immediate surgery of the baby during childbirth.
But genetic examination is expensive. Genetic disorders are so rare that it is not economically possible to examine each pregnant woman. Relatively cheap screening tests have been developed to scan all pregnant women. Unfortunately, they are not reliant. For example, 50% of genetic abnormalities are omitted by routine ultrasonography (Large abnormalities are much less likely to be omitted. Skipped abnormalities are usually small or difficult to recognize, fortunately very rare, in cases of disease.
Genetic Research Methods
- Examination of the mother and father candidate: Families with a high likelihood of genetic disease in the family are examined by clinical geneticists, and chromosome maps of the mother and father candidate are removed if necessary. Genetic disease is detected and the rates of this transition to children, if any, prenatal diagnosis possibilities are discussed. The advanced age of mother and even father increases the likelihood of genetic diseases in infants.
- Ultrasonography: Many major diseases can be recognized by ultrasonography before the baby is 14 weeks old. If there’s a vital problem, it’s the good week to get a miscarriage this week. Amniosynthesis is performed in suspicious cases.
- Triple testing: This is a test of the level of three hormones in mother’s blood called alpha-ptoprotein, b-hCG and estriol, comparing it to hormone values in thousands of women through the computer. In infants, the development of the brain-nervous system in particular, Down syndrome (3 units instead of chromosome 2 11), trisomi 18 (one more chromosome chromosome number 18) is determined. If the risk is high, more detailed analyses (e.g. amniosynthesis) may be required. It should be noted that this test should only be used to make risk predictions. He can’t be diagnosed.
- Coriosynthesis: A small piece is taken from the baby’s placenta (wife) with the help of a needle. The tissues of the fetus are separated and genetic research is done using these tissues. The chromosome map can be done immediately in 3-4 hours. One advantage is that when pregnancy is 10 weeks old, genetic diagnosis can be diagnosed early.
- Amniosynthesis: Some of the fluid in which the baby is located is taken up to 15-20 ml. It is usually processed between 12-20 weeks. The disadvantage is that the cells in the taken fluid should be produced in the laboratory, so it takes a long time (7-15 days).
- Cordosynthesis: This method is used in later stages of pregnancy (after 20 hf). It can be diagnosed with some blood diseases, especially by examining the cord of the belly and sometimes the blood sample taken directly from the body. It is also a technique used to prevent infant mortality due to blood mismatch.
- Fetal leukocytes in the mother’s blood: In general, the placenta (spouse) prevents the blood of the mother and baby from mixing. However, some blood cells belonging to the baby go into the mother’s circulation. These cells live long in the mother’s blood. Even years after the child is born, it is found in the mother’s blood. These cells can be separated and solved some very sensitive methods (PCR), some genetic problems. For example, gender determination may be possible very early. It is a method that does not yet have a common application area during the research phase.
- Fetscopy: An optical (such as laparoscopic instruments) such as a very thin needle is inserted directly into the uterus with a thin incision made from the womb and displayed in a pouch filled with water that the baby floats in. Photos can be taken. It can be done after week 16. It is increasingly carried out with the development of infant-risky (3-5 infant loss) and other less interventional methods.