Congenital malformations
Congenital malformations occur when there is a defect in the genes, chromosomes, child organs, or body chemistry. These abnormalities may have a minor impact on the child’s life, or have a significant impact on him or her, the nature of the life he or she will live, Which will live, and can determine whether the fetus suffers from deformities or not through certain tests called Birth Defects Tests.
Types of Congenital Disorders
Congenital malformations include:
- Genetic diseases as Down Syndrome.
- Family-transmitted diseases such as Tay-Sachs, Sickle Cell Anemia and others.
- Organic congenital problems such as heart abnormalities, and neural tube malformations.
How to detect congenital malformations
There are two types of tests for the detection of congenital malformations, which are through preliminary tests, diagnostic, and preliminary tests appear only if there is a possibility that the child will be distorted, and does not give a sure result, if the result of the analysis positive, If the result of this type of tests is negative, it means that the child often does not carry any congenital malformation, but does not guarantee that the mother has a normal pregnancy or a healthy embryo, And this The analysis shows if a child has a particular congenital defect.
The initial tests of congenital malformations are performed through blood tests, ultrasounds, and blood tests are used to determine the amount of a particular substance in the mother’s blood, and ultrasound is used to see certain changes in the fetus. Diagnostic tests include taking cells from the fetus to examine genes and chromosomes.
It can also give a negative result even when the child has a congenital defect. This is called a false negative result. The analysis can also give a false positive result. The result of the analysis is abnormal, but the child is naturally born. , And there are some tests that can be conducted only during the first trimester of pregnancy, and another can take place during the second trimester of pregnancy, and also can be done a combination analysis, that is to be integrated analyzes conducted in the first trimester with analyzes conducted in the third third J to reach a more accurate result.
Parents can choose if they want to do the tests. For example, these tests may help them to get help from specialists in how to care for a child if he has a malformation, or to see if they want to keep him if there is a serious problem, They may choose not to undergo these tests so that the mother will continue to carry normally.