Preimplantation Genetic Diagnosis

Genetic diagnosis is the process of identifying diseases or health conditions that can be passed genetically from parents to fetuses. This is done by examining genes and genetic analysis to check for any genetic changes or defects in the DNA of the fetus.

This is done by performing a fertilization process outside the body, and then examining the genetic embryo and returning it to the uterus again without the genetically  examined diseases. During this pregnancy, a new prenatal examination is recommended: placental villi or amniotic fluid, to make sure that the fetus is free from the disease being examined.

What Techniques are Used in Genetic Diagnosis?

There are several techniques used to screen fetuses for genetic diseases. one of the importants:

1. DNA test: This test aims to analyze the DNA sequence of the fetus to check for any genetic changes or defects.
2. Genetic testing: This type of test is used to determine the presence of genes responsible for a particular genetic condition.
3. Chromosome testing: This test aims to analyze the number and arrangement of genetic chromosomes to check for any genetic changes in the fetus.
4. RNA testing: This type of test is used to determine gene expression and how genes are turned on.
5. Gene sequencing techniques: These techniques are used to determine the order of the DNA of genes and analyze them accurately to determine the presence of any genetic changes.

The technique that is used to examine the fetus for genetic diseases depends on the state of health and the purpose of the examination. Doctors must determine the tests needed to determine an accurate diagnosis and appropriate treatment.

What Health Conditions is Genetic Diagnosis Most Commonly Used For?

Genetic techniques are used to diagnose and detect many health conditions, including:

1. Known genetic diseases such as: Down syndrome, thalassemia and cystina.
2. Genetic diseases that are passed down through generations, such as: hemophilia and familial enteritis.
3. Genetic cancer diseases such as: breast cancer and colon cancer.
4. Autoimmune diseases such as: lupus erythematosus and rheumatoid arthritis.
5. Skin genetic diseases such as: psoriasis and eczema.
6. Hereditary eye diseases such as: night blindness and ocular abnormalities.
7. Genetic diseases associated with the nervous system, such as autism and Alzheimer’s disease.

Genetic diagnosis is used to identify potential risks, and therefore the most effective treatment.

Can genetic Diagnosis Determine The Most Effective Treatment For Genetic Diseases?

Yes, genetic diagnosis can help determine the most effective treatment for genetic diseases. When we identify the genetic changes responsible for a particular condition, the appropriate treatment that targets these changes can be determined.

Examples include: Some new drugs target genes responsible for genetic diseases, and genetic diagnosis can be used to determine whether a patient suffers from these genetic changes and can benefit from these drugs or not.

There are also therapeutic technologies that we talked about earlier, which target genes responsible for genetic diseases, and are used to modify defective genes, or add a healthy copy of the gene to help treat the specific health condition that the fetus suffers from.

It is worth noting that the use of genetic screening of embryos to find out the most effective treatment is still in its infancy, and requires a lot of research and clinical trials before it can be widely applied in medical practice.

What is The Cost of a Fetal Examination?

The price of fetal examination varies depending on the type of examination and health status, and costs vary widely between different countries and medical facilities.

Prof. Dr. Mahmoud Jihad, a consultant in gynecology, obstetrics, ICSI and IVF, is keen to provide genetic diagnosis at a competitive cost, which you will not find in Riyadh.

You can contact us now to schedule an appointment with Dr.