What is Genetics?
The human body is made up of cells, each containing a nucleus with structures vital for healthy development and functioning. These structures, known as chromosomes and genes, collectively form our "genetic structure." Diseases resulting from changes in these structures are referred to as "genetic diseases."
What do Genetic Diseases include?
Genetic diseases can be categorized under three main headings:
- Chromosomal Diseases: These occur due to a deficiency or excess in the number or structure of chromosomes, which are typically 46 in humans.
- Single Gene Diseases: These arise from mutations in the genetic structures known as genes.
- Multifactorial Diseases: These diseases result from a combination of genetic factors and environmental influences. Examples include cardiovascular diseases, hypertension, obesity, diabetes, and cancer.
At what stages are genetic tests applied?
Genetic diseases can be identified through genetic tests performed after birth and as early as the 3rd to 4th week of pregnancy. These tests can detect significant abnormalities in a baby, potentially leading to pregnancy termination. Recent advancements also enable genetic examinations on embryos developed through in vitro fertilization methods.
Who is at risk genetically during pregnancy?
Certain factors increase the genetic risk during pregnancy:
- Advanced maternal age (35 years and older).
- High-risk findings in the triple test.
- A history of children with chromosomal anomalies.
- A history of children with multiple anomalies.
- Detection of abnormalities in the baby during prenatal ultrasound.
- One of the partners having a numerical or structural chromosome disorder.
