Genetics; It is a branch of science that examines the heredity process and inherited characteristics in living things. medical genetics; It is a science that examines genetic variability that has medical importance in humans, how genes that cause disease spread in families and throughout the society, and what kind of symptoms they cause. Thanks to the applications in this field, it is possible to detect genetic diseases, carriers and risky individuals in family members, in the society in the early period, even before birth. .
Genetic diseases:
* Single gene disorders
* Chromosome disorders
* Multifactorial inherited diseases
Surgical or medical treatment in a significant part of genetic diseases is still not possible under current conditions. For this reason, knowing the prevention measures from these diseases and applying them widely in the society is the most valid method to reduce the diseases. It is essential that they are determined and informed beforehand. Among the close relatives of the person with an inherited disease, there may be people who seem healthy but at high risk. It can be ensured that these people have healthy children by enlightening them about contraception methods and applying prenatal diagnostic tests to pregnant women who are found to be at risk.
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advanced maternal age.
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history of child with chromosomal abnormality from previous pregnancy
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carriers of balanced chromosomal abnormalities
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anomaly in fetal ultrasonography during pregnancy
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in case of non-standard detection of biochemical indicators (estriol, beta hCG, AFP) in maternal serum during pregnancy
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presence of recurrent miscarriage or stillbirth in previous pregnancies of the mother
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cleft palate lip, head deformities, congenital heart diseases, cataracts, spine and spinal cord as a result of previous pregnancy defect, arm and leg anomalies, genital anomalies
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cystic fibrosis, thalassemia, oral cell anemia in one of the other children in the family if there have been chronic diseases such as bleeding disorders, childhood cancers, kidney structure disorders, severe short stature, growth retardation
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familial muscle diseases, learning difficulties, autism, mental retardation, developmental delay If there are conditions such as epilepsy
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If there is a history of congenital severe hearing defect or retinal disorder, genetic counseling is recommended in the family.
In all these cases, chromosome analysis is performed on fetal samples obtained by invasive methods such as chorionic villus biopsy, amniocentesis and cordocentesis in the early period of pregnancy.
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* Parents who have this type of genetic disease in themselves or their spouses
* or families who are found to be carriers are families with a high risk of giving birth to a sick child. In such cases, families should be examined in detail before pregnancy, tests should be done according to the type of disease detected, and then pregnancy should be planned. muscular dystrophies, Down syndrome (trisomy 21), trisomy 18, Turner syndrome, neural tube defects (such as spina bifida) are some of the genetic diseases that can be seen in our society.
In our country, which is a Mediterranean country, There is a very high carrier rate for thalassemia. For this reason, screening tests for thalassemia before marriage and pregnancy are routinely performed today.
Consistent marriages cause rare autosomal recessive diseases to be seen more frequently !!! It is imperative that our society be informed about the risks of such marriages.
Some metabolic and endocrine diseases (such as phenylketonuria, congenital hypothyroidism, biotin deficiency) that can be treated in newborns can be detected early with congenital screening tests. Therefore, newborn screening tests should not be neglected.
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