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Planning a pregnancy


Genetic counseling - Genetic counseling is provided by a team of physicians and/or genetic counselors in genetic institutes in hospitals or health organizations. Its purpose is to identify genetic diseases and congenital defects and, in families with affected members...

What can be done before the pregnancy to reduce risk for fetal anomalies? - Recommendations for investigation and treatment prior to pregnancy for reducing risks of defects or genetic diseases Determination of the mother's immune status for a number of viruses or bacteria that may cause defects if she is infected...

Family history which increase risks

Down syndrome in the family - What information is important for you to know if you are pregnant? Regarding a family member with Down syndrome, it is important to ascertain the following details...

Consanguinity - What exactly is the information you need to find out? If you and your husband/wife are related, it is important that you find out exactly what the relationship is between you and whether there are any diseases or developmental problems...

Advanced maternal age - What effect does the mother's age have? Any woman aged 35 or over at the date of her last period is at an increased risk for having a child with numerical chromosome disorders. The most common disorder is Down syndrome (trisomy 21)...

Advanced paternal age - There are reports in the medical literature that a high frequency of genetic diseases of non-hereditary origin is associated with a relatively high paternal age (45 or over). These diseases occur as a result of fresh (new) mutations that arise gene...

Screening tests for detection of carriers:

In families with patients with known genetic disease. - What is genetic counseling and what does it deal with? Genetic counseling is provided by a team of physicians and/or genetic counselors in genetic institutes in hospitals or health organizations. Its purpose is to identify genetic diseases...

In the general population:

Tay Sachs - Tay Sachs disease is a metabolic disorder transmitted by autosomal recessive inheritance that causes the destruction of the infant's nervous system. The infant appears completely healthy at birth and develops normally until about six months of age...

Thalassemia - There are two main types of thalassemia: Alpha thalassemia - this is rare in Caucasians. It is common in people from the Far East. Beta thalassemia - this is covered below. There are two types...

Cystic Fibrosis - The classical type of cystic fibrosis (CF) manifests mainly as a disorder in the functioning of certain body organs, particularly the lungs and pancreas, resulting in progressive failure of these organs. Recently, with the discovery of the gene for CF..

Fragile X - Fragile X syndrome causes mental retardation, and is the second most common cause of hereditary mental retardation after Down syndrome. The disease has this name because a break occurs in the lower part of the X chromosome in cytogenetic testing...

Canavan disease - This is a severe degenerative disease of the brain that is caused by the accumulation of an abnormal substance called acetylaspartic acid.The disease begins to manifest 2-4 months after birth, and the first signs are muscle flaccidity and convulsions...

Familial dysautonomia - Familial dysautonomia is a severe hereditary disease that mainly affects the functioning of the autonomic nervous system, which is responsible for the regulation of heat, blood pressure, pulse, response to pain, tear secretion etc...

Introduction to cystic fibrosis, Gaucher disease, Canavan disease, Familial dysautonomia, Bloom syndrome and Fanconi anemia. - There is no clinical connection between these diseases, but they are all transmitted in the same manner: by autosomal recessive inheritance. In this inheritance pattern, an affected infant will only be born if both his parents carry the gene...

Gaucher disease - This is a disease in which a substance, a glucocerebroside, accumulates mainly in the spleen and bones. The glucocerebroside accumulates because of the deficiency of an enzyme called beta glucosidase, which is responsible for its metabolism...

Alpha-1 antitrypsin deficiency - Alpha-1-antitrypsin is a protease inhibitor, deficiency of which is associated with emphysema and liver disease. In most cases the disease is not severe and only rarely leads to liver failure...

Ataxia telangiectasia - Ataxia-telangiectasia (AT) is a hereditary disease that mainly affects the system that corrects spontaneously occurring chromosomal breakage, and as a result DNA damage, in the cells of the body. Clinically it is characterized by cerebellar ataxia...

Glycogen storage disease - This is the general name given to a group of inborn errors of metabolism that are characterized by the accumulation of a poly-glucose molecule called glycogen. Usually glycogen is synthesized and stored in the human body...

Severe combined immune deficiency - Severe combined immune deficiency is the name given to a group of hereditary diseases that mainly affect the immune system. In this group of diseases there is a lack of 2 major types of immune response cells...

 

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