Newborn Genetic Diseases

Genetics is the inheritance of mutated genes through DNA. Gene mutations occur when the DNA has an everlasting transformation of its arrangement. Genetic mutations can be transferred through family history and ethnicity. Genetic disorders are classified into three categories, which include single gene disorders, chromosome abnormalities, and multifactorial disorders. Genetic diseases can occur at the time of conception.

Single Gene Disorders

• A single gene disorder is an alteration in only one gene. There are many different diseases that occur as a result of single gene disorders, but most of them are atypical. A single gene disorder can be dominant, or recessive. Dominant is where only one single mutated gene is needed to be present in order for it to be passed from the parent to the child. In this case, there is at least a 50 percent likelihood that the baby will develop a disease from it especially of the parent also has the disease r disorder. The diseases that can occur from the single dominant mutated gene are, achondroplasia (dwarfism), Huntington's disease, and polycystic kidney disease. Single recessive gene disorders must have two mutated genes. Both parents are the carriers of these genes resulting in a 25 percent chance of passing it to the baby. Examples of recessive diseases include Tay Sachs Disease (when the central nervous system starts to deteriorate), cystic fibrosis (gland disorder), and sickle cell disease (aberrant red blood cells). Single gene disorders can also be x-linked. There are not many disorders that are related to this prototype. In order to be x-linked, there must be a mutated gene located on the X chromosome. These genetic disorders include Rett Syndrome (autistic like but with other abnormalities), hemophilia (bleeding disorder), and a form of muscular dystrophy.

Chromosome Abnormalities

• A chromosome abnormality occurs when the entire chromosome, or even a large section of it has been copied, changed, or it has literally disappeared. There are two different abnormalities that can occur such as numerical and structural. Numerical abnormalities result from either the disappearance of a chromosome from a pair, or having one too many chromosomes in a pair. Structural abnormalities result from a chromosome being deleted, transformed, duplicated, inverted or formed into a ring. Chromosome abnormalities may or may not be hereditary. A few of the diseases that can occur from these abnormalities are Down Syndrome and Turner's Syndrome

Multifactorial Disorders

• Multifactorial disorders can occur as a result of family history, and the effects of the environment. It is not easy to predict that a mulifactorial disorder will occur in a baby. The chromosomes are in clusters instead of having a solid pattern, which makes it hard to conclude whether or not a child will receive these disorders, or diseases. Most multifactorial diseases have a tendency to be hereditary, but that does not make them easier to treat or study. Some diseases include heart disease, cleft lip, and diabetes.

Tests

• There is DNA testing that is available that can tell you before, during, and after pregnancy whether or not you are a carrier of a defective gene. These tests can also show whether or not your baby will inherit a genetic disease or disorder before birth, or later in life.

Teratogenic

• Teratogenic is strictly related to environment. Teratogenic problems occur as a result of taking medications that are known to cause defects, exposure to lead paint, use of drugs, drinking, and being exposed to radiation during medical procedures. This is a situation that can be completely avoided. Never take medications unless your doctor prescribes them, and they are safe for the baby. Remember that what you are exposed to, so is your baby.