Newborns Infant Disorders

Many common diseases have a genetic nature. This means that the disease is inherited via a genetic mutation. Oftentimes, individuals carry genetic mutations without developing the disease; however, some genetic diseases inevitably develop over time. Some well-known genetic diseases and conditions include:

  • congenital abnormalities
  • muscular dystrophy
  • sickle cell anemia.

Genetic testing can identify potential diseases in a fetus or newborn. Relatively simple tests can provide information on a person’s chances of getting a disease. A mother can have her blood screened to find out if her baby has a high risk of developing a disease.

Prenatal (or newborn) diagnostic tests use a baby’s cells to diagnose mutations in the baby’s DNA. In unborn children, fetal cells are obtained by amniocentesis or chorionic villus sampling (CVS). For this procedure, a doctor will use a needle to withdraw amniotic fluid; this can determine the baby’s gender as well as many birth defects and diseases. In newborns, babies have a few drops of blood taken from their heel. This test alone can detect 29 different genetic defects. Newborn diagnostic tests help doctors detect serious congenital disorders before disability or death occurs. Early diagnosis and treatment can make an enormous difference in a child’s quality of life.

Muscular Dystrophy

Muscular dystrophy includes several genetic diseases that cause progressive muscle weakening. There are nine different diseases that are classified as muscular dystrophy. These are X-linked recessive diseases, meaning that the mother usually contributes the mutation. Two-thirds of male cases are inherited from their mother; one-third are new mutations in the gene.

Men only need one copy to be affected and are more likely to develop the disease. Females need two copies to have severe symptoms. Those with one copy usually have milder symptoms.

Prospects for those diagnosed with muscular dystrophy depend on the type and progression of the disease. Some people have a milder case, and the disorder progresses slowly over the course of their lives. Others suffer from severe muscle wasting and loss of the ability to walk.

There is no known cure for muscular dystrophy. Inactivity can make the symptoms worse. Therapy may be helpful. Physical therapy can keep the correct muscles moving. Occupational therapy can teach the patient how to care for himself.

Congenital Abnormalities

Congenital disorders originate in the fetus. They result from genetic mutations, the environment in the uterus, abnormalities in the growth of the fetus or chromosomal mutations. Congenital anomalies include several types of abnormalities:

  • Birth defects: physical anomalies that are realized when the baby is born. They are usually detrimental to a child’s health.
  • Congenital malformations: detrimental anomalies; these are physical defects present in a baby at birth.
  • Congenital metabolic diseases: inherited single gene mutations that alter some part of the metabolism.
  • Congenital physical anomalies: changes in the structure of a body part, like a third nipple or curvature in a finger.

Genetic diseases may not be realized until later in life. They might result from gene mutations or chromosomal mutations.

The prognosis for these diseases depends greatly on the type and progression of the disease. Fetal surgery or stem cells can treat some congenital diseases. A wide range of outcomes exists, depending on the disease.

Congenital cataracts are one example of a congenital abnormality. Congenital cataracts can be hereditary, but more often than not, the cause is unknown. Depending on the progression rate of this disease, treatments vary. Surgery, glasses or contact lenses might help if the cataract causes problems with vision.

Sickle Cell Anemia

Sickle cell anemia is an inherited blood disease characterized by anemia and physical pain. The hemoglobin molecules clump and hinder blood from flowing through the capillaries. Sickle cell anemia is diagnosed by a simple blood test. Early diagnosis is necessary, since treatment can give the affected person a somewhat normal life.

Sickle cell anemia is an autosomal recessive disease. People at a higher risk for sickle cell anemia include:

  • people from India
  • people from Mediterranean countries such as Turkey, Greece and Italy
  • Saudi Arabians
  • Spanish-speaking populations.

There is no cure for sickle cell anemia. Pain medication and hydration, however, can greatly alleviate symptoms. Patients can also take opioids or non-steroidal anti-inflammatory drugs to lessen pain. Blood transfusions can increase the number of red blood cells and help make the situation less life threatening in children.

Introduction of penicillin at the age of 2 months to 5 years prevents infection from pneumococcal bacteria. Hydroxyurea, an anticancer drug, can reduce painful episodes and acute chest syndrome.

Genetic testing and counseling can be invaluable tools for both new and expectant parents. Carrier testing allows parents to determine if they are carriers for a single gene disorder, such as sickle cell anemia. This testing is important for couples who have a family history with these disorders. After risk assessment, parents can understand more about their health and the health of their children.


Knox, R. (2008). Screening newborns for genetic diseases. Retrieved November 19, 2008, from the NPR Web site:

Oak Ridge National Laboratory (2005). Genetic disease profile: Sickle cell anemia. Retrieved September 21, 2008, from the Oak Ridge National Laboratory Web site:

Regents of the University of California (2008). Inherited genetic diseases treatable with stem cells. Retrieved November 19, 2008, from the University of San Francisco Web site: