Newborn Screenings: Early Diagnosis of CF and Other Health Issues

Newborn screenings can be a vital step in ensuring one’s future health. There are several health screenings administered to newborn babies that could potentially identify their susceptibility to specific illnesses.

Common Newborn Screenings

Specific screening tests might vary depending on the state in which the infant was born.

However, in many instances, newborn children will undergo screenings for ailments including the following:

• Thyroid Function – Certain infants are born with congenital thyroid deficiency (hypothyroidism). The thyroid hormone (thyroxine) is crucial to a child’s growth and the development of many bodily systems. Should this condition be discovered early on, thyroxine can be administered to the newborn in question to correct the deficiency before any systemic issues arise.
• Sickle Cell Disease – This inherited ailment affects the body’s red blood cells. Individuals with sickle cell disease do not synthesize the blood protein hemoglobin correctly, which causes red blood cells to form improperly. The malformation inhibits the ability of these structures to circulate throughout the blood stream, causing manifestations like bleeding, pain, organ damage and susceptibility to infections. Identifying this disease enables doctors to closely monitor the patient and be better prepared to handle associated complications.
• Phenylketonuria – This ailment, PKU, is a metabolic disorder that prevents the body from digesting and synthesizing a substance called phenylalanine. This chemical is an amino acid vital to a young person’s ability to grow properly and develop normal cognitive functions. Should excessive quantities of phenylalanine accumulate inside the body, the condition could precipitate brain tissue damage that might result in developmental disabilities.
  • When this issue is detected immediately, the newborn can be fed formula that contains low levels of phenylalanine. Additionally, individuals diagnosed with PKU must adhere to low-protein diets for the duration of their lives and often must take dietary supplements containing protein substitutes.
• Anemia – Individuals with this disease lack an adequate systemic concentration of red blood cells. Red blood cells play a vital role in ensuring the body receives a sufficient supply of oxygen. Should this condition be detected in newborns, doctors can execute immediate therapeutic regimens.
• Hearing and Vision – Impaired hearing and vision in a newborn will not only impact future development but could potentially indicate the presence of a serious underlying illness. Hearing and vision tests are typically initiated anywhere from a few days to a few weeks after birth and continued well throughout childhood.
• Congenital Adrenal Hyperplasia – Also referred to as CAH, this malady describes various ailments affecting the adrenal gland’s ability to produce hormones. The hormonal imbalances could lead to growth and developmental issues. However, in severe cases, adrenal irregularities could precipitate a systemic inability to metabolize salts, which could lead to serious illness and possibly death. Newborns diagnosed with this condition will require hormonal treatments over the course of their lifetime.
• Cystic Fibrosis – This congenital disease, CF, causes the body to produce excess quantities of improperly formed mucus. CF most directly affects the lungs and could result in an increased amount of upper respiratory infections, breathing difficulties and, in some cases, premature death. Identifying CG in a child’s infancy gives medical professionals a better chance of managing associated symptoms before they can result in potential complications.

Other Considerations

The preceding ailments are only a few of the congenital ailments infants might be born with. Many medical institutions will perform diagnostic tests for numerous other ailments. Furthermore, parents who have a history of genetic or inherited illnesses or are carriers of these disorders are strongly encouraged to request that their newborns be examined for such issues.