Neonatal Health: Screening & Prevention

Some prenatal tests, such as blood tests, urine tests and blood pressure checks are routine—meaning all pregnant women get them. Others, such as amniocentesis, are not offered routinely, but only if you or your baby is at increased risk of certain problems or conditions. Your health care provider may also offer you a screening test for cystic fibrosis (CF), an inherited disease that can severely affect breathing and digestion. There is no cure for cystic fibrosis. A child who inherits an abnormal gene from each parent will have the disease. The American College of Obstetricians and Gynecologists (ACOG) recommends that a CF screening test be offered to all couples who are planning a pregnancy or are pregnant. Whether or not you take this test is a personal decision. Genetic counseling may help you to make your decision.

Newborn screening, often referred to as the "PKU test," is a simple, inexpensive blood test performed on babies in the first 48 hours after birth to look for serious and often life-threatening disorders.
Standard newborn screening consists of a small sample of blood being taken from your baby before being discharged from the hospital. The heel used to be the most common place to take the sample, so it is often called a "heel stick," but the blood may also be drawn from the inside of the elbow. The blood should be taken around 48 hours after birth. Some tests, such as the one for PKU, may not give accurate results if it is performed too early. Because many babies are discharged early from the hospital, some babies are tested within the first 24 hours and then must be retested 1 to 2 weeks later.
Newborn screening tests for disorders that can cause mental retardation, severe illness, and premature death if not detected at birth. For example, hypothyroidism is the most common disorder identified by routine screening, affecting 1 baby in 3,000. Congenital hypothyroidism is a thyroid hormone deficiency that retards growth and brain development; but if it is detected in time, the baby can be treated with oral doses of thyroid hormone to permit normal development.

Expanded newborn screening (ENBS) is available through private companies and laboratories for an additional charge and uses Tandem Mass Spectrometry (MS/MS) to test for up to 40 rare disorders. ENBS is expensive and most states don't have the highly-trained experts required to run the very specialized screenings and then effectively and accurately interpret the results; therefore, it is not available in all areas. In addition, there are no cures or known treatments for many of the disorders for which ENBS screens. However, you can request ENBS if you feel you are at a higher risk for a disorder.

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