All new parents should be aware of the importance of the newborn screening test—a simple, routine way to protect your child from potentially life-threatening illness. This blood test can detect diseases that would otherwise not be apparent—in time for them to be treated.

To understand the newborn screening test, it’s important to look at its history. The test was initially developed to prevent mental retardation by promptly treating a rare disease called phenylketonuria (PKU).

In 1934, Dr. Asbjorn Folling first recognized PKU—a defect or deficiency in the enzyme that processes phenylalanine. Without an effective enzyme, the buildup of phenylalanine damages the developing nervous system—causing mental retardation and seizures. Doctors could treat infants with this disease by limiting their intake of phenylalanine, a substance found in proteins such as standard infant formula and breast milk. The problem was that the infants were healthy at birth and had no signs of the disease, so doctors and parents didn’t know which children to treat with this restricted diet. Dr. Robert Guthrie solved this problem by developing a simple test, using a drop of blood on filter paper, to test newborns for this disease. This was the birth of the newborn screening test.

The newborn screening test has expanded significantly, but it still follows the same principle and is conducted similarly. Newborn screens vary by state. In California, blood samples are tested for the following diseases:

• Metabolic diseases (including PKU) that makes the body unable to use certain parts of food for energy, growth or repair
• Endocrine diseases that cause the body to make too much or too little of a hormone, which can affect growth and development
• Hemoglobin diseases, which cause anemia by affecting the type or amount of hemoglobin in the red blood cells
• Cystic fibrosis, a common chronic lung disease in children

As medicine and genetic research advances, we’re able to identify more genetic diseases. As new tests become available, each new test must undergo a rigorous ethical discussion in order to be included in the newborn screen. The Institute of Medicine (IOM) has suggested three key principles for inclusion in newborn screening:

1. Identification of the condition must provide a clear benefit to the child.
2. A system must be in place to confirm the diagnosis.
3. Treatment and follow up must be available for affected newborns.

For example, early identification of PKU can result in effective treatment and prevent mental retardation, clearly providing a benefit to the child. A test can confirm PKU and specialty care does exist.

On the other hand, we have a test for Huntington’s disease, but we have no effective treatment to alter the course of the disease. Therefore, choosing whether or not to test for Huntington’s disease is complex and made on an individual basis considering the potential psychological responses, the possibility for stigma or discrimination, and balancing this against the reduction of uncertainty in knowing whether one carries the gene. For these reasons Huntington’s disease does not meet the IOM standards and is not included on the newborn screening test.

Each state’s newborn screening program periodically reviews screening recommendations as new testing and new treatments become available. At that time these programs consider new additions and the possibility of eliminating certain tests.

To do a newborn screening test, a health care professional simply collects a few drops of blood from a baby’s heel and sends this sample to the newborn screening lab. Parents are notified if a child needs further evaluation, but it’s important to remember that requiring further screening doesn’t necessarily mean that a child has a disease or is sick.

All parents should be aware of the newborn screening test—a simple blood test that can save a child’s life.

— By Natasha Leman, M.D.

How many colors did you eat today? March was National Nutrition Month, and the American Dietetic Association introduced the theme “Eat Right with Color.” Colorful foods are loaded with “phytonutrients,” or plant substances that can protect us against cancer, heart disease and other unhealthy effects of aging. The brighter and more intense the colors, the stronger the phytonutrients are in foods. Each color group provides us with different, important nutrients.

We’re fortunate to live in the Bay Area, where it’s easy to get a variety of fresh, colorful produce all year round. Fruits and vegetables that grow locally are usually picked ripe, and they have more color because they don’t have to be shipped long distances. I get my rainbow of produce by shopping at a farmers’ market and subscribing to Community Supported Agriculture (CSA). CSA enables you to purchase seasonal produce grown at a local farm. Visit www.localharvest.org for more information.

People who eat more fruits and vegetables as part of a healthy diet are likely to have a reduced risk of chronic diseases, including stroke, type 2 diabetes, some types of cancer, heart disease and high blood pressure.

Here’s a sampling of what colorful foods that you can find in the local market today:

• Go green: Green fruits and vegetables are colored by a natural plant pigment called “chlorophyll,” which contains nutrients “lutein” and “zeaxanthin” believed to help keep your eyes healthy and reduce risk of cataracts and age-related eyesight degeneration. “Indoles,” chemicals found in the cabbage family, may help protect against some types of cancer. Some good green options are Romanesco cauliflower, bok choy, Brussels sprouts, asparagus, dinosaur kale, collards, rapini, kiwis and avocados.
• Red rules: Red fruits and vegetables are colored by natural plant pigments called “lycopene” or “anthocyanins.” Lycopene may reduce your risk of several types of cancer, especially prostate cancer, and it may slow the development of atherosclerosis. Anthocyanins can act as powerful antioxidants that protect cells from damage and help keep our hearts healthy, too. Try painting your plate red with strawberries, blood oranges, ruby grapefruit, guavas and beets this week.
• Bright news about orange and yellow: Orange and yellow fruits and vegetables are usually colored by natural plant pigments called “carotenoids.” Beta-carotene, a well-known carotenoid, is converted to vitamin A, which can help maintain healthy mucous membranes and healthy eyes. Carotenoid-rich foods may help reduce the risk of cancer and heart disease, and benefit your immune system. Some orange and yellow citrus fruits are high in vitamin C, another powerful antioxidant that may reduce the risk of cancers and heart disease. Add a splash of orange and yellow to your diet with carrots, winter squash, oranges, tangerines, and Meyer lemons.
• White earns its colors: White fruits and vegetables are colored by pigments called “anthoxanthins,” which may help lower cholesterol and blood pressure and reduce the risk of stomach cancer and heart disease. Some white fruits and veggies are good sources of the mineral potassium, too. A few good white choices are parsnips, potatoes, onions, green garlic, crimini mushrooms and pears.
• Try true blue (and purple): Blue and purple fruits and vegetables are colored by natural plant pigments called “anthocyanins,” which may act as powerful antioxidants that protect cells from damage. They can help reduce the risk of cancer, stroke and heart disease, and have been associated with boosted memory function and healthy aging. Try adding more blue and purple to your plate with red cabbage, radicchio, purple cauliflower and purple potatoes.

When it comes to the produce you put on your plate, go local and diverse with an emphasis on colorful intensity. I hope you’ll use these tips to improve your diet and reap the health rewards offered by colorful fruits and vegetables.

— Darcie Ellyne, M.S., R.D., CDE

— The Palo Alto Medical Foundation and column editor Arian Dasmalchi provide this monthly column.