A positive newborn screen means a baby needs further assessment. It does not, by itself, establish a diagnosis. CAH screening is time-sensitive: California’s newborn screening program directs clinicians to consult a specialist the same day. Follow the care team’s instructions promptly, even if your baby looks well.

CAH is a group of inherited conditions affecting the adrenal glands, which sit above the kidneys. In the most common form, a change in an enzyme called 21-hydroxylase can limit cortisol production and sometimes aldosterone production, while increasing androgen production. The effects vary by the form of CAH.

The initial screen commonly measures 17-hydroxyprogesterone, usually shortened to 17-OHP. Gestational age and the laboratory method matter when interpreting the result. Premature babies can have raised screening values without CAH, and some methods produce false positives. That possibility needs to be assessed alongside the examination and follow-up tests; it is not a reason to dismiss an abnormal screen.

A pediatric endocrinologist—a doctor specializing in children’s hormones—helps decide what comes next. Depending on the situation, evaluation may include additional hormone measurements and sometimes a stimulation test or genetic testing. There is no single internet cutoff that can interpret every screening result correctly.

Ask for a copy of the original report. Keep the collection date, value, units, laboratory cutoff, and specimen type together. A blood-spot screening result and a later serum result are different records, so ask the team how they should be compared. Also record which tests were collected before treatment.

In California, the birth facility is usually the quickest place to request the screening report. The state also provides instructions for parents to request records directly. Having the report can make conversations clearer, but obtaining a copy should not delay follow-up.

For the next conversation, try three questions: What does this result make you concerned about? What will help clarify the diagnosis? What should we do today? You can ask the team to write down the plan and explain when the next update is expected.