Screening

Newborn screening

Newborn screening can prevent salt-wasting and adrenal crisis in those with classical 21-hydroxylase deficiency (21-OHD) by early detection and treatment. All 50 states in the US now include 17-hydroxyprogesterone (17-OHP) as a screening measure.

Screening became possible with the development of an assay for 17-OHP (a cortisol precursor that accumulates in elevated concentrations in 21-OHD), using a heel-stick capillary blood specimen absorbed on to filter paper.

Screening serves several important purposes:

  • Identifying the classical form of 21-hydroxylase congenital adrenal hyperplasia (CAH)

  • Determining patients at risk for life-threatening salt-wasting crises

  • Expediting the diagnosis of females with atypical genitalia.

A number of newborn screening programs have been developed in the US, Europe, and Japan. As of 2018, all 50 states in the US screen newborns for CAH.[14]​​ Cost-benefit analysis has indicated that newborn screening for classical 21-OHD is cost-effective and has been recommended by expert consensus.[14]

The neonatal screening method is highly sensitive for the salt-wasting form. The sensitivity is lower in the milder simple virilizing and nonclassical forms.[22] Samples taken in the first 24 hours of life are elevated in all infants and may give false-positive results.[23][24]​​ False-positive results may also be observed in low birth-weight, sick or premature infants.[23][25]​​ False-negative results may be observed in neonates receiving dexamethasone for management of unrelated problems, maternal steroid use, immaturity of the adrenal axis or other laboratory error.[26][27]

Newborn screening results need to be confirmed with serum 17-OHP measurements.

Use of this content is subject to our disclaimer