Newborn Screening

Newborn Screening

Neonatal screening, known as the heel prick, enables early diagnosis of the disease, prevents and mitigates the severity of the salt-wasting crisis, which can be fatal or leave important physical and mental sequelae.

In addition, screening has the benefit of rapid diagnosis of the classic form, both salt-wasting and simple virilizing, which allows immediate correction of social sex registration errors in girls with significant genital virilization and the institution of hormone replacement therapy preventing the evolution to precocious puberty and impaired final growth in both sexes.

The heel prick test measures a pre-hormone, 17-OH progesterone from newborns

it should be done between the second and fifth day after the baby is born. Are

the increased 17-OH values ​​that indicate the possibility of CAH,

and from then on confirm or not the diagnosis.

Normal 17OHP: Further investigations for CAH - healthy baby unnecessary.

17OHP slightly elevated: Repeat dosing of 17 OH in a new test of

tootsy. There may be interference from confounding factors such as

low weight, prematurity and neonatal hospitalization, which temporarily increase

17 OHP levels.

 

17OHP very high: Emergency call for confirmatory testing by collecting blood and dosing other hormones to confirm CAH, in addition to physical assessment to observe weight gain and genital changes. Salt-losing babies do not gain weight properly and this, together with genital assessment, is the most important clinical finding for salt loss.

In some cases of prematurity, the use of corticosteroids during pregnancy to mature the lungs of premature babies can generate false negative results of CAH, therefore the need to repeat the test of the little foot at 15 days of life.

After confirmation of the presence of CAH, the patient should receive multidisciplinary care with a pediatrician, endocrinologist or pediatric endocrinologist, pediatric surgeon to perform other tests that classify the type of the disease and immediately start the drug treatment of these babies, confirm breeding sex and send correction. surgical procedure at the most appropriate time. Psychological monitoring of the child and family is also recommended.

Types of tests and exams performed

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