2010Laboratory MedicineRequires access

The primary report on neonatal screening for congenital adrenal hyperplasia

Jin Yao

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Abstract

Objective To develop the neonatal screening for congenital adrenal hyperplasia(CAH)in order to prevent children from congenital disability and improve the aristogenesis in our country.Methods 17-hydroxyprogesterone(17-OHP) of blood samples was measured by time-resolved fluorescence immunoassay in neonates.Results 93 971 neonates were screened.Five were confirmed as having CAH and the incidence was 1∶18 795.98.7% of 17-OHP level was lower than 40 nmol/L.Conclusions CAH can be diagnosed and prevented by CAH neonatal screening in neonates which is worth to be extended.It is feasible for the 17-OHP positive cut-off to be 40 nmol/L.

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What this paper is about

Objective To develop the neonatal screening for congenital adrenal hyperplasia(CAH)in order to prevent children from congenital disability and improve the aristogenesis in our country.Methods 17-hydroxyprogesterone(17-OHP) of blood samples was measured by time-resolved fluorescence immunoassay in neonates.Results 93 971 neonates were screened.Five were confirmed as having CAH and the incidence was 1∶18 795.98.7% of 17-OHP level was lower than 40 nmol/L.Conclusions CAH can be diagnosed and prevented by CAH neonatal screening in neonates which is worth to be extended.It is feasible for the 17-OHP positive cut-off to be 40 nmol/L.

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Available abstract

Objective To develop the neonatal screening for congenital adrenal hyperplasia(CAH)in order to prevent children from congenital disability and improve the aristogenesis in our country.Methods 17-hydroxyprogesterone(17-OHP) of blood samples was measured by time-resolved fluorescence immunoassay in neonates.Results 93 971 neonates were screened.Five were confirmed as having CAH and the incidence was 1∶18 795.98.7% of 17-OHP level was lower than 40 nmol/L.Conclusions CAH can be diagnosed and prevented by CAH neonatal screening in neonates which is worth to be extended.It is feasible for the 17-OHP positive cut-off to be 40 nmol/L.

Key concepts: Congenital adrenal hyperplasia, Medicine, Hydroxyprogesterone, Pediatrics, Newborn screening, Incidence (geometry), Hyperplasia, Dried blood

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