Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.

Objectives: To evaluate the performance of a strategy in which, after immunoreactive trypsinogen (IRT) determination, genetic analysis is replaced by a biological test, the pancreatitis-associated protein (PAP) enzyme-linked immunosorbent assay (ELISA).

Study Design: The French newborn screening program includes cystic fibrosis (CF) screening by the IRT/CFTR mutation strategy. PAP was assayed on screening cards, in parallel with IRT, in all newborns from 5 French regions (n = 204,749).

[Sickle cell disease neonatal screening. First evaluation].

A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn aged from 1 to 4 days, and coming from all the country ethnic groups.

Maternal phenylketonuria: the French survey.

Unlabelled: We report the French experience regarding pregnancies in maternal phenylketonuria (PKU). In 2001, a questionnaire was sent to each referring PKU specialist in the 20 centres of each region of France, collecting reports on 135 pregnancies in 79 women born between 1958 and 1980. The majority of the 135 pregnancies occurred after 1990.