Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

Abstract

The objective need for cystic fibrosis (CF) newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of its symptomatic diagnosis. This trend most likely resulted from the process of decentralisation of health care which led to the deterioration of care for patients who need specialised approaches. Applied newborn screening model (IRT/DNA/IRT) was efficacious enough to detect CF cases with median age at diagnosis of 37 days. The incidence of CF (1 in 6946 live births) ascertained in this project was lower than that established previously by epidemiological studies (1 in 2700-1 in 3300). However, adjustment for broadly applied ultrasound-based prenatal diagnosis (PND) in the 2nd trimester of pregnancy, that was performed within the period of the project (1/2/2005-2/11/2006), rendered an incidence estimate of 1 in 4023. This value is closer to that observed in other CF NBS programmes and reflects influence of PND on the incidence of CF.

<i>Achromobacter</i> Infection Is Rare in Japanese Patients with Pulmonary B-cell Lymphoma

“…Although not statistically significant, the prevalence rate in our series was somewhat higher in DLBCL patients (11.1%) than in MALT lymphoma patients (1.9%), possibly due to the immunocompromised status of the former patients. Cystic fibrosis is extremely rare in Asian countries, and it has been estimated that, in Japan, 1 in 350,000 newborns is diagnosed with this disease ( 31 ), while in European countries, 1 in 3,000 newborns is affected ( 32 , 33 ). This difference may partly explain the regional difference in the prevalence of A. xylosoxidans between Japanese and European patients.…”

Newborn screening for cystic fibrosis in Serbia: A pilot study

“…Some skepticism remains regarding the current rapid progress toward mass screening in several countries . Nevertheless, in its latest report, the Centers for Disease Control and Prevention published data with affirmative and undoubted benefit of newborn screening for CF …”

“…12 Nevertheless, in its latest report, the Centers for Disease Control and Prevention published data with affirmative and undoubted benefit of newborn screening for CF. 3 It was shown that protocols that had been used in different European countries varied from the sweat test after the first IRT to those involving IRT/IRT/DNA. 13 The median number of mutations analyzed was 31.…”

“…This test is still widely used in CF screening protocols. IRT concentration is high in the blood of infants with CF, presumably from leakage of the protein into the circulation after exocrine pancreatic injury …”

“…IRT concentration is high in the blood of infants with CF, presumably from leakage of the protein into the circulation after exocrine pancreatic injury. 3,4 The National Newborn Screening Program was initiated in our country in 1982, and performed by the Mother and Child Health Institute of Serbia (MCHI). At first, the screening was only performed for phenylketonuria.…”