Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.

BACKGROUND: Norway introduced newborn screening for cystic fibrosis (CF) March 1, 2012. We present results from the first three years of the national newborn CF screening program. METHODS: Positive primary screening of immunoreactive trypsinogen (IRT) was followed by DNA testing of the Cystic fibrosis transmembrane conductance regulator (CFTR) gene. Infants with two CFTR mutations were reported for diagnostic follow-up. RESULTS: Of 181,859 infants tested, 1454 samples (0.80%) were assessed for CFTR mutations. Forty children (1:4546) had two CFTR mutations, of which only 21 (1:8660) were confirmed to have a CF diagnosis. The CFTR mutations differed from previously clinically diagnosed CF patients, and p.R117H outnumbered p.F508del as the most frequent mutation. One child with a negative IRT screening test was later clinically diagnosed with CF. CONCLUSIONS: The CF screening program identified fewer children with a conclusive CF diagnosis than expected. Our data suggest a revision of the IRT/DNA protocol.

Dietary intake and nutritional status in a Scandinavian adult cystic fibrosis-population compared with recommendations.

BACKGROUND: Malnutrition is a well-known complication in cystic fibrosis (CF). There is good evidence that maintaining a normal body-weight correlates well with improved survival in CF. Energy intake in excess of 120% of the estimated average requirement (EAR) has been advised since 1980s. OBJECTIVES: To investigate the nutritional intake and status in the adult Scandinavian CF-population. SUBJECTS/METHODS: A cross-sectional multi-centre study was used to investigate the nutritional status of 456 adult CF-patients (2003 2006). Height and weight were measured and body mass index (BMI) and z-scores were calculated. Pulmonary function was examined by dynamic spirometry. A 7-day pre-coded food record (FR) obtained energy and nutrient intake data in 180 patients. RESULTS: The mean energy intake was 114 (SD 30.0)% of EAR and thus significantly lower than the target of 120% EAR (p< 0.001) for patients with pancreatic insufficiency (PI) (n=136). Mean BMI was 22.0 (SD 2.9), the prevalence of BMI <18 was 13% and the prevalence of BMI ≥25 was 15% (n=136). Mean BMI was 20.8 (SD 2.4) in PI-patients with FEV(1) <70% and 23.2% (SD 3.0), in PI-patients with FEV(1) ≥70%, mean difference 2.4, (95% CI: 1.5, 3.3) (p<0.001), but there was no difference in energy intake. BMI ≥18.5 and a reported energy intake <120% were revealed in 54% of the PI-patients. CONCLUSIONS: The energy intake did not reach the recommended 120% EAR, but the prevalence of underweight was lower than reported in other studies. The recommendation may exceed the requirement for a number of CF-patients. The nutritional status must still be closely monitored and nutritional advice and intervention should be individualised and adjusted to actual needs.

Prevalence and outcome of pregnancies in Norwegian and Swedish women with cystic fibrosis.

BACKGROUND: As patients with cystic fibrosis now live longer, more women with cystic fibrosis wish to become mothers. We looked at the prevalence and outcome of pregnancies in women with cystic fibrosis who were alive in Norway and Sweden in the year 2000. METHODS: Women with cystic fibrosis aged 18 years and older attending cystic fibrosis centers in Norway and Sweden were included in the study. Information was obtained from medical records, interviews and questionnaires. RESULTS: One hundred and thirty-two women with cystic fibrosis were included. Sixty-one (46%) had considered or were now considering pregnancy. Forty-six (75%) of these 61 women had already conceived. Eighty pregnancies were reported, including 12 (15%) conceived by assisted reproductive techniques. There were eight (10%) induced abortions, 11 (14%) miscarriages, and one extrauterine pregnancy. The remaining 60 (75%) pregnancies resulted in live born infants. CONCLUSIONS: Today women with cystic fibrosis have a better chance of getting pregnant than previously reported. In this study, 75% of those who wanted to get pregnant had succeeded. Fifteen percent of pregnancies were conceived by artificial reproductive techniques. The possibility of motherhood must be considered in these patients. It is important to plan pregnancies with optimal follow up by a cystic fibrosis team.

Maternal and fetal morbidity in pregnancies of Norwegian and Swedish women with cystic fibrosis.

BACKGROUND: The survival of patients with cystic fibrosis has increased. More women with cystic fibrosis reach reproductive age and wish to become pregnant. The aim of this work was to study the outcome of completed pregnancies in women with cystic fibrosis in Norway and Sweden. METHODS: A retrospective audit from medical records was performed for 33 successful pregnancies in 23 women from the cystic fibrosis center in Norway and two cystic fibrosis centers in Sweden. Lung function, body weight and use of antibiotics together with other medical data were related to the complications and outcomes of the pregnancies. RESULTS: The most frequent complication of the pregnancies was preterm delivery, which occurred in 24% of cases. The lung function of the women was significantly lower in the preterm group than in those delivering at term. Those who went on to deliver preterm were more likely to have other cystic fibrosis complications including diabetes, asthma or liver disease. The weight gain of the women with cystic fibrosis delivering preterm was less than in the term group (corrected for gestation), but the frequency of pulmonary infections did not differ. As for the total group, lung function did not deteriorate during pregnancy, even though the need for intravenous antibiotics was doubled compared with the year before and after pregnancy. Weight gain in pregnancy was on average 10.3 kg, and almost half of the women needed supplementary nutrition. Gestational diabetes developed in four of the 23 patients. Caesarean sections were performed in eight of the 33 deliveries (24%), and 26 of the babies (79%) were breast-fed. None of the 33 children suffered from cystic fibrosis. CONCLUSION: Women with cystic fibrosis with mild to moderate disease may safely go through pregnancy. In those with severe disease, preterm delivery is common. A team approach is necessary to provide the best medical care for pregnant women with cystic fibrosis.