The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis

BackgroundPoor growth during infancy and childhood is a characteristic feature of cystic fibrosis (CF). However, the impact of CF on intrauterine growth is unclear. We studied the effect of CF on birth weight in Denmark and Wales, and assessed whether any associations are due to differences in gestational age at birth.MethodsWe conducted national registry linkage studies in two countries, using data for 2.2 million singletons born in Denmark (between 1980 and 2010) and Wales (between 1998 and 2015). We used hospital inpatient and outpatient data to identify 852 children with CF. Using causal mediation methods, we estimated the direct and indirect (via gestational age) effect of CF on birth weight after adjustment for sex, parity and socioeconomic background. We tested the robustness of our results by adjusting for additional factors such as maternal smoking during pregnancy in subpopulations where these data were available.ResultsBabies with CF were more likely to be born preterm and with low birth weight than babies with no CF (12.7% vs 5% and 9.4% vs 5.8% preterm; 11.9% vs 4.2% and 11% vs 5.4% low birth weight in Denmark and Wales, respectively). Using causal mediation methods, the total effect of CF on birth weight was estimated to be −178.8 g (95% CI −225.43 to −134.47 g) in the Danish population and −210.08 g (95% CI −281.97 to −141.5 g) in the Welsh population. About 40% of this effect of CF on birth weight was mediated through gestational age.ConclusionsCF significantly impacts on intrauterine growth and leads to lower birth weight in babies with CF, which is only partially explained by shorter gestation.

Download Full-text

Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-010-9174-7 ◽

2010 ◽

Vol 33 (S2) ◽

pp. 263-271 ◽

Cited By ~ 22

Author(s):

Olaf Sommerburg ◽

Martin Lindner ◽

Martina Muckenthaler ◽

Dirk Kohlmueller ◽

Svenja Leible ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

Sequential Analysis ◽

European Population ◽

Initial Evaluation ◽

Dna Testing ◽

Northern European ◽

Pancreatitis Associated Protein ◽

Immunoreactive Trypsinogen

Download Full-text

The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates

PEDIATRICS ◽

10.1542/peds.2010-0943d ◽

2010 ◽

Vol 127 (2) ◽

pp. peds.2010-0943d-peds.2010-0943d

Keyword(s):

Birth Weight ◽

Newborn Screening ◽

Gestational Age ◽

False Positive

Download Full-text

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

International Journal of Neonatal Screening ◽

10.3390/ijns5020018 ◽

2019 ◽

Vol 5 (2) ◽

pp. 18 ◽

Cited By ~ 2

Author(s):

Sharma Pandey ◽

Joshi ◽

Rajbhandari ◽

Kansakar ◽

Dhakal ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

Metabolic Disorders ◽

Screening Program ◽

Case Reports ◽

Thyroid Stimulating Hormone ◽

Newborn Screening Program ◽

Gestation Age ◽

Tandem Mass Spectroscopy ◽

Heel Prick

The prevalence of metabolic disorders in Nepal is yet unknown, although many case reports occur in literature. Heel-prick blood samples from newborns were collected on Dried Blood Spot (DBS) collection cards and tested through Tandem Mass Spectroscopy and fluorescence assays for disorders included in the Swiss neonatal screening program; two cases of hypothyroidism and one case of cystic fibrosis were identified. Thyroid stimulating hormone (TSH), immuoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) showed significant differences with gestation age. Most of the parameters were positively correlated with each other except galactose, galactose 1 phosphate uridyl transferase (GALT), and biotinidase. First and ninety-ninth percentiles in the Nepalese newborns were found to be different when compared with the Swiss newborns. Congenital hypothyroidism and cystic fibrosis are candidates to be considered for a newborn screening program in Nepal. Differences between the Nepalese and Swiss newborns in parametric values that change with gestation age can be attributed to a higher survival rate of pre-term babies in Switzerland. Others could be explained in part by early and exclusive breastfeeding in Nepalese newborns.

Download Full-text

Factors affecting the growth of infants diagnosed with cystic fibrosis by newborn screening

BMC Pediatrics ◽

10.1186/s12887-019-1727-9 ◽

2019 ◽

Vol 19 (1) ◽

Author(s):

K. D. Patterson ◽

T. Kyriacou ◽

M. Desai ◽

W. D. Carroll ◽

F. J. Gilchrist

Keyword(s):

Cystic Fibrosis ◽

Birth Weight ◽

Newborn Screening ◽

Clinic Visit ◽

Healthy Population ◽

Z Score ◽

Poor Growth ◽

Increased Risk ◽

Significant Difference ◽

Future Growth

Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) improves nutritional outcomes. Despite early dietetic intervention some children fail to grow optimally. We report growth from birth to 2 years in a cohort of children diagnosed with CF by NBS and identify the variables that influence future growth. Methods One hundred forty-four children were diagnosed with CF by the West Midlands Regional NBS laboratory between November 2007 and October 2014. All anthropometric measurements and microbiology results from the first 2 years were collated as was demographic and CF screening data. Classification modelling was used to identify the key variables in determining future growth. Results Complete data were available on 129 children. 113 (88%) were pancreatic insufficient (PI) and 16 (12%) pancreatic sufficient (PS). Mean birth weight (z score) was 3.17 kg (− 0.32). There was no significant difference in birth weight (z score) between PI and PS babies: 3.15 kg (− 0.36) vs 3.28 kg (− 0.05); p = 0.33. By the first clinic visit the difference was significant: 3.42 kg (− 1.39) vs 4.60 kg (− 0.48); p < 0.0001. Weight and height remained lower in PI infants in the first year of life. In the first 2 years of life, 18 (14%) infants failed to regain their birth weight z score. The median time to achieve a weight z score of − 2, − 1 and 0 was 18, 33 and 65 weeks respectively. The median times to reach the same z scores for height were 30, 51 and 90 weeks. Birth weight z score, change in weight z score from birth to first clinic, faecal elastase, isolation of Pseudomonas aeruginosa, isolation of Staphylococcus aureus and sweat chloride were the variables identified by the classification models to predict weight and height in the first and second year of life. Conclusions Babies with CF have a lower birth weight than the healthy population. For those diagnosed with CF by NBS, the weight difference between PI and PS babies was not significantly different at birth but became so by the first clinic visit. The presence of certain factors, most already identifiable at the first clinic visit can be used to identify infant at increased risk of poor growth.

Download Full-text

Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion

International Journal of Neonatal Screening ◽

10.3390/ijns7010001 ◽

2020 ◽

Vol 7 (1) ◽

pp. 1

Author(s):

Ambika Shenoy ◽

Dina Spyropoulos ◽

Kathleen Peeke ◽

Dawn Smith ◽

Michael Cellucci ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

Gestational Age ◽

Diagnostic Testing ◽

Sweat Test ◽

Inherited Disease ◽

Success Rates ◽

Factors Affecting ◽

Laboratory Staff ◽

Sweat Chloride

Newborn screening (NBS) for Cystic Fibrosis (CF) has revolutionized the diagnosis of this inherited disease. CF NBS goals are to identify, diagnose, and initiate early CF treatment to attain better health outcomes. Abnormal CF NBS infants require diagnostic analysis via sweat chloride testing (ST). During ST, insufficient sweat volume collection causes a “quantity not sufficient” (QNS) test result and may delay CF diagnosis. The CF Foundation recommends QNS rates <10% for infants <3 months, but many CF Centers experience difficulties meeting this standard. Our quality improvement (QI) study assessed infant and laboratory factors contributing to ST success and QNS rates from 2017–2019. Infants’ day of life (DOL) at successful ST completion was analyzed according to infant factors (birth weight (BW), gestational age, ethnicity, and sex). Laboratory factors and procedures affecting ST outcomes were also reviewed. At our institution, BW and gestational age were the infant factors found to significantly affect DOL at ST completion. ST education, reduced number of laboratory technicians, and direct observation during ST completion also improved ST success rates. This study supports QI measures and partnerships between CF centers and laboratory staff to identify and improve ST QNS rates while sustaining practices to ensure timely CF diagnostic testing.

Download Full-text