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Published on: June 5, 2014
False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis
J F Heidendael1, M M Tabbers, I De Vreede
1Department of Pediatric Pulmonology, Emma Children's Hospital, Academic Medical Center, Room H7-217, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
Insights
Cystic fibrosis (CF) can be missed in newborns with neonatal cholestasis despite negative screening. Always consider CF in infants with cholestasis, even with a false-negative newborn screening result.
Area of Science:
- Medical Genetics
- Pediatrics
- Neonatology
Background:
- Newborn screening for cystic fibrosis (CF) aims for early diagnosis and improved patient outcomes.
- High sensitivity screening protocols can still yield false-negative results, potentially delaying diagnosis.
- Neonatal cholestasis is a presenting symptom of CF that may be overlooked, especially in premature infants with complex co-pathologies.
Observation:
- A case of a 10-week-old premature infant with a false-negative newborn screening for CF is presented.
- The infant's cystic fibrosis presented with neonatal cholestasis.
- Diagnostic methods included immunoreactive trypsinogen, pancreatitis-associated protein, and CFTR mutation analysis/sequencing.
Findings:
- False-negative newborn screening for cystic fibrosis can occur.
- Neonatal cholestasis can be an initial presentation of cystic fibrosis in infants with false-negative screening.
- Premature infants may be at higher risk for missed CF diagnoses due to complex medical management.
Implications:
- Cystic fibrosis should be suspected in infants presenting with neonatal cholestasis, irrespective of newborn screening results.
- Increased clinical awareness is crucial for diagnosing CF in cases of neonatal cholestasis with negative screening.
- This case highlights the importance of considering CF in the differential diagnosis of neonatal cholestasis, even with a negative newborn screen.
Unlabelled:
Newborn screening for cystic fibrosis enables early diagnosis and treatment, leading to better outcomes for patients with cystic fibrosis. Although the sensitivity of several screening protocols is high, false negative screening results of the newborn patient still occur, which can lead to a significant delay in diagnosis when the awareness for presenting symptoms of cystic fibrosis declines. Neonatal cholestasis is one of the presenting symptoms of cystic fibrosis but can be easily missed when total parenteral nutrition has been given. Premature newborns are probably more at risk of a missed underlying diagnosis than term babies because their co-pathologies and management are often more complex. We present a case of a 10-week-old premature boy with a false negative newborn screening for cystic fibrosis, in whom cystic fibrosis presented with neonatal cholestasis. In this case, the immunoreactive trypsinogen/pancreatitis-associated protein/35 cystic fibrosis transmembrane regulator mutation analysis/sequencing method was used. Furthermore, an overview of the literature on missed diagnosis of cystic fibrosis due to a false negative newborn screen is provided.
Conclusion:
Cystic fibrosis (CF) should be considered in infants with neonatal cholestasis even when the newborn screening for CF is reported to be negative.
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