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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening
Ioanna Loukou1, Maria Moustaki1, Konstantinos Douros2
1Cystic Fibrosis Department, Agia Sofia Children's Hospital, Athens, Greece.
Insights
Cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID) require regular monitoring. While many children remain healthy, some may develop cystic fibrosis, necessitating ongoing clinical attention.
Area of Science:
- Pediatrics
- Genetics
- Metabolic Disorders
Background:
- Newborn screening for cystic fibrosis (CF) can result in uncertain diagnoses.
- Elevated immunoreactive trypsinogen levels in newborns necessitate further evaluation.
- The unified definition for CRMS/CFSPID was established in 2016 to categorize these infants.
Purpose of the Study:
- To familiarize clinicians with CRMS/CFSPID terminology.
- To highlight the monitoring and outcomes for children with CRMS/CFSPID.
- To emphasize the importance of regular follow-up for these infants.
Main Methods:
- A comprehensive literature review was conducted.
- PubMed database was searched from inception until November 30, 2022.
- A narrative review approach was employed, including all relevant articles.
Main Results:
- CRMS/CFSPID designation applies to infants with uncertain CF diagnosis post-newborn screening.
- A portion of these children may progress to develop CF.
- Regular monitoring is crucial for identifying potential CF development.
Conclusions:
- CRMS/CFSPID is a classification, not a definitive diagnosis.
- Longitudinal studies are needed to determine optimal follow-up strategies.
- Pediatrician awareness and CF center contact are vital for proper care.
Aim:
We aimed to familiarise clinicians with the terms cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We also sought to highlight the monitoring and outcomes of children that match these designations.
Methods:
A literature review was performed by searching PubMed from its inception until 30 November 2022. All relevant articles were included in this narrative review.
Results:
Despite the implementation of newborn screening programmes for cystic fibrosis (CF), the diagnosis remains uncertain in some newborn infants with elevated immunoreactive trypsinogen. In 2016, a unified definition for CRMS/CFSPID was established to categorise these children. While many of them remain healthy, a portion of these children may develop CF. As a result, it is crucial to monitor them regularly.
Conclusion:
CRMS/CFSPID is a designation and not a diagnosis. Longer longitudinal studies are needed to shed light on the most appropriate follow-up of these children. Paediatricians need to be knowledgeable about this condition in order to administer proper care, and children should be in contact with their local CF centre.
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