Screening for cystic fibrosis (CF) was recently added to the neonatal screening programme in the Netherlands. Four patients with renal failure whose heel prick tests were positive for CF as defined by raised levels of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) are described. Both cystic fibrosis transmembrane conductance regulator (CFTR) DNA analysis and sweat tests were negative. Limited renal function can be a cause of false positive neonatal screening for CF using IRT and PAP.
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http://dx.doi.org/10.1136/thx.2010.130187 | DOI Listing |
Braz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
Indian J Pediatr
January 2025
Department of Biochemistry, All India Institute of Medical Sciences, Bibinagar, Hyderabad, Telangana, India.
This hospital-based cross-sectional study aimed to screen newborns for sickle cell anemia immediately after birth and validate dried blood spot (DBS) samples against conventional venous blood samples (CBS) for hemoglobin variant analysis by HPLC. Among 751 newborns, 2.93% were found to have sickle cell trait.
View Article and Find Full Text PDFPediatr Radiol
January 2025
Department of Radiology, Korea University Ansan Hospital, Korea University College of Medicine, Ansan, Republic of Korea.
Background: Cerebellar hemorrhage in neonates is increasingly being identified but is still underdiagnosed. While magnetic resonance imaging (MRI) is the optimal imaging modality for cerebellar hemorrhage evaluation, ultrasonography (US) is commonly used for screening. Characterizing the patterns and distribution of cerebellar hemorrhage lesions can help facilitate its detection by aiding to focus on prevailing type of cerebellar hemorrhage.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
Clin Chem
January 2025
Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
Background: Newborn screening is a public health system designed to identify infants at risk for conditions early in life to facilitate timely intervention and treatment to prevent or mitigate adverse health outcomes. Newborn screening programs use tandem mass spectrometry as a platform to detect several treatable inborn errors of metabolism, and the T-cell receptor excision circle assay to detect some inborn errors of the immune system. Recent advancements in DNA sequencing have decreased the cost of sequencing and allow us to consider DNA sequencing as an additional platform to complement other newborn screening methods.
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