AIMC Topic: Neonatal Screening
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Revolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches.
Pediatric research
Feb 10, 2024
Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism.
Clinical biochemistry
Mar 4, 2023
OBJECTIVE: The Dutch Congenital hypothyroidism (CH) Newborn Screening (NBS) algorithm for thyroidal and central congenital hypothyroidism (CH-T and CH-C, respectively) is primarily based on determination of thyroxine (T4) concentrations in dried bloo...
Newborn Eye Screening as an Application of AI.
Ophthalmic surgery, lasers & imaging retina
Dec 1, 2021
Artificial intelligence (AI) applications are diverse and serve varied functions in clinical practice. The most successful products today are clinical decision tools used by physicians, but autonomous AI is gaining traction. Widespread use of AI is l...
Machine learning guided postnatal gestational age assessment using new-born screening metabolomic data in South Asia and sub-Saharan Africa.
BMC pregnancy and childbirth
Sep 7, 2021
BACKGROUND: Babies born early and/or small for gestational age in Low and Middle-income countries (LMICs) contribute substantially to global neonatal and infant mortality. Tracking this metric is critical at a population level for informed policy, ad...
[Main biological tools applied to newborn screening: Landscape and future perspectives].
Medecine sciences : M/S
May 18, 2021
Over the past fifty years, neonatal screening has become essential in the public health programs of a large number of countries. During all these years, the number of detectable diseases has continued to grow, following the possibilities offered by t...
Automated Explainable Multidimensional Deep Learning Platform of Retinal Images for Retinopathy of Prematurity Screening.
JAMA network open
May 3, 2021
IMPORTANCE: A retinopathy of prematurity (ROP) diagnosis currently relies on indirect ophthalmoscopy assessed by experienced ophthalmologists. A deep learning algorithm based on retinal images may facilitate early detection and timely treatment of RO...
Dysmorphology in a Genomic Era.
Clinics in perinatology
Oct 31, 2019
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
Towards the automated economic assessment of newborn screening for rare diseases.
Journal of biomedical informatics
May 22, 2019
OBJECTIVE: Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from different sources. Sharing and automatically or semi-automatically reusing this informat...
A metabolomics-based approach for non-invasive screening of fetal central nervous system anomalies.
Metabolomics : Official journal of the Metabolomic Society
May 25, 2018
BACKGROUND: Central nervous system anomalies represent a wide range of congenital birth defects, with an incidence of approximately 1% of all births. They are currently diagnosed using ultrasound evaluation. However, there is strong need for a more a...
17-hydroxiprogesterone values in healthy preterm infants.
Colombia medica (Cali, Colombia)
Dec 30, 2017
INTRODUCTION: In preterm newborn, problems with the interpretation of 17-OHP may occur.
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