One in every 10,000 children is born with SMA and half of them will not even live two years. It is a hereditary genetic disorder, where the muscles die. If it is discovered just after birth, newborns can get the newest medicines to maintain their health. Unlike some other common genetic diseases (e.g. Down-Syndrome), SMA can be screened prior to pregnancy to determine whether the parents are carriers. In Hungary, people have urged reform, due to the baby Zente case, whose story has reached millions. Australia and Germany have also discovered the need for screenings. However, the US has already introduced newborn screening for SMA, far ahead of European countries. National policies should adhere to the same path to contribute to appropriate family planning and to make the treatment available as soon as needed to provide a longer and better life for sick infants.
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Pediatr Cardiol
January 2025
Department of Pediatric Cardiology, Seattle Children's Hospital, Seattle, WA, USA.
Fetal echocardiography (FE) is recommended for parents with congenital heart disease (pCHD) due to a 3-6% recurrence risk of congenital heart disease (CHD). This study aimed to evaluate the cost of FE for detecting neonatal CHD in pCHD. FE data were collected between 12/2015 and 12/2022.
View Article and Find Full Text PDFEur Thyroid J
January 2025
C Mooij, Emma Childrens' Hospital UMC, Amsterdam, Netherlands.
Background: Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening programs (NBS) for CH. Since NBS for CH was started in Canada in 1974, numerous countries have successfully implemented this public health strategy. However, in 2014, only 29.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.
Background: Notwithstanding guidance from the European Cystic Fibrosis (CF) Society (ECFS) neonatal screening (NBS) working group, significant variation persists in the evaluation and management of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) subjects, leaving many aspects of care under debate. This study reports the results of a national survey investigating management and treatment approaches of pre-school CFSPIDs in Italy.
Methods: In February 2024, a comprehensive questionnaire was distributed to all Italian CF centers.
Tunis Med
January 2025
University Hassan II of Casablanca, Faculty of medicine and pharmacy of Casablanca, Abderrahim HAROUCHI Mother-child hospital, Pediatric Anesthesiology and Intensive Care Unit, Laboratory of clinical immunology, inflammation and allergy (LICIA), Casablanca, Morocco.
Introduction: Pediatric sepsis remains a leading cause of morbidity and mortality in Africa. Nearly half of pediatric sepsis deaths occur in previously healthy children. The role of inborn errors of immunity (IEI) in susceptibility to sepsis is yet to be identified and their prevalence amongst previously healthy children admitted to the pediatric intensive care unit (PICU) is unclear.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan.
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.
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