In recent years, as newborn screening has expanded to include conditions for which treatment is questionable, new rationales for screening have proliferated. One such rationale is the potential reproductive benefit to parents from the detection of a genetic condition or carrier status in infants. An unanticipated consequence of invoking knowledge of reproductive risk as a major benefit of screening has been to open newborn screening to the charge that it constitutes state-sanctioned eugenics. Thus, an endeavor that had been viewed as the converse of state programs of selective breeding has come to be seen in some quarters as yet another of its incarnations. The result has been serious and self-inflected harm to the reputation of newborn screening programs.
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http://dx.doi.org/10.1002/hast.876 | DOI Listing |
Cureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
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January 2025
Center of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, Abuja, Nigeria.
Introduction: Newborn Screening (NBS) is a public health program designed to identify and provide early interventions for infants with genetic disorders such as Sickle Cell Disease (SCD). Lack of awareness and unwillingness to participate in the NBS by caregivers and some healthcare workers are major contributing factors impeding NBS for SCD.
Objective: To evaluate the level of awareness and acceptance of NBS for SCD and the determinant factors influencing caregivers in Gwagwalada Area Council of the Federal Capital Territory, Abuja, Nigeria.
BMC Infect Dis
January 2025
Department of Obstetrics and Gynecology, Taixing People's Hospital, No.1, Changzheng Road, Taixing, Jiangsu, 225400, China.
Background: Group B Streptococcus (GBS) colonization is one of the major causes of severe neonatal infections. The study was intended to identify GBS colonization in pregnant women, explore its potential risk factors, and analyze the impact of GBS on outcomes for both mothers and newborns.
Material And Methods: A retrospective research was carried out on pregnant women who had undergone GBS screening and delivered from June 2020 to December 2022.
Acta Paediatr
January 2025
Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska Institutet/Karolinska University Hospital, Stockholm, Sweden.
Aim: To investigate fasting metabolism in children with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD) using microdialysis technique.
Methods: Twelve patients (7 with VLCADD, 5 with MCADD, mean age 4.9 years, 10/12 diagnosed via newborn screening) were recruited for investigation in connection to clinical fasting examinations at the Karolinska University Hospital (between 2015 and 2024).
Biomedica
December 2024
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Introduction: Congenital lymphopenias cause increased susceptibility to infections in children apparently healthy at birth. Earlier detection of these conditions would facilitate prompt treatment, prevent potentially serious disease complications and early deaths, and save healthcare resources.
Objective: To perform a pilot study for neonatal screening of congenital lymphopenias by the quantification of TREC and KREC –T- and B-cell receptor excision circles– in peripheral blood samples from newborns in Medellín, Colombia.
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