scholarly journals Abnormal Newborn Screen in an Ex-premature Infant fed Goat Milk

2021 ◽  
Vol 8 (10) ◽  
pp. 1744
Author(s):  
Trishell Simon ◽  
Gillian Belnavis ◽  
Kimberly Reynolds
Keyword(s):  
Early Diagnosis ◽  
Newborn Screening ◽  
Premature Infant ◽  
Infant Nutrition ◽  
Goat Milk ◽  
External Factors ◽  
Newborn Screen ◽  
Metabolic Conditions

Newborn screening is an important tool in the early diagnosis or detection of rare genetic and metabolic conditions. There are external factors that may influence results. One such is infant nutrition. This article discusses the case of a three month old infant with an abnormal newborn screen in the setting of being fed whole goat milk as well as the importance of reviewing infant nutrition with parents.

scholarly journals Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

2021 ◽  
Vol 7 (3) ◽  
pp. 40
Author(s):  
Anne E. Atkins ◽  
Michael F. Cogley ◽  
Mei W. Baker
Keyword(s):  
Newborn Screening ◽  
Premature Infant ◽  
Gestational Age ◽  
Linear Regression Analysis ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Full Term ◽  
Combined Immunodeficiency ◽  
Term Infants ◽  
Preterm Newborns

The Wisconsin Newborn Screening (NBS) Program began screening for severe combined immunodeficiency (SCID) in 2008, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) in DNA isolated from dried blood NBS specimens. Prompted by the observation that there were disproportionately more screening-positive cases in premature infants, we performed a study to assess whether there is a difference in TRECs between full-term and preterm newborns. Based on de-identified SCID data from 1 January to 30 June 2008, we evaluated the TRECs from 2510 preterm newborns (gestational age, 23–36 weeks) whose specimens were collected ≤72 h after birth. The TRECs from 5020 full-term newborns were included as controls. The relationship between TRECs and gestational age in weeks was estimated using linear regression analysis. The estimated increase in TRECs for every additional week of gestation is 9.60%. The 95% confidence interval is 8.95% to 10.25% (p ≤ 0.0001). Our data suggest that TRECs increase at a steady rate as gestational age increases. These results provide rationale for Wisconsin’s existing premature infant screening procedure of recommending repeat NBS following an SCID screening positive in a premature infant instead of the flow cytometry confirmatory testing for SCID screening positives in full-term infants.

L’omocistinuria classica in età pediatrica

2021 ◽  
Vol 24 (10) ◽  
pp. 309-313
Author(s):  
Aldo Ravaglia ◽  
Giulia Costagliola ◽  
Marco Spada
Keyword(s):  
Connective Tissue ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Developmental Delay ◽  
Inborn Error ◽  
Specific Therapy ◽  
Cystathionine Beta Synthase ◽  
Expanded Newborn Screening

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increase in homocysteine leads to a multisystem syndrome that involves connective tissue, nervous and vascular systems with a predisposition to thromboembolism and developmental delay in childhood. An early diagnosis allows the specific therapy to be promptly started and prevents the classical manifestations of the disease. Since 2016 in Italy homocystinuria detection has been included in the expanded newborn screening. However, it is important not to forget this disease, because of its severe consequences of an untreated condition on the quality and expectancy of life.

scholarly journals Challenges of using next generation sequencing in newborn screening

2015 ◽  
Vol 97 ◽  
Author(s):  
EYAL REINSTEIN
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Ethical Issues ◽  
Whole Genome ◽  
Short Article ◽  
Public Health Programs ◽  
Whole Exome ◽  
Metabolic Conditions ◽  
Widespread Dissemination

SummaryWhole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

scholarly journals Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Oladele Simeon Olatunya ◽  
Adefunke Olarinre Babatola ◽  
Ezra Olatunde Ogundare ◽  
Babatunde Ajayi Olofinbiyi ◽  
Olubunmi Adeola Lawal ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Universal Coverage ◽  
Cell Disease ◽  
Cross Sectional ◽  
Southwestern State

Background. Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results. Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p<0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion. The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.

Bovine milk fortifiers and fortified pasteurized donor human milk for premature infant nutrition. Peptidomic overview

LWT ◽  
2021 ◽  
Vol 135 ◽  
pp. 110037
Author(s):  
Valentina Pica ◽  
Milda Stuknytė ◽  
Fabio Masotti ◽  
Ivano De Noni ◽  
Stefano Cattaneo
Keyword(s):  
Human Milk ◽  
Premature Infant ◽  
Infant Nutrition ◽  
Bovine Milk ◽  
Donor Human Milk

scholarly journals Challenges for Worldwide Harmonization of Newborn Screening Programs

2016 ◽  
Vol 62 (5) ◽  
pp. 689-698 ◽  
Author(s):  
Eduardo Martínez-Morillo ◽  
Belén Prieto García ◽  
Francisco V Álvarez Menéndez
Keyword(s):  
Newborn Screening ◽  
Current Evidence ◽  
Lysosomal Storage ◽  
Screening Programs ◽  
Inherited Metabolic Disorders ◽  
Intermediate Metabolites ◽  
The Us ◽  
Metabolic Conditions ◽  
Multiple Challenges ◽  
High Degree

Abstract BACKGROUND Inherited metabolic disorders (IMDs) are caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, hundreds of IMDs have been identified. Many of these diseases are potentially fatal conditions that are not apparent at birth. Newborn screening (NBS) programs involve the clinical and laboratory examination of neonates who exhibit no health problems, with the aim of discovering those infants who are, in fact, suffering from a treatable condition. CONTENT In recent years, the introduction of tandem mass spectrometry has allowed the expansion of screening programs. However, this expansion has brought a high degree of heterogeneity in the IMDs tested among different NBS programs. An attempt to harmonize the metabolic conditions recommended to be screened has been carried out. Two uniform screening panels have been proposed in the US and European Union, by knowledgeable organizations. Here, we review current evidence-based processes to assess and expand NBS programs. We also discuss the IMDs that have recently been introduced in some screening programs, such as severe combined immunodeficiencies, lysosomal storage disorders, and adrenoleukodystrophy. SUMMARY NBS programs have been an established public health function for more than 50 years to efficiently and cost-effectively identify neonates with severe conditions. However, NBS is not yet optimal. This review is intended to elucidate the current degree of harmonization of NBS programs worldwide as well as to describe the major controversial points and discuss the multiple challenges that must be confronted in expanded NBS strategies.

scholarly journals Medical Genetics: …still growing and expanding…

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Sylvia C. Estrada
Keyword(s):  
Newborn Screening ◽  
Genetic Counselling ◽  
Disease Risk ◽  
The Philippines ◽  
Medical Genetics ◽  
Genetic Services ◽  
Trisomy 13 ◽  
Endocrine Disorders ◽  
Expanded Newborn Screening ◽  
Metabolic Conditions

Today, it is not uncommon to read about novel treatments for conditions that were considered “untreatable” 30 or 40 years ago. Learning about biochemical or metabolic disorders then was challenging because there were no confirmed patients to speak of in the Philippines. Unexplained neonatal deaths were attributed to sepsis and there was no genetic test to challenge the diagnosis which had sound clinical basis. Multiple congenital anomalies were viewed as normal deviations or variants of an embryologic process. Did we even think then that these anomalies were part of a syndrome? With the establishment and expansion of genetic services in the country1, among them cytogenetics, newborn screening, molecular and biochemical genetics, our pediatric “unknowns” now have names of conditions that were only encountered in textbooks: maple syrup urine disease, PKU, methyl malonic acidemia, glutaric aciduria, mosaic Trisomy 13 and Tetrasomy 9p Syndrome. The Philippines joined the rest of the world in December 2018 when the Department of Health implemented the expanded newborn screening nationwide.2 This provided a platform to screen for at least 28 metabolic conditions, including hematologic and endocrine disorders. This ushered in a better understanding of the clinical course of conditions detected at birth and treated promptly. It opened doors for research collaboration between specialties within the country and overseas.3 More importantly, it paved the way for better care for patients through sharing of expertise, best practices and the crafting of clinical practice guidelines.4 Acta Medica Philippina Genetics 6 highlights the diversity of applications and reach of medical genetics into various aspects of health care: preconception, early neonatal detection of treatable genetic metabolic conditions, disease risk detection and allelic associations, gaps in education of genetic conditions and genetic counselling. The case reports and case series describe various conditions and scenarios that offer opportunities to be acquainted with uncommon genetic phenotypes. May Acta Genetics 6 inspire the reader to explore the limitless possibilities of the applications of medical genetics. Sylvia C. Estrada, MD, FPPSInstitute of Human GeneticsNational Institutes of HealthUniversity of the Philippines Manila REFERENCES1. Padilla CD, de la Paz EMC. Genetic services and testing in the Philippines. J Community Genet. 2013 Jul; 4(3):399-411.2. DOH Administrative Order Number 2018-0025 on National Policy and Strategic Framework on Expanded Newborn Screening for 2017-2030 [Internet]. [cited 2020 Aug]. Available from https://www.doh.gov.ph/newborn-screening3. Abad PJB, Laurino MY, Daack-Hirsch S, Abad LR, Padilla CD. Parent-child communication about Congenital Adrenal Hyperplasia: Filipino mother’s experience. Acta Med Phillip. 2017; 51(3):175-80.4. Abad PJB, Laurino MY. Preconception genetic counselling in a Filipino couple with family history of Trisomy 18. Acta Med Phillip. 2017; 51(3):248-50.

New considerations in hematopoietic stem cell transplantation for severe combined immunodeficiency: how did newborn screening change our field, and can we finally brake the glass ceiling for haploidentical transplantation?

2019 ◽  
Vol 6 (3) ◽  
pp. 87-94
Author(s):  
Nufar Marcus
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Early Diagnosis ◽  
Stem Cell Transplantation ◽  
Newborn Screening ◽  
Cell Transplantation ◽  
Treatment Options ◽  
Fatal Disease ◽  
Hematopoietic Stem ◽  
Matched Sibling

Pioneered in 1968, hematopoietic stem cell transplantation (HSCT) first cured a patient with severe combined immune deficiency (SCID) transplanted from a matched sibling, bringing hope for this previously fatal disease. Since then, HSCT has become the standard of care treatment for SCID with thousands of patients transplanted successfully worldwide. Initially successful mainly in patients with a matched sibling donor and in specific easier to transplant types of SCID, nowadays, most patients with SCID undergo successful transplantation due to HSCT technique advances. These include refined human leukocyte antigen (HLA)-tissue typing, use of alternative donors, availability of new stem cell sources such as umbilical cord blood, less toxic chemotherapeutic conditioning, as well as improved graft-versus-host disease (GvHD) prophylaxis. Other factors contributing to the success of transplantation include the improvement of supportive care by molecular detection of viral infections, enabling preemptive antiviral treatment before organ damage occurs. Increased awareness for primary immunodeficiency disorders (PID), leading to earlier diagnosis and referral to specialist centers, has been another important factor in successfully transplanting SCID patients. A major game changer in the last decade has been the implementation of neonatal screening for SCID. This increased early diagnosis, allowing for this disease to be almost universally diagnosed soon after birth in countries which included this test in their newborn screening program. As a result, early and optimal transplant timing and conditions could be achieved. However, very early diagnosis also raised new questions regarding SCID patients with a “leaky” phenotype, as well as dilemmas regarding transplant and conditioning regimens in very young infants. With improved diagnosis and treatment options, overall survival has increased to over 90% for SCID babies with a genoidentical donor and similar results are emerging for matched unrelated donor HSCT. Due to new advances, we hope to achieve similar results for those given HSCT from haploidentical donors as well. This review will focus on the new considerations in HSCT seen in recent years, and examines the effect they have had on treatment options and outcomes for SCID patients. Statement of novelty: The field of HSCT has advanced considerably since the first successful SCID bone marrow transplant in 1968. However, success rates have been limited due to delayed diagnosis and poor outcome of patients for which a HLA-matched donor could not be found. This review will discuss recent advances occurring in the last decade in HSCT for SCID, and our hopes to bring cure to this once fatal disease.

scholarly journals The Changing Face of Cystic Fibrosis and Its Implications for Screening

2020 ◽  
Vol 6 (3) ◽  
pp. 54 ◽  
Author(s):  
Lutz Naehrlich
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Life Expectancy ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Treatment Options ◽  
Preventive Treatment ◽  
Multidisciplinary Care ◽  
The Face

Early diagnosis, multidisciplinary care, and optimized and preventive treatments have changed the face of cystic fibrosis. Life expectancy has been expanded in the last decades. Formerly a pediatric disease, cystic fibrosis has reached adulthood. Mutation-specific treatments will expand treatment options and give hope for further improvement of quality of life and life expectancy. Newborn screening for CF fits perfectly into these care structures and offers the possibility of preventive treatment even before symptoms occur. Especially in countries without screening, newborn screening will fulfill that promise only with increased awareness and new care structures.

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