Vol. 9, Iss 1 | IJNS

Review

29 Citations

8,584 Views

14 Pages

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

Giancarlo la Marca,
Rachel. S. Carling,
Stuart. J. Moat,
Raquel Yahyaoui,
Enzo Ranieri,
James. R. Bonham and
Peter. C. J. I. Schielen

Int. J. Neonatal Screen.2023, 9(1), 15;https://doi.org/10.3390/ijns9010015

17 March 2023

In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, N...

Full Article

Article

1 Citations

3,070 Views

10 Pages

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program

Shivon Belle Jarvis,
Edda Hadeed,
Ketty Lee,
Marie-Dominique Hardy-Dessources,
Jennifer M. Knight-Madden and
Claudine Richardson

Int. J. Neonatal Screen.2023, 9(1), 14;https://doi.org/10.3390/ijns9010014

1 March 2023

The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainabi...

Full Article

Article

4 Citations

3,287 Views

8 Pages

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

Paul Dantonio,
Norma P. Tavakoli,
Brooke Migliore,
Elizabeth McCown,
Timothy Lim,
Sunju Park,
Michele Caggana,
Katerina S. Kucera,
Han Phan and
Natalie Street
+ 2 authors

Int. J. Neonatal Screen.2023, 9(1), 13;https://doi.org/10.3390/ijns9010013

28 February 2023

Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program...

Full Article

Opinion

8 Citations

3,099 Views

4 Pages

Implications of Genomic Newborn Screening for Infant Mortality

Monica H. Wojcik and
Nina B. Gold

Int. J. Neonatal Screen.2023, 9(1), 12;https://doi.org/10.3390/ijns9010012

28 February 2023

Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS). Genomic sequencing may complement current NBS laboratory analyses or may be used as a first...

Full Article

Article

8 Citations

3,255 Views

16 Pages

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I

M. Christine Dorley,
George J. Dizikes,
Charles Austin Pickens,
Carla Cuthbert,
Khaja Basheeruddin,
Fizza Gulamali-Majid,
Paul Hetterich,
Amy Hietala,
Ashley Kelsey and
Tracy Klug
+ 7 authors

Int. J. Neonatal Screen.2023, 9(1), 11;https://doi.org/10.3390/ijns9010011

27 February 2023

In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe...

Full Article

Article

8 Citations

4,429 Views

7 Pages

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency

Jayakrishna Tippabathani,
Venu Seenappa,
Alagupandian Murugan,
Nagaraja Mahishi Phani,
Mahesh H. Hampe,
Giridharan Appaswamy and
Prakash Sadashiv Gambhir

Int. J. Neonatal Screen.2023, 9(1), 9;https://doi.org/10.3390/ijns9010009

21 February 2023

Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone...

Full Article

Article

16 Citations

3,630 Views

6 Pages

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Payal Patel,
Jana Yeley,
Cynthia Brown,
Melissa Wesson,
Barbara G. Lesko,
James E. Slaven,
James F. Chmiel,
Raksha Jain and
Don B. Sanders

Int. J. Neonatal Screen.2023, 9(1), 10;https://doi.org/10.3390/ijns9010010

21 February 2023

Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to th...

Full Article

1 Citations

1,681 Views

1 Page

Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20”

Simon A. Jones,
David Cheillan,
Anupam Chakrapani,
Heather J. Church,
Simon Heales,
Teresa H. Y. Wu,
Georgina Morton,
Patricia Roberts,
Erica F. Sluys and
Alberto Burlina

Int. J. Neonatal Screen.2023, 9(1), 8;https://doi.org/10.3390/ijns9010008

16 February 2023

The commentary provided by Maase et al. [...]

Full Article

Comment

2 Citations

1,803 Views

2 Pages

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20

Rose Maase,
Marleen E. Jansen,
Marie-Louise Heijnen and
Eugenie Dekkers

Int. J. Neonatal Screen.2023, 9(1), 7;https://doi.org/10.3390/ijns9010007

15 February 2023

With innovations in both the screening methodologies and treatment of diseases, newborn screening (NBS) programmes are confronted with an increasing number of candidate diseases [...]

Full Article

Review

14 Citations

4,890 Views

14 Pages

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Charles R. Lefèvre,
François Labarthe,
Diane Dufour,
Caroline Moreau,
Marie Faoucher,
Paul Rollier,
Jean-Baptiste Arnoux,
Marine Tardieu,
Léna Damaj and
Claude Bendavid
+ 3 authors

Int. J. Neonatal Screen.2023, 9(1), 6;https://doi.org/10.3390/ijns9010006

1 February 2023

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiol...

Full Article

International Journal of Neonatal Screening, Volume 9, Issue 1

Articles (15)

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

Implications of Genomic Newborn Screening for Infant Mortality

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20”

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France