Programs and Policy Scholarly Articles

This page contains a selection of recently published scholarly articles. These articles do not necessarily represent the beliefs or ideals behind Baby's First Test, and are instead meant to serve as a resource for individuals looking for scholarly work related to newborn screening. Feel free to check back as we will update this page regularly!

Medium-chain Acyl-CoA Dehydrogenase Deficiency Associated with a Novel Splice Mutation in the ACADM Gene Missed by Newborn Screening

Sarah C. Grünert, A. Wehrie, P. Villavicencio-Lorini, E. Lausch, B. Vetter, K.O. Schwab, S. Tucci, U. Spiekerkoetter

BMC Medical Genetics 2015, 16:56  doi:10.1186/s12881-015-0199-5

Recommendations for the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children.

Paul S. Thornton, MB, BCh1 , Charles A. Stanley, MD2 , Diva D. De Leon, MD, MSCE2 , Deborah Harris, PhD3 , Morey W. Haymond, MD4 , Khalid Hussain, MD, MPH5 , Lynne L. Levitsky, MD6 , Mohammad H. Murad, MD, MPH7 , Paul J. Rozance, MD8 , Rebecca A. Simmons, MD9 , Mark A. Sperling, MBBS10, David A. Weinstein, MD, MMSc11, Neil H. White, MD12, and Joseph I. Wolfsdorf, MB, BCh13

Journal of Pediatrics. http://dx.doi.org/10.1016/j.jpeds.2015.03.057

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years.

Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM

J Allergy Clin Immunol. 2013 July. doi: 10.1016/j.jaci.2013.04.024

Implementing recommended screening for critical congenital heart disease

Martin GR, Beekman RH 3rd, Mikula EB, Fasules J, Garg LF, Kemper AR, Morrow WR, Pearson GD, Mahle WT

Pediatr 2013 Jul. [Epub ahead of print]

Optimizing Newborn Screening for Congenital Adrenal Hyperplasia

Perrin C., White MD

J Pediatrics. 2013 July.

Novel CFTR Variants Identified during the First 3 Years of Cystic Fibrosis Newborn Screenng in California

Prach L, Koepke R, Kharrazi M., Keiles S., et al.

J Mol Diagn. 2013 Jun 27. [Epub ahead of print]

Parents' interest in whole-genome sequencing of newborns

Goldenberg AJ, Dodson DS, Davis MM, Tarini BA

Genet Med U S A. 2013 Jun 6. [Epub ahead of print]

Congenital Adrenal Hyperplasia and the Second Newborn Screen

Chan CL, McFann K, Taylor L., Wright D., Zeitler PS, Barker JM

J Pediatr 2013 Feb 12. [Epub ahead of print]

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.

Proc Natl Acad Sci U S A. 2013 Jan 28. [Epub ahead of print]

Parent's attitude toward prenatal diagnosis and termination of pregnancy could be influenced by other factors rather than by the severity of the condition

Alsulaiman A, Abu-Amero KK., Prenat Diagn. 2013 Jan 24. doi: 10.1002/pd.4055. [Epub ahead of print]

Informed decision making regarding antenatal screening for fetal abnormality in the United Kingdom: A qualitative study of parents and professionals

Barr O, Skirton H., Nurs Health Sci. 2013 Jan 24. doi: 10.1111/nhs.12034. [Epub ahead of print]

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Stark Z, Massie J, McClaren B, Ioannou L, Cousens N, Lewis S, Metcalfe S, Delatycki MB., Twin Res Hum Genet. 2013 Jan 21:1-7. [Epub ahead of print]

Prenatal Screening

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren BJ, Aitken M, Massie J, Amor D, Ukoumunne OC, Metcalfe SA., Genet Med. 2013 Jan 24. doi: 10.1038/gim.2012.175. [Epub ahead of print]

Neonatal Screening


An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening
Cooley WC, Kemper AR., Genet Med. 2013 Jan 31. doi: 10.1038/gim.2012.122. [Epub ahead of print]

Implications of Newborn Screening for Nurses
Deluca J, Zanni KL, Bonhomme N, Kemper AR., J Nurs Scholarsh. 2013 Jan 31. doi: 10.1111/jnu.12005. [Epub ahead of print]

Expectations and values about expanded newborn screening: a public engagement study
Hayeems RZ, Miller FA, Bombard Y, Avard D, Carroll J, Wilson B, Little J, Chakraborty P, Bytautas J, Giguere Y, Allanson J, Axler R., Health Expect. 2013 Feb 1. doi: 10.1111/hex.12047. [Epub ahead of print]

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)
Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L., Eur J Hum Genet. 2013 Jan 23. doi: 10.1038/ejhg.2012.301. [Epub ahead of print]
"He didn't say that thalassaemia might come up" - Beta-thalassaemia carriers' experiences and attitudes
Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB., J Community Genet. 2013 Jan 13. [Epub ahead of print]

Newborn Oxygen Saturation at Mild Altitude versus Sea Level: Implications for Neonatal Screening for Critical Congenital Heart Disease.Samuel TY, Bromiker R, Mimouni FB, Picard E, Lahav S, Mandel D, Goldberg S, Acta Paediatr. 2013 Jan 8.  [Epub ahead of print]