Neonatal Screening: from the 'Guthrie Age' to the 'genetic Age'

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2007 May 17

PMID 17505914

Citations 9

Authors

Jean-Louis Dhondt

Affiliations

Soon will be listed here.

Abstract

Newborn screening has 'traditionally' been performed to detect metabolic or endocrine diseases that are severe, frequent and treatable, according to criteria established in the late 1960s. Technological advances in laboratory testing over the past ten years open new possibilities. However, many new problems have to be explored before the establishment or expansion of a newborn screening programme. The purpose of this paper is to present some of the major problems that screening programmes will face in the near future.

Citing Articles

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.

Odenwald B, Brockow I, Hanauer M, Luders A, Nennstiel U Int J Neonatal Screen. 2023; 9(3).

PMID: 37489488 PMC: 10366861. DOI: 10.3390/ijns9030035.

Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

Zuvadelli J, Paci S, Salvatici E, Giorgetti F, Cefalo G, Dionigi A Nutrients. 2022; 14(19).

PMID: 36235790 PMC: 9572443. DOI: 10.3390/nu14194138.

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.

Ye J, Chen C, Yuan Y, Han L, Wang Y, Qiu W Sci Rep. 2018; 8(1):161.

PMID: 29317692 PMC: 5760544. DOI: 10.1038/s41598-017-18358-y.

National neonatal screening program for hemoglobinopathies: how far have we advanced?.

da Fonseca S Rev Bras Hematol Hemoter. 2014; 36(4):243-4.

PMID: 25031161 PMC: 4207923. DOI: 10.1016/j.bjhh.2014.05.012.

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.

Linden Phillips L, Bitner-Glindzicz M, Lench N, Steel K, Langford C, Dawson S Int J Audiol. 2012; 52(2):124-33.

PMID: 23131088 PMC: 3545543. DOI: 10.3109/14992027.2012.733424.

References

Pollitt R, Green A, McCabe C, Booth A, Cooper N, Leonard J . Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess. 1997; 1(7):i-iv, 1-202. View

Bickel H, Gerrard J, Hickmans E . Influence of phenylalanine intake on phenylketonuria. Lancet. 1953; 265(6790):812-3. DOI: 10.1016/s0140-6736(53)90473-5. View

Liebl B, Nennstiel-Ratzel U, Roscher A, von Kries R . Data required for the evaluation of newborn screening programmes. Eur J Pediatr. 2003; 162 Suppl 1:S57-61. DOI: 10.1007/s00431-003-1354-0. View

. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006; 8 Suppl 1:1S-252S. PMC: 3111605. DOI: 10.1097/01.gim.0000223891.82390.ad. View

Lee D, Rosenberg M, Peterson A, Makholm L, Hoffman G, Laessig R . Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program. J Pediatr. 2003; 142(6):617-23. DOI: 10.1067/mpd.2003.209. View

Farriaux J, Vidailhet M, Briard M, Belot V, Dhondt J . Neonatal screening for cystic fibrosis: France rises to the challenge. J Inherit Metab Dis. 2004; 26(8):729-44. DOI: 10.1023/B:BOLI.0000009921.42503.c2. View

Guthrie R . The origin of newborn screening. Screening. 1992; 1:5-15. DOI: 10.1016/0925-6164(92)90025-z. View

Li Y, Scott C, Chamoles N, Ghavami A, Pinto B, Turecek F . Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem. 2004; 50(10):1785-96. PMC: 3428798. DOI: 10.1373/clinchem.2004.035907. View

Gennaccaro M, Waisbren S, Marsden D . The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis. 2006; 28(6):819-24. DOI: 10.1007/s10545-005-0135-5. View

10.

Therrell Jr B . U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab. 2001; 74(1-2):64-74. DOI: 10.1006/mgme.2001.3238. View

11.

Levy H . Lessons from the past--looking to the future. Newborn screening. Pediatr Ann. 2003; 32(8):505-8. DOI: 10.3928/0090-4481-20030801-07. View

12.

Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S . Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess. 2004; 8(12):iii, 1-121. DOI: 10.3310/hta8120. View

13.

Simpson N, Anderson R, Sassi F, Pitman A, Lewis P, Tu K . The cost-effectiveness of neonatal screening for cystic fibrosis: an analysis of alternative scenarios using a decision model. Cost Eff Resour Alloc. 2005; 3:8. PMC: 1215498. DOI: 10.1186/1478-7547-3-8. View

14.

McCabe L, Therrell Jr B, McCabe E . Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol Genet Metab. 2002; 77(4):267-73. DOI: 10.1016/s1096-7192(02)00196-8. View

15.

Waisbren S, Albers S, Amato S, Ampola M, Brewster T, Demmer L . Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003; 290(19):2564-72. DOI: 10.1001/jama.290.19.2564. View

16.

Lewis S, Curnow L, Ross M, Massie J . Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. J Paediatr Child Health. 2006; 42(9):533-7. DOI: 10.1111/j.1440-1754.2006.00917.x. View