*Hyperphenylalaninemia

Phenylalanine concentrations ([phe]) are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes ...

*Galactose-1-phosphate uridylyltransferase

Screening has mostly eliminated neonatal death by G/G galactosemia, but the disease, due to GALT's role in the biochemical ... These two mutations also add new restriction enzyme cut sites, which enable detection by and large-scale population screening ... new assays to increase the sensitivity and specificity of newborn screening for galactosemia". J Mol Diagn. 5 (1): 42-7. doi: ... are consistent with residues that have been implicated both in point mutation experiments as well as in clinical screening that ...

*Universal neonatal hearing screening

Targeted neonatal hearing screening describes the process by which only a specific subset of a population are screened (for ... "NHS Newborn Hearing Screening Programme Home Page". screening.nhs.uk. "Universal Newborn Hearing Screening Programme". nsu.govt ... Universal newborn hearing screening programmes aim to have high coverage rates (participation) and many aim to screen babies by ... Typically a two-stage process occurs in the actual screening of the hearing. Children are screened with either OAE's or AABR. ...

*Blood type

... neonatal screening (2nd ed.). Oxford University Press. ISBN 978-0-19-262826-8. Daniels G, Finning K, Martin P, Summers J ( ... If a potential donor is found to have anti-D antibodies or any strong atypical blood group antibody by antibody screening in ...

*AutoAnalyzer

... s are still used for a few clinical applications such as neonatal screening or Anti-D, but the majority of ... the SPOTCHECK Analyzer for Neonatal screening; and FASPac (Flow Analysis Software Package) for data acquisition and computer ...

*African admixture in Europe

January 2009). "Neonatal screening for sickle cell disease in France". J. Clin. Pathol. 62 (1): 31-3. doi:10.1136/jcp. ... Indeed, 60% of all newborns in this area in 2010 had parents originated from a region defined as "at-risk" and were screened ... and were screened for SCD. The Paris metropolitan district (Île-de-France) is the region that accounts for the largest number ...

*Homocystinuria

Many neonatal screening programs include methionine as a metabolite. The disorder may be distinguished from the re-methylation ...

*Dried blood spot

Neonatal screening for phenylketonuria became nationwide in 1969-70. Since then, Guthrie card samples have been collected ... The limitations of sensitivity and specificity when screening such small volumes of blood restricted the use of dried blood ... could be used to screen for metabolic diseases in large populations of neonates was introduced in Scotland by Robert Guthrie in ... routinely from infants in over 20 countries to screen for phenylketonuria and more recently for congenital hypothyroidism, ...

*Sanfilippo syndrome

Neonatal screening programs would provide the earliest possible diagnosis. The flavonoid genistein decreases the pathological ...

*IGSF1

Tajima T, Nakamura A, Morikawa S, Ishizu K (Sep 2014). "Neonatal screening and a new cause of congenital central hypothyroidism ... Most affected males are discovered through neonatal screening for hypothyroidism. The extent of hypothyroidism is variable, but ...

*Ahmad Teebi

Teebi founded the first Arab neonatal screening program in Kuwait. He also greatly advanced the activities of Kuwait Medical ...

*Audiology and hearing health professionals in developed and developing countries

Watkin, P. M., Baldwin, M., & McEnery, G. (1991). Neonatal at risk screening and the identification of deafness. Archives of ... A targeted screening approach limits the screenings to babies who exhibit some risk factors for hearing loss. Risk factors for ... Watkin, P. M. (2001, December). Neonatal screening for hearing impairment. In Seminars in Neonatology, 6(6), pp. 501-509. ... Kennedy, C., Kimm, L., Thornton, R., & Davis, A. (2000). False positives in universal neonatal screening for permanent ...

*Nicholas Wald

Wald wrote Antenatal and Neonatal Screening. The book won the Public Health Category of the 2001 BMA Medical Book Competition. ... His main research has been in antenatal screening of pregnant women for congenital malformations. In the 1970s, he showed that ... He is "widely considered one of the world's leading epidemiologists and neonatal health experts" and, together with Malcolm Law ... This was the first example of screening for fetal abnormalities.[citation needed] With epidemiologist Ian Leck, ...

*Biotin deficiency

László A, Schuler EA, Sallay E, Endreffy E, Somogyi C, Várkonyi A, Havass Z, Jansen KP, Wolf B (2003). "Neonatal screening for ... Schulpis KH, Gavrili S, Tjamouranis J, Karikas GA, Kapiki A, Costalos C (May 2003). "The effect of neonatal jaundice on ... relevance of newborn screening". Dev Med Child Neurol. 46 (7): 481-4. doi:10.1111/j.1469-8749.2004.tb00509.x. PMID 15230462. ... "Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations". Braz. J. Med. Biol. Res. ...

*Histidinemia

In Japan, neonatal screening was previously performed on infants within 1 month of birth; infants demonstrating a blood ... leading to a reduction in the prevalence of neonatal screening procedures. Histidinemia is considered benign as most patients ... 12,000 observed in the neonatal screening of over 20 million newborns. Prolinemia Sarcosinemia Tyrosinemia Taylor RG, Levi HL, ... However, neonatal urine testing has been discontinued in most places, with the exception of Quebec. It has been suggested that ...

*Argininosuccinic aciduria

Bachmann, Claude (2003-11-21). "Long-term outcome of patients with urea cycle disorders and the question of neonatal screening ... Newborn screening for ASA is available in the U.S. and parts of Australia, and is considered in several European countries< ... Wilcken B, Smith A, Brown DA (1980). "Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up ... Full text Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S (2001). "Detection of neonatal ...

*Iodotyrosine deiodinase

New England congenital hypothyroidism collaborative (November 1981). "Effects of neonatal screening for hypothyroidism: ...

*Sankara Eye Hospital

Meaning welcome in Sanskrit, this Programme is a comprehensive Neonatal screening Programme for the new born. Children born ... Preterm infants are screened for ROP (Retinopathy of Prematurity). The Paediatric Ophthalmology team is equipped and trained to ... This program screens children attending the Integrated Child Development Centres (noon meal centres), orphanages and thereafter ... As a matter of procedure, all patients are screened for Glaucoma / possible Glaucoma, as timely intervention is crucial to its ...

*Cystic fibrosis

"Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years". American Journal ... Due to these false positives, CF screening in newborns can be controversial. Most U.S. states and countries do not screen for ... Screening of infants at birth takes place in some areas of the world. There is no known cure for cystic fibrosis. Lung ... "Carrier Screening in the Age of Genomic Medicine - ACOG". www.acog.org. Archived from the original on 25 February 2017. ...

*Elizabeth Anionwu

1996: (with L. Laird, C. Dezateux) "Neonatal screening for sickle cell disorders: what about the carrier infants?" British ... 1983: "Sickle Cell Disease: Screening & counseling in the antenatal and neonatal period". Midwife, Health Visitor & Community ... 2001: "Screening and Genetic Counseling in Sickle Cell Disease". Archives of Ibadan Medicine, Vol. 2, No. 2, pp. 54-56. 2002: " ... Thalassemia Screening Program Steering Group Honorary Advisor to the Chief Nursing Officer's Black & Minority Ethnic Advisory ...

*François Delange

Delange also performed research for neonatal screening for congenital hypothyroidism, using TSH levels as a marker for ... He performed field studies on goiter prevalence worldwide and performed pioneering research in early screening for congenital ...

*Saskatchewan Disease Control Laboratory

... influenza and neonatal screening program. The laboratory also supports the biosafety and biohazard spill response programs for ...

*Li-Fraumeni syndrome

July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood ... Adults undergo routine screening for colorectal cancer beginning no later than age 25 years Individuals undergo organ targeted ... early and regular screenings for cancer are recommended for him or her as people with Li-Fraumeni are likely to develop another ... A 2009 revision of the traditional Chompret criteria for screening has been proposed: A proband who has: tumor belonging to the ...

*Spinal muscular atrophy

Routine prenatal or neonatal screening for SMA is controversial, because of the cost, and because of the severity of the ... The major argument for neonatal screening is that in SMA type I, there is a critical time period in which to initiate therapies ... "Carrier Screening in the Age of Genomic Medicine - ACOG". www.acog.org. Retrieved 24 February 2017. Little, S. E.; Janakiraman ... "Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005-2009: A Prospective ...

*Malonyl-CoA decarboxylase

MCS deficiency is a rare autosomal disorder that is widely diagnosed by neonatal screening and it is caused by mutations in ...

*Human milk bank

The foundation has set aside S$1.37 million (US$1 million) for the milk bank, which will collect, screen, process and store ... Hospital neonatal intensive care unit (NSW); Mothers Milk Bank Pty Ltd (a private charity, previously located on the Gold Coast ... A human milk bank or breast milk bank is a service which collects, screens, processes, and dispenses by prescription human milk ... commenced November 2012 at the RBWH Grantley Stable Neonatal Unit). Mother's milk bank. Biorisk International Breast Milk ...

*Hemolytic disease of the newborn (anti-RhE)

... neonatal screening (second edition). Chapter 12: Rhesus and other haemolytic diseases, by E.A. Letsky, I. Leck, J.M. Bowman. ... The hemolytic process can result in anemia, hyperbilirubinemia, neonatal thrombocytopenia, and neonatal neutropenia. With the ... Newborn Screening Tests - Transfusion with donor blood during pregnancy or shortly after birth can affect the results of the ... Blair, Eve; Watson, Linda (2006). "Epidemiology of cerebral palsy". Seminars in Fetal and Neonatal Medicine. 11 (2): 117-25. ...