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PubMedDate not supplied

Multiple neonatal screening for aminoacidopathies by ion exchange chromatography.

The experience gained in a pilot programme for multiple screening for amino acid disorders is reported. Over 222,000 newborn infants were screened by ion-exchange chromatography using dried blood spots. The acceptability, reliability and validity of the method are reported, and an outline is given, of the field evaluation of the method over 4 years, together with a short cost analysis. Incidences of the screened diseases and their differences from other reports are also discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria.

A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine, tyrosine and phenylalanine, eluted from a single spot and separated by column chromatography, are measured, using whole blood adsorbed on filter paper. CH is detected by RIA assay of TSH eluted from dried blood spot. A cut-off of 100 microU/ml for TSH is used providing a recall rate of 0.38%. Out of 116,000 newborn infants screened for aminoacidopathies (since 1974), 16 PKU patients, 3 affected by MSUD, 2 homocystinuric babies have been detected. Out of 25,400 newborn infants screened for CH, 5 patients were affected by permanent CH and 29 by transient hyperthyrotropinemia. Thus PKU shows a frequency of 1:7,200 newborn infants, and permanent congenital hypothyroidism 1:5,080. The coordination of screening programs for congenital metabolic diseases in a single central unit allows:--the unification of the input of samples and output of data in a single data bank;--a minimization of the physical and psychological stress to the patients and their families;--and a more satisfactory cost/benefit ratio.

Amino Acids↗
PubMedDate not supplied

Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator.

UNLABELLED: Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the entire coding region for the cystic fibrosis transmembrane conductance regulator (CFTR) in newborns, especially premature infants. Cell samples were taken by scraping the buccal mucus with tiny dental brushes, followed by DNA isolation and mutation analysis using SSCP-heteroduplex (single-strand conformation polymorphism) screening and sequencing. We have demonstrated that buccal cell DNA collected from premature and term newborns yields sufficient DNA (at least 60 ng) to perform a mutation screening of the complete CFTR coding region, independently of the patients' weight (mean 2200 g) or gestational age (mean 35 weeks). The high stability of the samples at room temperature admits the possibility of dry shipment of samples collected elsewhere to the diagnostic laboratory. CONCLUSION: This fast, non-invasive sampling and DNA isolation method allows for early diagnosis of CF, initiation of therapy and minimisation of parental uncertainty and offers a technique for mutation analysis in any other monogenic disorder.

Cheek↗
PubMed1990

Simultaneous high-performance liquid chromatographic determination of amino acids in a dried blood spot as a neonatal screening test.

A new screening test on dried blood spots for inherited disorders of amino acid metabolism using reversed-phase high-performance liquid chromatography (RP-HPLC) is described. The method allows the simultaneous analysis of fourteen different amino acids; among these, seven whose blood levels are increased in the most important amino acid disorders have been determined. The procedure requires a preliminary extraction of the amino acids from 9-mm autoclaved dried blood spots by sonication in phosphate-buffered saline. A precolumn o-phthaldialdehyde-3-mercaptopropionic acid derivatization is then followed by analysis of the amino acids by RP-HPLC. Blood-spots levels of histidine (His), tyrosine (Tyr), valine (Val), methionine (Met), isoleucine (Ile), phenylalanine (Phe) and leucine (Leu) can be determined in a single 15-min run, including column washing and regeneration. The minimum detectable amount of each amino acid is 0.5 pmol with a linear dose-response range between 1 and 10 microM. The recovery for all amino acids is greater than 70% except for Met (66%). Up to 20,000 samples/year can be processed on a single automated analytical line resulting in an estimated cost of about US$ 0.25/sample. The multiple diagnostic capacity, the low cost and the possibility of complete automation of the method make it suitable for primary perinatal screening of amino acid disorders.

Amino Acid Metabolism, Inborn Errors↗