Neonatal Screening for Congenital Adrenal Hyperplasia Using a Microfilter Paper Method for 17-&amp;alpha;-Hydroxyprogesterone Radioimmunoassay

Cacciari, E; Balsamo, Antonio; Cassio, Alessandra; Piazzi, S.; Bernardi, Filippo; Salardi, S; Cicognani, Alessandro; Pirazzoli, Piero; Zappulla, F; Capelli, M.; Paolini, Moreno

doi:10.1159/000179479

Cited by 15 publications

(5 citation statements)

References 11 publications

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“…The feasibility of a reliable newborn screening programme for CAH utilizing the microfilter paper test for 17-OHP determination has been demonstrated by several groups (Cacciari et al, 1982;Pang et al, 1982;Riordan et al, 1984;Shimozawa et al, 1984;Solyom, 1981;Tsuji et al, 1983). The incidence of CAH in France has recently been estimated as 1 in 23 000 (Bois et al, 1985), a figure in agreement with that which we obtained in the metropolitan population (1 in 20 966).…”

Section: Discussionsupporting

confidence: 84%

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

Dhondt¹,

Dorche

Farriaux³

et al. 1986

J of Inher Metab Disea

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Congenital adrenal hyperplasia (CAH) due to a deficiency of 21-hydroxylase is the _most common inborn error of the adrenal steroid biosynthetic pathway. The considerable increase of 17ct-hydroxyprogesterone (17-OHP) in the serum of CAH patients has been shown to be already evident at the neonatal period (Chaussain et al., 1974). Consequently, radioimmunoassays have been developed to measure 17-OHP in dried blood samples and have made neonatal screening programmes possible.Two French regional centres for neonatal screening, Lille and Lyon, set up a pilot programme in 1981 to study the different problems raised by CAH mass screening. The present report summarizes the results of CAH screening in different populations and some technical improvements of the RIA determination of 17-OHP in dried blood samples. METHODCapillary blood samples were collected on the filter paper routinely used for the neonatal screening of phenylketonuria and congenital hypothyroidism, usually on the fifth day of life. 17-OHP was measured by two RIA methods developed in collaboration with Biomerieux (Marcy l'Etoile, France):Tritium method: 17-OHP was eluted from 6mm diameter discs with l mL of phosphate buffer for 30 min and then extracted with 5 mL of ethyl ether using a Sepex apparatus (Biomerieux). Organic phase separation was obtained by freezing the watery phase. The organic phase was evaporated under nitrogen. The extract was dissolved in 100/zL of buffer, then 100/xL of 3H-tracer and 100/zL of antiserum were added. After a 30 min incubation, at room temperature, separation of bound and free was achieved with dextran-charcoal.Iodine-125 method: 17-OHP was eluted from 3 mm diameter discs with 100/xL of phosphate buffer, lOOpL of 12SI-labelled 17-OHP and 100/zL of antiserum. After I hour at 37°C, the bound phase was separated using a further 30min incubation with a polyethyleneglycol second antibody mixture.

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Section: Discussionsupporting

confidence: 84%

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

Dhondt¹,

Dorche

Farriaux³

et al. 1986

J of Inher Metab Disea

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“…The elevation of 17-OHP in serum from CAH pa tients has been clearly established [2] and analysis of blood spot 17-OHP has been used for CAH-screening [4,6,7,11,12]. Ether extraction of free 17-OHP from the blood spots before radioimmunoassay is a drawback when large numbers of samples have to be processed.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Congenital Adrenal Hyperplasia Using 17-Hydroxyprogesterone Assay in Filter Paper Blood Spots

Larsson

Hagenfeldt

Döbeln³

et al. 1988

Horm Res

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Screening of infants for congenital adrenal hyperplasia (CAH) using filter paper blood samples collected on the 5th day of life was performed with a radioimmunoassay for 17-hydroxyprogesterone without extraction with organic solvents. A total of 153,000 newborns were screened and 12 cases of CAH were detected (1:12,800). With recall levels related to gestational age, the recall rate could be lowered to 0.05%.

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“…Visiting Fellow from Warszawa, Poland. mones and substances such äs "free thyroxine" (FT4) (3), 17-a-hydroxy-progesterone (4,5), ct-fetoprotein (6) and TBG (7).…”

Section: Introductionmentioning

confidence: 99%

Thyroxine Binding Globulin Radioimmunoassay in Dried Blood Spotted on Filter Paper

Torresani¹,

Krawczyńska²,

Illig³

1983

Clinical Chemistry and Laboratory Medicine

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Summary: A method is described for the determination of thyroxine binding globulin (TBG) in dried blood spotted on filter paper using reagents from a test kit for the measurement of TBG in plasma. By minor modifications of the recommended procedure it was possible to improve precision, sensitivity and tracer displacement. Appropriate TBG Standard samples were prepared in 'artificial blood' consisting of a Suspension of erythrocytes in buffer with bovine serum albumin (50 g/l). There is a good correlation between plasma TBG RIA fesults and blood spot TBG RIA results (r = 0.93). Attention must be paid to the stability of the TBG in blood: our experiments show a decrease of TBG content if filter paper cards with dried blood are stored longer than one month. Radioimmunoassay für Thyroxin bindendes Globulin in auf Filterpapier getrockneten BlutstropfenZusammenfassung: Es wird eine Methode zur Bestimmung des Thyroxin bindenden Globulins (TBG) aus getrockneten Blutstropfen unter Verwendung von Reagentien aus einer Test-Packung zur Messung von TBG im Plasma beschrieben. Durch leichte Modifikation des empfohlenen Vorgehens war es möglich, die Präzi-sion, die Empfindlichkeit und die Verdrängung des Tracers zu verbessern. Die TBG-Standard-Verdünnungen wurden in 'künstlichem Blut', das aus einer Suspension von Erythrocyten in Puffer mit Rinderserumalbumin (50 g/l) besteht, hergestellt. Zwischen den Resultaten des TBG-RIA für Plasma und des TBG-RIA im getrockneten Blutstropfen wurde eine gute Korrelation (r = 0.93) gefunden. Aufmerksamkeit sollte der Stabilität von TBG im getrockneten Blut geschenkt werden: unsere Versuche haben eine Abnahme der TBG-Konzentrationen gezeigi, wenn die Filterpapiere mit dem getrockneten Blut länger als einen Monat gelagert werden.

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Neonatal Screening for Congenital Adrenal Hyperplasia Using a Microfilter Paper Method for 17-α-Hydroxyprogesterone Radioimmunoassay

Cited by 15 publications

References 11 publications

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

Neonatal screening for congenital adrenal hyperplasia: a pilot study in France

Neonatal Screening for Congenital Adrenal Hyperplasia Using 17-Hydroxyprogesterone Assay in Filter Paper Blood Spots

Thyroxine Binding Globulin Radioimmunoassay in Dried Blood Spotted on Filter Paper

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