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    Neonatale screening op het adrenogenitaal syndroom (AGS), 1998-2001

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    Authors
    Stikkelbroeck MML
    Kamp HJ van der
    Projectgroep AGS-screening
    Series/Report no.
    RIVM Rapport 199003063
    Type
    Report
    Language
    nl
    
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    Title
    Neonatale screening op het adrenogenitaal syndroom (AGS), 1998-2001
    Translated Title
    Neonatal screening for congenital adrenal hyperplasia
    Publiekssamenvatting
    Objectives: To evaluate the feasibility of newborn screening on congenital adrenal hyperplasia (CAH) in the Netherlands and possibilities for incorporation into the existing screening programme on congenital hyperplasia (CH) and phenylketonuria (PKU). To determine the sensitivity, specificity and prevalence of CAH. Methods: A 24 year pilot screening programme started on 1 January 1998 in 2 out of the 5 regions (45% of a total 200,000 newborns per year). With AutoDelfia,17alpha-OHP was measured in dried blood spots in the same heelstick sample as for CH/PKU-screening taken on day 4-7 after birth (day 0). Cut-off levels in 1998 were primarily based on birth weight and from 1 January 1999 on gestational age; the minimum cut-off level in 1998 was 60 nmol/l serum and from 1 January 1999, 80 nmol/l serum. All newly diagnosed CAH patients were reported to the Dutch Paediatric Surveillance Unit to detect false negatives and to determine the prevalence in the region with and without screening. Results: Intra- and interassay variance with the AutoDelfia method was (221,418 newborns, 18 patients: 9F,9M) and without screening (281,166 newborns, 25 patients:12F,13M) was 1:12,301 and 1:11,247, respectively. Sensitivity was 100%, specificity 99.9% and positive predictive value 6.2%. Three out of the 9 females and all males with CAH in the screening region were clinically not suspected. All CAH patients in the region with screening were treated before severe salt wasting was apparent (sodium:133.6 plus or minus 3.2 mmol/l serum; mean plus or minus SD), while in the region without screening most patients had severe hyponatraemia (sodium: 119.9 plus or minus 10.5 mmol/l serum; mean plus or minus SD). The mean period of hospitalization for male patients detected through screening was 6 days less than for male patients in the region without screening. Conclusion: Screening on CAH in the Netherlands is effective and can be incorporated into the existing screening programme for CH/PKU.
    Het doel van deze studie was te onderzoeken of neonatale screening op adrenogenitaal syndroom (AGS) in Nederland haalbaar was en of dit kon worden ingepast in de bestaande screeningsprogramma's voor congenitale hypothyreoidie (CHT) en phenylketonurie (PKU), en verder om de prevalentie van AGS en de sensitiviteit en specificiteit van de gebruikte methode vast te stellen. Op 1 januari 1998 werd met financiele ondersteuning van ZonMw een tweejarig pilotonderzoek gestart in twee van de vijf screeningsregio's, waarbij iets minder dan de helft van alle pasgeborenen gescreend werden. De concentratie van het steroid 17alpha-hydroxyprogesteron werd gemeten in de monsters hielprikbloed, afgenomen voor de CHT/PKU screening. De afkapgrenzen waren in 1998 gebaseerd op het geboortegewicht, en vanaf 1999 op de zwangerschapsduur. Om fout-negatieve resultaten op te sporen en om de prevalentie van AGS vast te stellen in de screeningsregio en de controle regio werden alle kinderartsen verzocht om ziektegevallen te melden aan het Nederlands Signaleringscentrum Kindergeneeskunde (NSCK). De gebruikte meetmethode kende een binnen- en tussenmeetsessiespreiding van ca. 10 %. De prevalentie in de screeningsregio (221.418 pasgeborenen, 18 patienten; 9F,9M) was 1:12301 en in de controle regio (281.166 pasgeborenen, 25 patienten:12F,13M) 1:11247. De sensitiviteit was 100%, specificiteit 99.9% en positief voorspellende waarde 6.2%. Drie van de 9 meisjes en alle jongens waren klinisch niet verdacht. Alle AGS-patienten in de screeningsregio konden worden behandeld voordat de zoutcrisis intrad (natrium:133.6 plus of min 3.2 mmol/l serum) terwijl in de controle regio de meeste patienten ernstige hyponatrienemie vertoonden (natrium: 119.9 plus of min 10.5 mmol/l serum). Ook de opnameduur in het ziekenhuis was voor jongens in de screeningsregio gemiddeld 6 dagen korter. Op basis van deze gunstige resultaten van het pilotonderzoek werd door het Ministerie van VWS besloten om de proefscreening uit te breiden tot het gehele land gedurende 2 jaar, d.w.z. 2000 en 2001. Door aanloopproblemen met de financiering via het College van Zorgverzekeringen kon deze uitbreiding echter pas per 1 juli 2000 worden geeffectueerd. Nadat ook deze periode succesvol was afgesloten heeft de Minister van VWS besloten om de screening op AGS per 1 januari 2002 in het reguliere neonatale screeningprogramma op te nemen.
    Publisher
    Rijksinstituut voor Volksgezondheid en Milieu RIVM
    URI
    http://hdl.handle.net/10029/9152
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