J. Gerard Loeber
National Institute for Public Health (RIVM), Bilthoven, The Netherlands
Vyšlo v časopise:
Čes-slov Pediat 2009; 64 (4): 159-161.
Neonatal screening originated in the USA around 1960 and
found its way over the globe in the ensuing years, first in New
Zealand, Australia, Japan and in western Europe, and followed between
1970 and 1980 by other European countries and some in Latin America.
After 1980 pilot programmes were started in a large number of
countries in Asia and the rest of Latin America. At present,
screening is available in North America, Australia/New Zealand and
Europe, but still in its early phases in a number of countries
in Latin America and Asia, and hardly at all in Africa. On average
only around 25 % of the worlds newborn infants is screened at all.
What about the present situation in Europe?
Geographical Europe is bordered by the Atlantic Ocean in
the West, the Mediterranean Sea in the South and the Ural Mountains
and Caspian See in the East, but political Europe, i.e. the
member states of the Council of Europe, includes Turkey, Armenia and
Azerbaijan and of course the Asian part of Russia, in total 46
With respect to neonatal screening coverage Europe is
doing reasonably well, with a coverage of around 80%. In
a number of Eastern European countries the coverage is lagging
behind, e.g. in Romania but especially in Turkey, which has one of
the largest populations.
Besides coverage another interesting marker is the scope
of each screening programme. In almost all countries screening
started with phenylketonuria , because the methodology was
relatively cheap, closely followed by the screening for congenital
hypothyroidism . The way in which other conditions have been added
and the reasoning behind it differs very much from country to country
[3, 4]. Factors as prevalence and available methodology played
a major role, but quite often also the personal interest of
leading professionals for a certain condition or group of
conditions seemed to be involved.
Table 1 shows per country the
starting year for screening for certain conditions. However, not all
infants in a country are screened for all conditions in the
table. This is caused by the fact that in many countries there is no,
or only a partly, defined national programme, but instead
individual screening centres determine what list of conditions they
elect to screen for.
An important determinant is the availability of funding.
In the last decade the introduction of tandem mass spectrometry has
made the expansion of the scope of the programmes rapidly possible.
However, this technique is expensive and not all countries can afford
it. On the other hand, in some countries there is pressure from the
population to have the screening programme started or expanded
irrespective of cost and the acquisition of perhaps unwanted health
At present, the European screening map looks like
a random patchwork.
Not so long ago, this was also the case for the USA.
Some years back, the American College of Medical Genetics undertook
a study how to harmonise the state’s screening programmes and
developed a questionnaire in which around 80 known conditions
were discussed and scored. The result was a list of 29
conditions that ACMG recommended to all states to screen for . It
seems logical to use a similar approach in Europe based on the
ACMG model. In view of the large differences concerning language,
culture, ethics, history and health care structures this will be
a time-consuming and complicated enterprise, but very worth the
The International Society for Neonatal Screening (ISNS)
may be instrumental in bringing together experts to exchange views
and opinions, aided by the development of global information
databases. During the last decade ISNS started organising scientific
meetings in Europe, first as small scale workshops by invitation
(Königstein, Germany, 2001; Pultusk, Poland, 2003; Sevilla,
Spain, 2004), followed by open conferences (Paris, France, 2005;
Reykjavik, Iceland, 2007), culminating in the present meeting in
Prague, Czech Republic, 2009. Apart from condition-related reports,
a major part of the meeting will concern the discussion on how
to harmonise the European screening programmes, based on the
experience of colleagues from the US. The role of parents and
advocacy groups in this process is of great importance.
1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32: 338–343.
2. Dussault JH, Coulombe P, Laberge C, Letarte J, Guyda H, Khoury K. Preliminary report on a mass screening program for neonatal hypothyroidism. J. Pediatr. 1975;86: 670–674.
3. Loeber JG. Neonatal screening in Europe; the situation in 2004. J. Inherit. Metab. Dis. 2007;30: 430–438.
4. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J. Inherit. Metab. Dis. 2007;30: 439–444.
5. Watson M, Mann MY, Lloyd-Puryear MA, et al. Newborn screening: toward a uniform screening panel and system – executive summary. Pediatrics 2006;117: S296–S307.
Praktické lékařství pro děti a dorost