Læknablaðið - 15.07.1996, Blaðsíða 29

LÆKNABLAÐIÐ 1996; 82
521
Nýgengi og greining
miðtaugakerfisgalla hjá fóstrum og
nýburum á íslandi 1972-1991
Guörún Hreinsdóttir11, Reynir Tómas Geirsson1’, Jóhann Heiöar Jóhannsson2’, Hulda Hjartardóttir1),
Gunnlaugur Snædal1)
Hreinsdóttir G, Geirsson RT, Jóhannsson JH,
Hjartardóttir H, Snædal G
Prevalence and diagnosis of neural tube malfor-
mations in lceland 1972-1991
Læknablaðið 1996; 82: 521-7
Objective: The incidence and types of central
nervous system (CNS) defects diagnosed in fetuses
and newborns over a 20-year period, 1972-1991,
were investigated. Concurrently the effect of prena-
tal ultrasound screening on the rates of delivered
babies with neural tube defects were evaluated.
Material and method: All CNS defects diagnosed
in newborn babies and in miscarried or legally abort-
ed fetuses in Iceland during the study period were
searched for using the Icelandic Birth and Abortion
Registries. For ascertainment maternity case rec-
ords, hospital records and autopsy and pathology
reports were scrutinized. The number and types of
defects were noted for each year and the prevalence
evaluated for five- and 10-year periods as well as for
the time after introduction of organised obstetric
ultrasound screening.
Results: There was considerable yearly variation
in the incidence of CNS defects. In the first five-year
period no CNS defect was diagnosed prenatally, but
thereafter the number of cases diagnosed before
birth rose, partly because of improved identification
Frá '’Kvennadeild Landspítalans, 2,Rannsóknastofu Há-
skóla íslands í meinafræði. Fyrirspurnir, bréfaskipti: Reynir
Tómas Geirsson, Kvennadeild Landspítalans, 101 Reykja-
vík.
Lykilorð: Prenatal diagnosis, fetal diseases, neural tube
defects, central nervous system, ultrasonography.
of more subtle defects. In spite of an increase in the
number of cases to 2.2/1000 births, the incidence of
babies born with CNS defects was more than halved
to 0.8/1000 births. Organised nationwide ultrasound
screening in and after 1984 had a marked lowering
effect on the number of births with these defects. In
60% of cases the diagnosis was obtained before
birth, most often before 22 weeks gestation. Most
severe malformations were diagnosed, except for
spina bifida, where after 1984 only 40% were diag-
nosed early enough to allow termination of preg-
nancy.
Conclusion: The incidence of CNS defects has
risen, probably because of improved recognition of
these malformations during pregnancy and to some
extent after birth. Organised obstetric ultrasound
allowed diagnosis of most severe defects, although
1/3 of defects leading to severe handicap went undi-
agnosed until after birth, particularly in smaller hos-
pitals and health centers outside Reykjavik. Improv-
ing the diagnostic possibilities through training of
staff handling obstetric screening is important, but
the introduction of nationwide biochemical screen-
ing must also be considered.
Ágrip
Tilgangur: Nýgengi og tegundir miðtauga-
kerfisgalla sem greindust hjá fóstrum og nýbur-
um á 20 ára tímabilinu 1972-1991 voru könnuð.
Jafnframt voru athuguð áhrif skimunar með
ómskoðun á greiningu og tíðni þessara galla
hjá nýfæddum börnum.
Efniviður og aðferðir: Allir miðtaugakerfis-
gallar sem greindust hjá nýburum eða fóstrum
eftir síðkomin fósturlát eða fóstureyðingu voru
leitaðir uppi með athugun á fæðingartilkynn-
ingum og, eftir því sem við átti, mæðraskrám,
sjúkraskrám og gögnum um fóstureyðingar,