Abstract
ObjectivesTo evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia.Design and settingData about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated.Main outcome measuresThe primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia.ResultsDespite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses) carried out during that period was rising until 2002, since when it is stable at around 7%.ConclusionThe advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.
Highlights
IntroductionThe average maternal age is increasing in Europe since the late 1970s
Down’s syndrome (T21) is the most common aneuploidy compatible with life and the most common cause of congenital developmental delay and represents an important public health challenge [1,2].The average maternal age is increasing in Europe since the late 1970s
The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of trisomy 21 (T21)
Summary
The average maternal age is increasing in Europe since the late 1970s. An increasing number of newborn infants with T21 is expected, since the prevalence of T21 is associated with maternal age. Prenatal screening and termination of affected pregnancies could counteract this effect, this varies between countries depending on the policy, provision and uptake of prenatal screening [3,4,5]. Prenatal diagnosis of T21 and up-to-date information given by health-care providers in the process of non-directive counselling helps the parents to understand the condition. Medical professionals should provide necessary support during the prenatal diagnostic process and respect the autonomy of the parents and their informed decision about the pregnancy continuation or not [3,4,5]
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