Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

ABSTRACT:

Objectives

To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia.

Design and setting

Data 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 measures

The 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.

Results

Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in

SUBMITTER: Rudolf G 

PROVIDER: S-EPMC5493396 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature