Changes in the Detection and Management of Foetal Trisomies over Time

Abstract

Introduction This study investigates whether the time of diagnosis of foetal trisomy 21/18/13 and the frequency of termination of pregnancy have changed in the past 10 years.

Material and Methods Retrospective study at the Tübingen University Centre for Womenʼs Health in which the cases with ante- and postnatal diagnosis of trisomy were investigated. A prerequisite was that the patients be examined in the antenatal medicine department. The time of diagnosis, the frequency of termination of pregnancy and the gestational age in the case of a termination were assessed.

Results Between 2007 and 2017, trisomy 21/18/13 was diagnosed in 498 foetuses and newborns. In 311 of the foetuses or newborns, trisomy 21 was identified; in 134, trisomy 18; and in 53, trisomy 13. The median gestational age at diagnosis in the case of foetuses with trisomy 21 was between 14.4 and 13.6 weeks of pregnancy. The rate of pregnancy terminations increased slightly from 66.7% between 2007 and 2010 to 75.5% between 2015 and 2017. The median gestational age at the time of termination remained constant at 14.9 and 15.0 weeks of pregnancy respectively. The median gestational age at diagnosis in the case of foetuses with trisomy 18/13 was between 13.6 and 14.6 weeks of pregnancy during the examination period. The percentages of affected pregnancies which were terminated in the three time periods increased slightly from 57.4 to 69.0%. The gestational age remained unchanged in this case at 15.0 and 15.1 weeks of pregnancy respectively.

Conclusion The time of intrauterine diagnosis of trisomy 21/18/13 has not changed in the past 10 years. The frequency of termination of a pregnancy increased slightly and the time of termination remained unchanged.

Key words

trisomy - cell-free DNA - first trimester screening - termination of pregnancy

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