Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies

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Abstract

Down syndrome (DS) is the most common chromosome abnormality among live-born infants and the most frequent genetic cause of intellectual disability. The majority of pregnancies affected by DS are terminated. The decision concerning whether or not to continue a pregnancy following the prenatal diagnosis of DS is complex and amongst others, motivated by attitudes towards termination, socioeconomic factors, and ultrasound findings. In Germany, termination of pregnancy (TOP) is a legal option, even during the later stages of gestation. The aim of the present study was to evaluate the pregnancy outcomes as well as possible factors that influence the decisions made by women with trisomy 21-affected pregnancies. In our study 112 pregnancies affected by trisomy 21 were included. Our data confirm that most patients are more likely to terminate a trisomy 21-affected pregnancy [76 (67.9%) vs. 36 (32.1%) continued pregnancies]. Beyond that we found that women who continued their pregnancy tended to be at an advanced stage in their pregnancy at the time of karyotyping. With regards to factors from their medical history as well as sonographic findings there was no identifiable single factor that could distinguish between women that opted to continue or terminate their pregnancy.

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