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

Area of Science:

• Genetics
• Reproductive Medicine
• Prenatal Diagnosis

Background:

• Down syndrome (DS), the most common chromosomal abnormality and cause of intellectual disability, often leads to pregnancy termination.
• Decisions regarding continuing a pregnancy with DS involve complex factors including personal beliefs, socioeconomic status, and ultrasound results.
• Germany permits pregnancy termination (TOP) even in later stages of gestation.

Purpose of the Study:

• To evaluate pregnancy outcomes in trisomy 21-affected pregnancies.
• To identify factors influencing the decision to continue or terminate a pregnancy diagnosed with trisomy 21.

Main Methods:

• Retrospective analysis of 112 pregnancies with trisomy 21.
• Review of medical history and sonographic findings.
• Comparison of characteristics between women who continued versus terminated their pregnancies.

Main Results:

• A significant majority of women (67.9%) terminated their trisomy 21-affected pregnancies.
• Women who continued their pregnancies were more likely to undergo karyotyping at a later gestational stage.
• No specific medical history or sonographic finding consistently differentiated between continuation and termination decisions.

Conclusions:

• The decision to continue or terminate a trisomy 21 pregnancy is multifaceted.
• Gestational age at karyotyping may be associated with pregnancy continuation.
• Further research is needed to understand the complex interplay of factors influencing these critical decisions.