A Woman with a Positive Prenatal Test on Trisomy 21: Counseling in Prenatal Diagnosis

Trisomy 21 is the most prevalent numeric or structural chromosomal aberration. Nowadays, prenatal tests for screening and diagnosing trisomy 21, as well as some other chromosomal aberrations, exist. The existence of prenatal tests allows, but at the same time forces, pregnant women to make decisions and choices. Ethically delicate questions arise such as the value of unborn life, the value of a life of a child with a mental handicap, and the consideration about pros and cons regarding the impact on the parents’ life. The complexity of the situation affords comprehensive information and counseling by health professionals previous to any prenatal testing, but especially when a chromosomal aberration or major fetal malformation is suspected or diagnosed. The decision whether to terminate pregnancy or not is very much dependent on the individual evaluation of the couples concerned. A nonjudgmental and nondirective approach especially during the shared decision-making process is of utmost importance. Thereafter, health professionals are confronted with the challenging task to provide support and meet the specific needs of those couples that decide to terminate and those that carry out pregnancy. This support should include not only follow-up visits after delivery but also special care during a next pregnancy, which is generally experienced as highly stressful.