[Prenatal diagnosis of trisomy 21: Influence of pediatric counseling of pregnant women and contact with families who have an affected child].

Abstract

The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.Fully anonymized data on pediatric counseling for 251 pregnant women with unclear NIPT findings, suspected or confirmed fetal trisomy 21 were evaluated retrospectively. All consultations on the subject of trisomy 21 in this cohort were conducted by the same experienced pediatrician, who only ended the consultation when the women seeking advice had no more questions and always offered to put them in direct contact with families that include a child affected by trisomy 21. Contact with such families and the outcome of the pregnancy were recorded in each case. Data were analyzed using methods of descriptive statistics and appropriate statistical tests. In particular, the timing of the pediatric consultation, its duration, and contact with families who have an affected child appeared to be relevant to the pregnant women's decision to continue or terminate the pregnancy.If fetal trisomy 21 is suspected, prompt and detailed pediatric counseling and contact with affected individuals are crucial.