Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly

Objectives: Couples undergoing invasive prenatal diagnosis (PD) are informed and concerned mainly about autosomal trisomies. However, unexpected chromosomal abnormalities (UCA) are a frequent finding at PD. We have analysed the psychological and practical consequences in the couples counselled in our centre because of the identification of foetal UCA at PD. Methods: The study was carried out on a sample of 52 couples referred for genetic counselling in the period 1997-2000. The couples underwent a structured interview and two self-report instruments to measure anxiety and psychological characteristics. Results: The couples have been divided into three groups: (1) low risk - without or with negligible risk, (2) mild risk - with mild risk or mild clinical phenotype and (3) sex chromosome anomaly. All couples received the diagnosis of chromosomal anomaly from the obstetrician without any other comments and were referred to our service for genetic counselling. Most couples felt fear (11/17 in the LR group, 5/7 in the MR group and 12/21 in the SCA group), while sadness was lower frequently felt by those parents-to-be in the LR group. Conclusions: Our study suggests that a specific counselling that mentions the possibility of UCA is mandatory before PD, and the cost-benefit estimate of PD should take into account the psychological implications of UCA detection. (C) 2006 Elsevier Ireland Ltd. All rights reserved.