Parental Psychological Distress of Missed Diagnosis of Down Syndrome at Antenatal Screening: A Rare, but Still Real Occurrence – A Case Report and Review of Literature

Abstract

Introduction: Prenatal screening programs are important components for pregnant women care and are often linked with grief and shock based on gestational age or the diagnosis. Lower/no sensitivity is also associated with these screening programs leading to providing false-negative outputs. Case Presentation: Present work shows a case of missed antenatal diagnosis of Down syndrome and its persistant medical and psychological impact on the family members. We have also discussed the relevant economic and medical-legal issues related to the context and aimed to maintain an adequate awareness among healthcare to discuss properly these investigations (difference between screening and diagnostic testing), their possible outcome (chances of false results) and enabled the pregnant women/couple to take informed decision on early pregnancy. Conclusion: These programs are considered as routine clinical practice in many countries from last few years and are necessary to assess the pros and cons of these programs. One of the prime cons involves the likeliness of obtaining a false-negative result due to lack of 100% sensitivity and specificity.