Fetal Diagnosis and Therapy

Giuseppe Macri P. · Tosto V. · Tsibizova V. · Meyyazhagan A. · Di Renzo G.C.

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Article / Publication Details Abstract

Introduction Prenatal screening programs are important component for pregnant women care and is 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 in early pregnancy. Discussion/Conclusion These programs are considered as routine clinical practice in many countries from last few years, and is necessary to assess the pros and cons of these programs. One of the prime con involves the likeliness of obtaining a false negative result due to lack of 100% sensitivity and specificity.

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