Prenatal diagnosis of hereditary pathology: to terminate or to prolong pregnancy

Abstract

Prenatal diagnosis using molecular genetic technologies is crucial for early detection of genetic abnormalities but faces medical and ethical challenges, including limited information on hereditary diseases and therapeutic options, forcing families to choose between terminating or continuing pregnancy. This study presents a case of non-immune hydrops fetalis (NIHF) diagnosed at 27 weeks. Amnioreduction at 28 weeks and 5 days was followed by NGS, revealing a PTPN11 variant linked to RASopathies (Noonan and LEOPARD syndromes). Placental abruption at 31 weeks led to perinatal death. The patient declined further testing, citing a healthy child. The case highlights the emotional and diagnostic complexities of prenatal care, emphasizing the need for improved patient education and expanded therapeutic options.