A tetralogy of Fallot associated with a stenotic pulmonary valve and agenesis of the ductus arteriosus in a 13-week-old fetus: The role of postmortem examination

摘要

Prenatal diagnosis at very early gestational age may disclose fetal anomalies, although this diagnosis is limited by lack of details on ultrasound (US) examination; hence, the importance of postmortem (PM) examination. We present a case of a 13-week-old fetus terminated as a result of significantly raised nuchal translucency, which additionally presented a tetralogy of Fallot with a stenotic pulmonary valve and agenesis of ductus arteriosus. These cardiac defects are not detected by US at this gestational age. On the other hand, PM examinations are being performed more frequently in these cases with the aid of a dissecting microscope and using delicate instruments. This case illustrates the need for a closer collaboration between fetal medicine and fetal pathology in order to reach a more accurate diagnosis, which provides the basis for adequate reproductive counseling.