Micrognathia as a Diagnosis Marker for the Prenatal Identification of Edwards Syndrome

Abstract

Background/Objectives: Edwards syndrome, or trisomy 18, is a severe chromosomal disorder marked by numerous congenital anomalies, including micrognathia. This study evaluated the diagnostic significance of micrognathia as a prenatal indicator for trisomy 18 through a case series involving five confirmed instances. Methods: Ultrasound assessments concentrated on the inferior facial angle (IFA) and the jaw index, supplemented by Non-Invasive Prenatal Testing (NIPT) and karyotyping. Results: Micrognathia was consistently identified alongside other anomalies, reinforcing its reliability as an ultrasound marker for trisomy 18. Conclusions: The findings highlight the critical nature of early detection for informed parental counseling and effective pregnancy management.