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

## TL;DR

This study shows that a small jaw (micrognathia) seen on prenatal ultrasound can help identify Edwards syndrome early in pregnancy.

## Contribution

The study confirms micrognathia as a reliable prenatal ultrasound marker for trisomy 18 through a case series.

## Key findings

- Micrognathia was consistently observed in five confirmed cases of trisomy 18.
- The jaw index and inferior facial angle were key ultrasound measurements used for diagnosis.
- Early detection through ultrasound aids in parental counseling and pregnancy management.

## 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.