Fetal Dysmorphology

Abstract

Examination of the fetus with congenital anomalies is essential to identify the nature of the defects and determine if they constitute a part of a recognized abnormality of development and morphogenesis. A structured approach, including a comprehensive history and details of the anomalies present, assists in making a definitive diagnosis. Dysmorphic diagnosis in the fetus is a challenge as the complete phenotype may not be manifested, coupled with the possibility of subtle dysmorphism that is difficult to recognize. Correlation of the antenatal scan findings with those at autopsy, combined with the experienced eye of a clinical geneticist, is helpful in making a syndrome diagnosis. Specialized databases, reference textbooks, and previously published malformation syndromes are important aids for the geneticist. An accurate diagnosis is important to counsel families of the prognosis, available treatment options, and recurrence risks in future conceptions. New technologies for genetic testing are available to confirm a syndrome diagnosis and consequently, it is vital that appropriate fetal samples are stored in all cases. A team approach with expert input from a fetal medicine specialist, perinatal pathologist, geneticist, radiologist, and the genetics laboratory are important components of fetal dysmorphic syndrome identification.

Keywords

Fetus - Malformation - Dysmorphism - Syndrome - Autopsy

Publication History

Received: 27 July 2015

Accepted: 07 October 2015

Article published online:
08 May 2023