Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in .

Congenital anomalies affect 3% to 5% of births and remain the leading cause of infant death in the United States. As whole exome and genome sequencing are increasingly used to diagnose underlying genetic disease, the patient's clinical presentation remains the most important context for interpreting sequencing results, including frequently reported variants of uncertain significance (VUS). Classification of a variant as VUS acknowledges limits on evidence to establish whether a variant can be classified as pathogenic or benign according to the American College of Medical Genetics guidelines.

Perinatal management of gastroschisis: analysis of a newly established clinical pathway.

Purpose: The authors developed a clinical pathway for optimal management after antenatal diagnosis of gastroschisis. This is the outcomes analysis of our first 30 consecutive patients.

Method: Antenatal counseling was provided for all families with in-utero diagnosis of gastroschisis.