Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution.

Background: Many infants in the neonatal intensive care unit (NICU) have genetic disorders or birth defects. The demand for genetic services is often complicated by a shortage of genetic providers.

Problem: Our hospital experienced a significant reduction in genetic workforce, leading to insufficient genetic services to meet demand.