Authors: Alison Carameros, Carisma Cherukuri, Viviana Crespo, Khushbu Shah, Manmeet
Kaur Singh, Ruby Zhao
Obstetrics and Gynecology Interest Group, American University of the Caribbean School of Medicine, Cupecoy, Sint Maarten
RASA1 is a gene that codes for p120-RasGAP protein and is crucial for development for cell growth and vascular development. The p120-RasGAP protein is associated with autosomal dominant capillary-arteriovenous malformations and can possibly present with hydrops fetalis and chylothorax without any vascular malformations in late preterm pregnancies. Additional research in the RASA1 gene, and its’ variants is significant because miscarriages represent 1% of pregnancies and RASA1 could potentially be responsible for certain miscarriages. Not only does additional research in the RASA1 variants shed light on potential miscarriages but RASA1 signaling pathways might offer novel targets for treatment of high-flow vascular anomalies in the population. If future research shows that RASA1 plays a part in late preterm miscarriages, RASA1 variant screening could be added onto genetic counseling for expecting mothers. Currently, there is not enough research on the RASA1 variants to definitively rule it out as a cause of possible miscarriages
A 30-year-old female currently undergoing a high-risk pregnancy presents with a history of multiple miscarriages, one deceased son with non-immune Hydrops Fetalis, and 2 past successful pregnancies. The deceased son was her 3rd pregnancy and had massive pulmonary hemorrhage/hemothorax secondary to non-immune hydrops fetalis and bilateral chylothorax 36 hours after birth which led to expiration. During the newborn’s post-mortem autopsy, whole exome sequencing revealed a variant and uncertain significance in the RASA1 gene. The patient also had the same variant in the RASA1 gene. For this specific patient, her physicians will be monitoring her current and future pregnancies as well as by a high-risk OB/GYN.