Date of Award


Document Type

Open Access Thesis

Degree Name

Medical Doctor (MD)



First Advisor

Robert Elder


ASSOCIATIONS BETWEEN CARDIAC MANIFESTATIONS OF NOONAN SYNDROME AND ADVERSE PREGNANCY OUTCOMESChristopher Chow, Katherine Campbell, and Robert Elder Yale University School of Medicine, New Haven, CT The goal of this study was to characterize a population of woman with Noonan syndrome who had been pregnant in order to determine the safety and feasibility of pregnancy. We performed a retrospective chart review of patients evaluated at Yale-New Haven Hospital from 2012-2020 with a diagnosis of Noonan syndrome and pregnancy. We identified 5 women with Noonan syndrome who had a total of 10 pregnancies. In terms of maternal cardiac disease, 3/5 patients had mild pulmonary valve stenosis at the time of pregnancy, 2 of which had previously undergone interventional cardiac procedures. Out of 10 pregnancies, 5 (50%) resulted in preterm labor (less than 37 weeks gestation). 80% of all deliveries were converted to Cesarean section after a trial of labor. 1 pregnancy resulted in intra-uterine fetal demise at 36 weeks while 9 pregnancies resulted in the birth of at least 1 live infant, for a total of 10 livebirths (due to 1 set of twins). 6/10 (60%) livebirths required care in the neonatal intensive care unit (NICU). One infant passed away in the NICU at 5 weeks of age prior to discharge. One pregnancy was complicated by post-partum hemorrhage and 1 pregnancy by a bleeding placenta previa. In conclusion, the majority of mothers had pre-existing though mild heart disease. Although many of the pregnancies resulted in living infants, this sample experienced high rates of prematurity, conversion to Cesarean section, and NICU stays for the neonate, as well as one occurrence of intrauterine fetal demise and one infant who died in the NICU. Although some serious maternal complications occurred, none resulted in long-term morbidity.

Open Access

This Article is Open Access