Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience

ObjectiveTo assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS).DesignRetrospective case series.SettingClinical research center.Patient(s)276 adults with cytogenetically proven TS participating in an intramural natural history protocol.Intervention(s)None.Main Outcome Measure(s)Menstrual and obstetric histories, 50-cell karyotypes, and cardiovascular evaluation including aortic diameter measurements.Result(s)Our cohort included five women with spontaneous pregnancies and five with pregnancies using assisted reproduction (ART). All five women with spontaneous pregnancies had spontaneous puberty, despite 45,X in ≥90% of their 50-cell karyotype. Participants had a total of 13 pregnancies and 14 live births. One child had cerebral palsy; the others were chromosomally and developmentally normal. Delivery was by cesarean section in four out of seven spontaneous and six out of six ART-related pregnancies. One mother experienced preeclampsia in an ART-related twin pregnancy that required a preterm delivery; she has marked but stable aortic dilation years later.Conclusion(s)Approximately 2% of our study cohort experienced spontaneous pregnancies despite high-grade X monosomy, and a similar number achieved pregnancy via oocyte donation and ART. The potential for life-threatening cardiovascular complications warrants comprehensive screening before conception or single-embryo transfer, and caution regarding unintentional pregnancies for TS women.