Objective To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS). Design Retrospective case series. Setting Clinical research center. Patients 276 adults with cytogenetically-proven TS participating in an intramural natural history protocol Interventions None. Main Outcome Measures Menstrual and obstetric histories, 50-cell karyotypes, and cardiovascular evaluation including aortic diameter measurements. Results 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 4/7 spontaneous and 6/6 ART-related pregnancies. One mother experienced pre-eclampsia in an ART-related twin pregnancy requiring preterm delivery; she has marked but stable aortic dilation years later. Conclusions 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 prior to conception, single embryo transfer, and caution regarding unintentional pregnancies for TS women.

Background: Turner Syndrome (TS) is due to X chromosome monosomy and affects *1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. Methods: This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. Results: Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women ( p < 0.0001). Eighty percent of the TS group was employed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population ( p < 0.0001). Height and parental origin of the single normal X chromosome had no association with education, employment, or marital status. Conclusion: Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.

No abstract