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

Abstract

Objective: To assess fetal and maternal outcomes of pregnancies in women with Turner syndrome (TS).

Design: Retrospective case series.

Setting: Clinical 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.

Figure 1

Pregnancies in TS women. 87.7% of participants had no children. 9.1% chose to adopt children, 1.4% had spontaneous pregnancies, 1.4% achieved only assisted pregnanciesm, and the remaining 0.4% experienced both spontaneous and assisted pregnancy.