The Effects of Turner Syndrome, 45,X on Obstetric and Neonatal Outcomes: A Retrospective Cohort Evaluation

Abstract

Objective This study aims to evaluate the perinatal and neonatal outcomes associated with prenatal diagnosis of 45,X, both with and without fetal cardiac anomalies.

Study Design A retrospective cohort of singleton pregnancies in California, 2005 to 2008, using vital statistics and International Classification of Diseases, Ninth Revision data, identifying prenatally diagnosed 45,X. Outcomes included preterm delivery, preeclampsia, intrauterine fetal demise (IUFD), cesarean section, small for gestational age (SGA), neonatal death, and infant death. Bivariate and multivariate analyses were used to compare pregnancies and neonates with and without 45,X. Prenatally diagnosed cardiac anomalies were also considered.

Results Of the 2,029,000 deliveries, 138 had prenatally diagnosed 45,X. Out of these 138 deliveries, 22 had a prenatally diagnosed cardiac anomaly. Compared with unaffected pregnancies, those with fetal 45,X had higher rates of preterm delivery (19.5 vs. 9.9%, p = 0.001), cesarean section (44.2 vs. 30.2%, p < 0.0001), and SGA (21.5 vs. 6.3%, p < 0.0001). The affected cohort had no IUFDs. Neonatal death was 14.5 times higher in the 45,X cohort (p < 0.0001). Of only infants with cardiac anomalies, neonatal death was significantly more likely in those with 45,X (p = 0.005). In adjusted analysis, risk of SGA (< 3rd percentile), neonatal death, and infant death remained increased for infants with 45,X while controlling for fetal cardiac anomalies.

Conclusion Prenatally diagnosed 45,X was associated with increased risk of cesarean section, and adverse neonatal outcomes, including mortality.

Keywords

45 - X - Turner syndrome - sex chromosome aneuploidy - perinatal outcomes

Note

Data for this report were presented at the 36th Annual Meeting of the Society for Maternal-Fetal Medicine; February 1–6, 2016; Atlanta, GA.

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