Whitney M. Humphrey

Trisomy 13 and the risk of gestational hypertensive disorders: a population-based study

Abstract Purpose: To describe the rate and severity of gestational hypertensive disorders (GHDs) in pregnancies complicated by trisomy 13 (T13). Materials and methods: Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using vital statistics and ICD-9 data. We were interested in gestational hypertension (gHTN), preeclampsia with and without severe features (sPREX and PREX), and gestational age at delivery. Pregnancies and maternal complications affected by prenatally diagnosed T13 were compared to unaffected pregnancies. Regression models were used to compute adjusted odds ratios for pregnancy outcomes by T13 status. Results: Of the 2,029,004 deliveries, 142 women had prenatally diagnosed T13. A diagnosis of GHD occurred in 26.8% of the T13 pregnancies versus 6% of the non-T13 pregnancies (p < .001). This remained true for gHTN (9.2% versus 3.2%, p=.001), PREX (12% versus 2.2%, p < .001), and sPREX (8.5% versus 0.9%, p < .001). After adjusting for confounders, T13 pregnancies were 6.3-times more likely to be affected by GHD, and 12.5-times more likely to have sPREX. Delivery <37 and <32 weeks in the setting of GHD was 14.1-times and 11.2-times likely among women with T13. Conclusions: Women with T13 pregnancies were significantly more likely to have gHTN, preeclampsia, sPREX, and to deliver <32 weeks.

The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes

OBJECTIVE The objective of this study was to examine the obstetric and neonatal outcomes as well as the as the associated hospital costs for pregnancies complicated by prenatally diagnosed Klinefelter Syndrome, 47,XXY. STUDY DESIGN We conducted a retrospective cohort study of all of the singleton deliveries in California from 2005 to 2008 using vital statistics and ICD-9 data, specifically identifying cases of fetal Klinefelter Syndrome. Specifically, we were interested in the outcomes of preterm delivery, preeclampsia, intrauterine fetal demise, cesarean delivery, neonatal death, respiratory distress syndrome (RDS), small for gestational age, large for gestational age, neonatal death, and infant death. Bivariate and multivariate analyses were used to compare pregnancies and neonates affected by prenatally diagnosed Klinefelter Syndrome to those that were not affected with 47,XXY. RESULTS There were 2,029,000 deliveries in the cohort, including 52 women with prenatally diagnosed 47,XXY. Advanced maternal age, completion of 12th grade, and private insurance were all associated with a prenatal diagnosis of Klinefelter Syndrome. Compared to unaffected deliveries, pregnancies complicated by prenatally diagnosed Klinefelter Syndrome had higher rates of preterm delivery (23.1% vs 9.9%, p=0.0004), cesarean delivery (50.0% vs 30.2%, p=0.004), and RDS (9.6% vs 1.2%, p=<0.0001). Infants with 47,XXY were markedly more likely to be small for gestational age, including less than the 10th, 5th and 3rd percentile (aOR 5.86 (95% CI 2.99, 11.46), 6.03 (95% CI 2.52, 14.43), and 8.28 (95% CI 3.22, 21.25), p≤0.001). Rates of neonatal death were 9.5 times higher (1.9% vs 0.2% p<0.0001) in the 47,XXY cohort, and rates of infant death were more than 50 times higher (5.8% vs 0.1%, p<0.0001). In the adjusted analysis, prenatally diagnosed 47,XXY was associated with increased odds of preterm delivery <32 weeks (OR 6.81, 95% CI 2. .38, 19.52), IVH (OR 9.08, 95% CI 1.22, 67.7), RDS (OR 8.32, 95% CI 3.22, 21.49), neonatal death (OR 9.77, 1.33, 71.79), and infant death (OR 62.73, 95% CI 19.34, 203.4). CONCLUSION Pregnancies affected by prenatally diagnosed Klinefelter Syndrome are at an increased risk of adverse fetal and neonatal outcomes. These findings may be helpful when counseling families with pregnancies affected by fetal 47,XXY.

Trisomy 18 Pregnancies: Is there an Increased Maternal Risk?

Objective Characterize the impact of a trisomy 18 (T18) fetus on maternal and obstetric outcomes in a cohort including T18‐affected deliveries. Study Design Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using linked vital statistics and the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD‐9) data to compare deliveries affected by T18 to those without known aneuploidy. Outcomes of interest included gestational diabetes mellitus (GDM), preterm delivery (PTD), preeclampsia, cesarean delivery (CD), and intrauterine fetal demise (IUFD). The χ2 and paired t‐tests were used to compare the outcomes. Multiple logistic regression was used to further characterize these risks and control potential confounders. Results Of 2,029,000 deliveries, 298 involved T18. Compared with unaffected deliveries, T18 was associated with GDM (10.7 vs. 6.5%, p = 0.003), PTD < 37 (40.6 vs. 9.9%, p < 0.001) and < 32 weeks (14.8 vs. 1.4%, p < 0.001), and cesarean section (56 vs. 30.2%, p < 0.001), but not preeclampsia. In adjusted analyses, T18 pregnancies were associated with an increased risk of PTD < 37 and < 32 weeks (adjusted odds ratio [AOR]: 5.48, 95% confidence interval [CI]: 4.29, 6.99; AOR: 10.4, 95% CI: 7.26, 14.8), and an increased odd of CD for primiparous and multiparous women (AOR: 2.41, 95% CI: 1.48, 3.91; AOR: 5.42, 95% CI: 3.90, 7.53). Risk of GDM did not persist. Conclusion Unlike trisomy 13 (T13), pregnancies complicated by fetal T18 did not appear to result in an increased risk of preeclampsia. However, there is an increased risk of a range of other obstetric complications.

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

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.