The cost-effectiveness of genotyping versus sequencing for prenatal cystic fibrosis carrier screening.

OBJECTIVE: We investigated the cost-effectiveness of three sequential prenatal cystic fibrosis (CF) carrier screening strategies: genotyping both partners, genotyping one partner then sequencing the second, and sequencing both partners. METHOD: A decision-analytic model compared the strategies in a theoretical cohort of four million pregnant couples in the US population and five racial/ethnic sub-populations. Inputs were obtained from literature and varied in sensitivity analysis. Outcomes included cost per quality-adjusted life year (QALY), missed carrier couples, affected newborns, missed prenatal diagnoses, terminations, and procedure-related losses. The cost-effectiveness threshold was $100,000/QALY. RESULTS: Sequencing both partners identified 1099 carrier couples that were missed by genotyping both partners, leading to 273 fewer missed prenatal diagnoses, 152 more terminations, and 152 fewer affected newborns. A similar trend was observed in the genotyping followed by sequencing strategy. The incremental cost-effectiveness ratio of genotyping followed by sequencing compared to genotyping both partners was $180,004/QALY and the incremental cost-effectiveness ratio of sequencing both partners compared to genotyping followed by sequencing was $17.6 million/QALY. Sequencing both partners was cost-effective below $339 per test, genotyping/sequencing between $340 and $1837, and genotyping both partners above $1838. Sequencing was not cost-effective among five racial/ethnic sub-populations. CONCLUSION: Despite improved outcomes, sequencing for prenatal CF carrier screening was not cost-effective compared to genotyping. The clinical significance of the incremental cost-effectiveness of CF carrier screening is a matter of deliberation for public policy debate.

Isolated echogenic intracardiac foci and the role of cell-free fetal DNA: A cost-effectiveness analysis.

OBJECTIVES: Cell-free fetal DNA (cfDNA) has been increasingly incorporated into prenatal aneuploidy screening paradigms given its relatively high sensitivity for Down syndrome (DS). This is often the case when fetal ultrasonographic soft markers are present, such as the relatively common echogenic intracardiac focus (EIF). We sought to evaluate the cost-effectiveness of a screening strategy that included cfDNA screening when an isolated EIF is identified in a low-risk population with prior aneuploidy screening. METHODS: A decision-analytic model was constructed using TreeAge software with probabilities derived from the literature. Our model compared cfDNA screening following isolated EIF detection in women less than 35 years with prior reassuring first trimester screen compared to a strategy of no further aneuploidy screening. Strategies were compared to generate an incremental cost-effectiveness ratio with a threshold of $100 000/quality-adjusted life year (QALY) and applied to a theoretical cohort. RESULTS: The cfDNA strategy resulted in 21 fewer DS births and 52 additional QALYs, however, increased costs by $51.3 million. This yielded an incremental cost-effectiveness ratio of $986 503; therefore, it was not a cost-effective strategy. CONCLUSION: In a low-risk population with prior reassuring aneuploidy screening, it is not cost effective to offer cfDNA after identification of an isolated EIF.

Clinical outcomes following prenatal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and callosal dysgenesis (AVID).

OBJECTIVES: When identified prenatally, the imaging triad of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) can indicate a more serious congenital brain anomaly. In this follow-up series of 15 fetuses, we present the neurodevelopmental outcomes of a single institution cohort of children diagnosed prenatally with AVID. METHODS: Our fetal ultrasound database was queried for cases of AVID between 2000 and 2016. All available fetal MR imaging studies were reviewed for the presence of (a) interhemispheric cysts or ventricular diverticula and (b) dysgenesis or agenesis of the corpus callosum. Clinical records were reviewed for perinatal management, postnatal surgical management, and neurodevelopmental outcomes. RESULTS: Fifteen prenatal cases of AVID were identified. Twelve were live-born and three pregnancies were terminated. Of the 12 patients, 11 underwent neurosurgical intervention. Of the eight patients surviving past infancy, seven of eight have moderate to severe neurodevelopmental delays or disabilities, encompassing both motor and language skills, and all have variable visual abnormalities. CONCLUSION: In our cohort of 15 prenatally diagnosed fetuses with AVID, eight survived past infancy and all have neurodevelopmental disabilities, including motor and language deficits, a wide range of visual defects, craniofacial abnormalities, and medical comorbidities.

Diagnostic accuracy and clinical outcomes associated with prenatal diagnosis of fetal absent cavum septi pellucidi.

BACKGROUND: Absence of the cavum septi pellucidi (CSP) on prenatal imaging is historically associated with additional anomalies; however, recent cases of isolated absent CSP have also been identified. This study seeks to assess the accuracy of prenatal imaging in evaluating isolated absent CSP and to describe the spectrum of clinical outcomes. METHODS: This is a retrospective observational study of all prenatally diagnosed absent CSP cases between 2011 and 2016 at our institution. Cases with additional structural parenchymal abnormalities were excluded. Clinical outcomes were abstracted from available records. RESULTS: We identified 15 cases of prenatally diagnosed isolated absent CSP. All patients were initially diagnosed on ultrasound (US) and 11/15 patients had fetal magnetic resonance imaging (MRI) confirming the diagnosis. Prenatal US and MRI were concordant in all cases. Of the continuing pregnancies, 2 neonatal deaths occurred related to extreme prematurity. Two cases of septo-optic dysplasia were identified in our cohort. DISCUSSION: In this study, fetal MRI and US had a high degree of accuracy with concordant postnatal imaging. Our study is similar to other case series suggesting that a range of clinical outcomes is possible with isolated absent CSP, but long-term patient follow up is necessary.

Gastroschisis: mortality risks with each additional week of expectant management.

BACKGROUND: Prior studies have evaluated the overall risk of stillbirth in pregnancies with fetal gastroschisis. However, the gestational age at which mortality is minimized, balancing the risk of stillbirth against neonatal mortality, remains unclear. OBJECTIVE: We sought to evaluate the gestational age at which prenatal and postnatal mortality risk is minimized for fetuses with gastroschisis. STUDY DESIGN: This was a retrospective cohort study of singleton pregnancies delivered between 24 0/7 and 39 6/7 weeks, using 2005 through 2006 US national linked birth and death certificate data. Among pregnancies with fetal gastroschisis, prospective risk of stillbirth and risk of infant death were determined for each gestational age week. Risk of infant death with delivery was further compared to composite fetal/infant mortality risk with expectant management for 1 additional week. RESULTS: Among 2,119,049 pregnancies, 860 cases (0.04%) of gastroschisis were identified. The overall stillbirth rate among gastroschisis cases was 4.8%, and infant death occurred in 8.3%. Prospective risk of stillbirth became more consistently elevated beginning at 35 weeks, rising to 13.9 per 1000 pregnancies (95% confidence interval, 10.8-17.1) at 39 weeks. Risk of infant death concurrently nadired in the third trimester, ranging between 62.4-66.8 per 1000 live births between 32-39 weeks. Comparing mortality with expectant management vs delivery, relative risk was significantly greater with expectant management between 37-39 weeks, reaching 1.90 (95% confidence interval, 1.73-2.08) at 39 weeks with a number needed to deliver of 17.49 (95% confidence interval, 15.34-20.32) to avoid 1 excess death. CONCLUSION: Risk of prenatal and postnatal mortality for fetuses with gastroschisis may be minimized with delivery as early as 37 weeks.

Down syndrome: perinatal mortality risks with each additional week of expectant management.

OBJECTIVE: To evaluate the gestational age (GA) at which perinatal mortality risk is minimized for fetuses with Down syndrome (DS). METHODS: Retrospective cohort of singleton pregnancies delivered between 24 and 41 weeks, using 2005-2006 United States linked birth and death certificate data. Among fetal DS cases, prospective risk of intrauterine fetal demise (IUFD) and risk of infant death were calculated for each week, and composite risk of fetal/infant mortality with expectant management was compared to delivery. RESULTS: Of 3,113,098 pregnancies, 1766 had fetal DS (0.06%). IUFD occurred in 7.4% with DS, and infant death in 6.5%. Prospective risk of IUFD increased from 37 weeks onward to reach 50.7 per 1000 pregnancies (95% CI 33.2-68.3) at 42 weeks. Comparing mortality with expectant management to delivery, expectant management carried increasing risk from 38 (RR 1.18; 95% CI 1.05-1.33) to 41 weeks (RR 1.84; 95% CI 1.66-2.05). Further, number needed to deliver to avoid one excess death decreased from 38 (109.17; 95% CI 64.52-344.83) to 41 weeks (24.08; 95% CI 20.59-29.04). CONCLUSIONS: Although further research is needed to clarify risk factors for fetal and neonatal death in cases of DS, risk of perinatal mortality appears to be minimized with delivery at 38 weeks.

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.

Depression and socioeconomic stressors in expectant parents with fetal congenital anomalies.

OBJECTIVE: Congenital anomalies are increasingly diagnosed before birth, which may lead to psychological distress in expectant parents. While the presence of significant symptoms of depression and stress in these parents is established, understanding their context within parents' other life stressors has not been fully investigated. We sought to characterize the socioeconomic profile and depression symptoms of expectant parents in a quaternary care academic hospital's fetal care clinic. METHODS: This prospective observational study enrolled pregnant persons and their partners in our fetal care clinic. The Edinburgh Postpartum Depression Scale (EPDS), Tool Assessing Patient Stress (TAPS), and a sociodemographic survey were utilized to assess parent psychological distress and socioeconomic stressors. Results were analyzed by the severity of the fetal anomaly. EPDS was repeated at two weeks postpartum. RESULTS: 21.7% of pregnant subjects and 25.0% of co-parents had a positive screen on the EPDS at enrollment during their pregnancy. Mothers' EPDS scores correlated with the severity of the fetal anomaly. Many parents reported socioeconomic stressors including: living remotely from the medical center, low household income, food insecurity, unemployment, or other employment concerns, and difficulty affording living expenses. Most also reported factors that can mitigate psychological distress including social support and participation in a religion or faith. CONCLUSIONS: Expectant parents with fetal anomalies should be screened for depression as well as social and economic risk factors that place them and their infants at higher risk for poor health outcomes. Further work is needed to determine the optimum interventions for addressing their depression symptoms and reducing socioeconomic stressors.

Attitudes toward prenatal testing and pregnancy termination among a diverse population of parents of children with intellectual disabilities.

OBJECTIVE: To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD: We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenatal testing or pregnancy termination for the child's condition in a future pregnancy. RESULTS: While only 33% of the sample indicated they would not have prenatal testing, 75% were disinclined to terminate their pregnancy if their fetus was affected. In multivariable logistic regression analysis, Asians were significantly less likely than White participants to say they would forego prenatal testing (adjusted odds ratio (aOR) = 0.08, 95% confidence interval (CI) = 0.01-0.86, p = 0.037), while Latinos had lower odds of being disinclined to terminate (aOR = 0.27, 95% CI = 0.07-0.99, p = 0.048). Participants who felt that abortion for their child's condition should not be available were more likely to say they would forego prenatal testing (aOR = 5.10, 95% CI = 2.09-12.43, p < 0.001) and, not surprisingly, they were also at higher odds of being disinclined to terminate pregnancy for this condition (aOR = 13.63, 95% = CI 4.19-44.34, p < 0.001). Greater life satisfaction also was associated with being disinclined to terminate pregnancy (aOR = 3.40, 95% CI = 1.34-8.61, p = 0.010). CONCLUSION: Although many parents of children with intellectual disabilities believe they would desire information regarding their fetus in a future pregnancy, most feel they would not opt to terminate their pregnancy. As new tests for intellectual disabilities become available, determining what would be most useful to prospective parents should become a high priority.

Application of medical cannabis in unstable angina and coronary artery disease: A case report.

RATIONALE: First discovered in 1990, the endocannabinoid system (ECS) was initially shown to have an intimate relationship with central areas of the nervous system associated with pain, reward, and motivation. Recently, however, the ECS has been extensively implicated in the cardiovascular system with contractility, heart rate, blood pressure, and vasodilation. Emerging data demonstrate modulation of the ECS plays an essential role in cardio metabolic risk, atherosclerosis, and can even limit damage to cardiomyocytes during ischemic events. PATIENT CONCERNS: This case describes a 63-year-old man who presented to a primary care physician for a medical cannabis (MC) consult due to unstable angina (UA) not relieved by morphine or cardiac medications; having failed all first- and second-line polypharmaceutical therapies. The patient reported frequent, unprovoked, angina and exertional dyspnea. DIAGNOSIS: Having a complex cardiac history, the patient first presented 22 years ago after a suspected myocardial infarction. He re-presented in 2010 and underwent stent placement at that time for inoperable triple-vessel coronary artery disease (CAD) which was identified via percutaneous transluminal coronary angioplasty. UA developed on follow-up and, despite medical management over the past 6 years, became progressively debilitating. INTERVENTIONS AND OUTCOMES: In conjunction with his standard cardiac care, patient had a gradual lessening of UA-related pain, including frequency and character, after using an edible form of MC (1:1 cannabidiol:Δ9-tetrahydrocannabinol). Following continued treatment, he ceased long-term morphine treatment and described the pain as no longer crippling. As demonstrated by his exercise tolerance tests, the patient experienced an improved functional capacity and reported an increase in his daily functioning, and overall activity. LESSONS: This case uniquely highlights MC in possibly reducing the character, quality, and frequency of UA, whereas concordantly improving functional cardiac capacity in a patient with CAD. Additional case reports are necessary to verify this.

Cell-free fetal DNA screening for detection of microdeletion syndromes: a cost-effectiveness analysis.

OBJECTIVE: Fetuses with genetic copy number variants are poorly detected through traditional prenatal screening. Microdeletions and duplications are clearly identified with diagnostic testing through chromosomal microarray, and screening of a select number of microdeletions has become available with cell-free DNA (cfDNA). Our study compares the costs and outcomes of cfDNA for five pathogenic microdeletions and aneuploidy to cfDNA for aneuploidy alone in conjunction with ultrasound. METHODS: A decision-analytic model was constructed using TreeAge software to compare cfDNA with microdeletions versus traditional cfDNA in a theoretical cohort of 4,000,000 pregnancies that would also be screened with ultrasound. Probabilities, costs, and utilities were derived from literature. The primary outcomes were the incremental cost per quality-adjusted life-year (QALY), terminations, and procedure-related losses. Because the microdeletion results are available, but not reported, on all cfDNA testing we set the incremental cost of the cfDNA microdeletion screening test to zero at baseline and varied the cost in sensitivity analysis. RESULTS: Screening with cfDNA for microdeletions among all pregnant women would result in 83 fewer anomalous neonates compared to traditional cfDNA with ultrasound. This reduction is due to increased diagnosis and termination of fetuses with microdeletions in this group. Routine use of cfDNA with microdeletions resulted in more procedure-related losses. cfDNA with microdeletions would improve effectiveness by 977 QALYs and decrease costs by $90,991,784. When we varied the specificity of the screening test, we found that it remained cost-effective down to a specificity of 91%. With a threshold of $100,000/QALY, microdeletion screening is cost-effective to an incremental increase in cost over cfDNA for aneuploidy alone of $47.10. CONCLUSION: For detection of fetal subchromosomal abnormalities, use of cfDNA with microdeletions is a cost-effective strategy compared to cfDNA for aneuploidy alone in conjunction with ultrasound. Cell-free DNA for microdeletions is not currently recommended as routine screening for low-risk obstetric populations by the American College of Obstetrics and Gynecologists or the Society for Maternal-Fetal Medicine. The test characteristics of cfDNA with microdeletions require greater examination before being routinely recommended.

Systematic review: elective induction of labor versus expectant management of pregnancy.

BACKGROUND: The rates of induction of labor and elective induction of labor are increasing. Whether elective induction of labor improves outcomes or simply leads to greater complications and health care costs is commonly debated in the literature. PURPOSE: To compare the benefits and harms of elective induction of labor and expectant management of pregnancy. DATA SOURCES: MEDLINE (through February 2009), Web of Science, CINAHL, Cochrane Central Register of Controlled Trials (through March 2009), bibliographies of included studies, and previous systematic reviews. STUDY SELECTION: Experimental and observational studies of elective induction of labor reported in English. DATA EXTRACTION: Two authors abstracted study design; patient characteristics; quality criteria; and outcomes, including cesarean delivery and maternal and neonatal morbidity. DATA SYNTHESIS: Of 6117 potentially relevant articles, 36 met inclusion criteria: 11 randomized, controlled trials (RCTs) and 25 observational studies. Overall, expectant management of pregnancy was associated with a higher odds ratio (OR) of cesarean delivery than was elective induction of labor (OR, 1.22 [95% CI, 1.07 to 1.39]; absolute risk difference, 1.9 percentage points [CI, 0.2 to 3.7 percentage points]) in 9 RCTs. Women at or beyond 41 completed weeks of gestation who were managed expectantly had a higher risk for cesarean delivery (OR, 1.21 [CI, 1.01 to 1.46]), but this difference was not statistically significant in women at less than 41 completed weeks of gestation (OR, 1.73 [CI, 0.67 to 4.5]). Women who were expectantly managed were more likely to have meconium-stained amniotic fluid than those who were electively induced (OR, 2.04 [CI, 1.34 to 3.09]). LIMITATIONS: There were no recent RCTs of elective induction of labor at less than 41 weeks of gestation. The 2 studies conducted at less than 41 weeks of gestation were of poor quality and were not generalizable to current practice. CONCLUSION: RCTs suggest that elective induction of labor at 41 weeks of gestation and beyond is associated with a decreased risk for cesarean delivery and meconium-stained amniotic fluid. There are concerns about the translation of these findings into actual practice; thus, future studies should examine elective induction of labor in settings where most obstetric care is provided.

Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p.

We describe twins with an interstitial deletion of chromosome 1 with a severe phenotype compared to previously described cases. As genetic testing is more frequently performed, it is important for clinicians to understand the spectrum of clinical findings that can occur with this particular deletion.

Perinatal outcomes in the setting of active phase arrest of labor.

OBJECTIVE: To examine the association between active phase arrest and perinatal outcomes. METHODS: This was a retrospective cohort study of women with term, singleton, cephalic gestations diagnosed with active phase arrest of labor, defined as no cervical change for 2 hours despite adequate uterine contractions. Women with active phase arrest who underwent a cesarean delivery were compared with those who delivered vaginally, and women who delivered vaginally with active phase arrest were compared with those without active phase arrest. The association between active phase arrest, mode of delivery, and perinatal outcomes was evaluated using univariable and multivariable logistic regression models. RESULTS: We identified 1,014 women with active phase arrest: 33% (335) went on to deliver vaginally, and the rest had cesarean deliveries. Cesarean delivery was associated with an increased risk of chorioamnionitis (adjusted odds ratio [aOR] 3.37, 95% confidence interval [CI] 2.21-5.15), endomyometritis (aOR 48.41, 95% CI 6.61-354), postpartum hemorrhage (aOR 5.18, 95% CI 3.42-7.85), and severe postpartum hemorrhage (aOR 14.97, 95% CI 1.77-126). There were no differences in adverse neonatal outcomes. Among women who delivered vaginally, women with active phase arrest had significantly increased odds of chorioamnionitis (aOR 2.70, 95% CI 1.22-2.36) and shoulder dystocia (aOR 2.37, 95% CI 1.33-4.25). However, there were no differences in the serious sequelae associated with these outcomes, including neonatal sepsis or Erb's palsy. CONCLUSION: Efforts to achieve vaginal delivery in the setting of active phase arrest may reduce the maternal risks associated with cesarean delivery without additional risk to the neonate. LEVEL OF EVIDENCE: II.

Google obstetrics: who is educating our patients?

OBJECTIVE: This study was undertaken to investigate the sources of information retrieved by searching for obstetrically related terms on the Internet. STUDY DESIGN: The Google and Yahoo search engines were used to search for the terms "cerebral palsy," "birth trauma," "shoulder dystocia," "forceps delivery," "epidural," and "cesarean section." The first page of results retrieved for these search terms was examined. Information regarding the organization or individuals sponsoring the websites was collected. Differences in sponsorship were investigated by using a chi(2) test. RESULTS: Sponsorship was significantly different between topics (P < .001). Lawyers were the most common sponsors of websites retrieved by the terms cerebral palsy (52%), birth trauma (48%), and shoulder dystocia (43%). Only 3.6% of websites on the first page of results were created or sponsored by obstetrician-gynecologists. CONCLUSION: As the Internet becomes a frequently used source of health information, obstetrician-gynecologists should consider how this forum can be more effectively used to disseminate educational information.

Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes.

Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.

Twenty-Week Abortion Bans on Pregnancies With a Congenital Diaphragmatic Hernia: A Cost-Effectiveness Analysis.

OBJECTIVE: To estimate the effect of 20-week abortion bans on maternal and consequent neonatal health outcomes and costs in the setting of fetal congenital diaphragmatic hernia. METHODS: A decision-analytic model was built using TreeAge software to evaluate the effect of a 20-week ban on abortion in a theoretical cohort of 921 women diagnosed with fetal congenital diaphragmatic hernia. Probabilities, utilities, and costs were derived from the literature. The cohort size was based on the annual rate of prenatal diagnoses of congenital diaphragmatic hernia and live births among the 20 states with bans. The threshold for cost-effectiveness was set at $100,000 per quality-adjusted life-year. Analysis was completed from the maternal perspective. Clinical outcomes included mode of delivery, maternal death, intrauterine fetal death, neonatal death, neurodevelopmental disability, and use of extracorporeal membrane oxygenation. One-way sensitivity analysis was used on all variables and Monte Carlo simulation was performed. RESULTS: A policy restricting termination was associated with higher costs, at an additional $158,419,623, with decreased quality of life and 674 fewer quality-adjusted life-years. With 20-week bans in place, 60 women would travel out of state to obtain abortions. There would be 158 more live births affected by congenital diaphragmatic hernia. Of these births, 45 neonates would die before 28 days after birth and an additional 37 would have long-term neurodevelopmental disability. CONCLUSION: In this model, bans that limit abortions beyond 20 weeks of gestation were associated with worse health outcomes and increased costs for women with pregnancies complicated by congenital diaphragmatic hernia. The restriction of health care access should be considered in terms of the long-term outcomes and economic effect on individuals and society.

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

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 association between persistent occiput posterior position and neonatal outcomes.

OBJECTIVE: To examine the effect of persistent occiput posterior position on neonatal outcome. METHODS: This is a retrospective cohort study of 31,392 term, cephalic, singleton births. Women with neonates born in persistent occiput posterior position at delivery were compared to those with occiput anterior position. Women with occiput transverse position were excluded. The association between occiput posterior position and neonatal outcomes, including 5-minute Apgar scores, umbilical cord gases, meconium-stained amniotic fluid, meconium aspiration syndrome, birth trauma, admission to the intensive care nursery, and length of stay were examined using chi(2) and Student t tests. Potential confounders (maternal age, ethnicity, parity, gestational age, epidural anesthesia, labor induction, length of labor, meconium, chorioamnionitis, birth weight, and year of delivery) were controlled for by using multivariable logistic regression and linear regression analyses. RESULTS: There were 2,591 (8.2%) neonates delivered in occiput posterior position of the total cohort of 31,392 deliveries. Compared with occiput anterior, neonates delivered in occiput posterior position had higher risks for adverse outcomes, including 5-minute Apgar score less than 7 (odds ratio [OR] 1.50, 95% confidence interval [CI] 1.17-1.91), acidemic umbilical cord gases (OR 2.05, 95% CI 1.52-2.77), meconium-stained amniotic fluid (OR 1.29, 95% CI 1.17-1.42), birth trauma (OR 1.77, 95% CI 1.22-2.57), admission to the intensive care nursery (OR 1.57, 95% CI 1.28-1.92), and longer neonatal stay in the hospital (OR 2.69, 95% CI 2.22-3.25). CONCLUSION: Persistent occiput posterior position at delivery is associated with higher risks of adverse neonatal outcomes compared with neonates delivered in the occiput anterior position. This information may be important in counseling women who experience persistent occiput posterior position in labor. LEVEL OF EVIDENCE: II-2.

History of miscarriage and increased incidence of fetal aneuploidy in subsequent pregnancy.

OBJECTIVE: The purpose of this study was to examine the association between history of spontaneous abortion and aneuploidy in a subsequent pregnancy. METHODS: This was a retrospective cohort study of women who underwent fetal karyotype analysis with amniocentesis or chorionic villus sampling at a single prenatal diagnosis center. Information on spontaneous abortions, parity, maternal age, ethnicity, type of prenatal diagnosis, and karyotype was assessed. Univariable and multivariable analyses were conducted. RESULTS: A total of 46,939 women were included in our analysis. Women with no prior spontaneous abortions had a 1.39% risk for any aneuploidy. In women with one prior spontaneous abortion, this risk increased to 1.67%; for women with 2 previous spontaneous abortions, the risk increased to 1.84%; and for those women who had had 3 or more prior spontaneous abortions, the risk increased further to 2.18% (P < .007). When controlling for maternal age, parity, ethnicity, and mode of prenatal diagnosis and compared with women with no prior spontaneous abortions, women with one prior spontaneous abortion (adjusted odds ratio [AOR] 1.21, 95% confidence interval [CI] 1.01-1.47) or 3 or more prior spontaneous abortions (AOR 1.51, 95% CI 1.02-2.25) had a statistically significant increase in aneuploidy in a subsequent pregnancy. Women with 2 prior spontaneous abortions had an AOR of 1.26 for aneuploidy, but the 95% CI contained unity. CONCLUSION: An increased risk of karyotypic abnormality identified at the time of prenatal diagnosis is demonstrated in patients with an increasing number of spontaneous abortions. This study provides information regarding this risk among women presenting for prenatal diagnosis. According to our data, for a woman with an a priori risk of 1 in 300 for Down syndrome, 3 prior spontaneous abortions would increase that risk by 47% to 1 in 204. These results should be confirmed in low-risk populations.