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1.
J Matern Fetal Neonatal Med ; 35(25): 8645-8651, 2022 Dec.
Article in English | MEDLINE | ID: mdl-34670457

ABSTRACT

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.


Subject(s)
Depression, Postpartum , Depression , Pregnancy , Female , Humans , Depression/diagnosis , Prenatal Care , Depression, Postpartum/diagnosis , Mothers/psychology , Socioeconomic Factors
2.
Prenat Diagn ; 41(11): 1449-1459, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34346064

ABSTRACT

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.


Subject(s)
Cystic Fibrosis/genetics , Genetic Carrier Screening/standards , Genotyping Techniques/economics , Prenatal Diagnosis/economics , Adult , Cost-Benefit Analysis/methods , Cystic Fibrosis/diagnosis , Female , Genetic Carrier Screening/methods , Genetic Carrier Screening/statistics & numerical data , Genotyping Techniques/methods , Genotyping Techniques/statistics & numerical data , Humans , Infant, Newborn , Pregnancy , Prenatal Diagnosis/methods , Prenatal Diagnosis/statistics & numerical data , Quality-Adjusted Life Years
3.
Medicine (Baltimore) ; 100(11): e25172, 2021 Mar 19.
Article in English | MEDLINE | ID: mdl-33726006

ABSTRACT

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.


Subject(s)
Angina, Unstable/drug therapy , Coronary Artery Disease/drug therapy , Medical Marijuana/therapeutic use , Angina, Unstable/complications , Coronary Artery Disease/complications , Humans , Male , Middle Aged
4.
J Matern Fetal Neonatal Med ; 34(11): 1732-1740, 2021 Jun.
Article in English | MEDLINE | ID: mdl-31327283

ABSTRACT

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.


Subject(s)
Cell-Free Nucleic Acids , Aneuploidy , Cost-Benefit Analysis , DNA , Female , Fetus , Humans , Infant, Newborn , Pregnancy , Prenatal Diagnosis , Syndrome
5.
Prenat Diagn ; 40(12): 1517-1524, 2020 12.
Article in English | MEDLINE | ID: mdl-32716062

ABSTRACT

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.


Subject(s)
Decision Support Techniques , Fetal Heart/diagnostic imaging , Noninvasive Prenatal Testing/economics , Ultrasonography, Prenatal , Cell-Free Nucleic Acids/analysis , Cost-Benefit Analysis , Female , Humans , Pregnancy , Pregnancy Trimester, First
6.
Clin Case Rep ; 7(9): 1735-1740, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31534738

ABSTRACT

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.

7.
Prenat Diagn ; 39(1): 26-32, 2019 01.
Article in English | MEDLINE | ID: mdl-30511781

ABSTRACT

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.


Subject(s)
Agenesis of Corpus Callosum/diagnostic imaging , Brain Diseases/diagnostic imaging , Cerebrum/diagnostic imaging , Cysts/diagnostic imaging , Hydrocephalus/diagnostic imaging , Prenatal Diagnosis/methods , Abnormalities, Multiple/epidemiology , Agenesis of Corpus Callosum/embryology , Agenesis of Corpus Callosum/surgery , Brain Diseases/embryology , Brain Diseases/surgery , Cerebrum/embryology , Cohort Studies , Cysts/embryology , Cysts/surgery , Female , Follow-Up Studies , Gestational Age , Humans , Hydrocephalus/surgery , Infant, Newborn , Magnetic Resonance Imaging , Male , Neurodevelopmental Disorders/epidemiology , Pregnancy , Ultrasonography, Prenatal
8.
Prenat Diagn ; 38(6): 395-401, 2018 05.
Article in English | MEDLINE | ID: mdl-29532939

ABSTRACT

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.


Subject(s)
Septum Pellucidum/abnormalities , Adolescent , Adult , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Pregnancy Outcome , Retrospective Studies , Septum Pellucidum/diagnostic imaging , Ultrasonography, Prenatal , Young Adult
9.
Obstet Gynecol Clin North Am ; 45(1): 13-26, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29428281

ABSTRACT

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.


Subject(s)
Cell-Free Nucleic Acids , Chromosome Disorders/diagnosis , Genetic Testing/methods , Amniocentesis , Aneuploidy , Chromosome Deletion , Female , Humans , Pregnancy , Prenatal Diagnosis
10.
Obstet Gynecol ; 131(3): 581-590, 2018 03.
Article in English | MEDLINE | ID: mdl-29420402

ABSTRACT

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.


Subject(s)
Abortion, Eugenic/legislation & jurisprudence , Cost-Benefit Analysis , Health Policy/economics , Hernias, Diaphragmatic, Congenital/economics , Pregnancy Trimester, Second , Abortion, Eugenic/economics , Decision Trees , Female , Health Care Costs/statistics & numerical data , Hernias, Diaphragmatic, Congenital/therapy , Humans , Infant, Newborn , Models, Economic , Monte Carlo Method , Pregnancy , Quality-Adjusted Life Years , United States
11.
J Matern Fetal Neonatal Med ; 31(15): 1951-1955, 2018 Aug.
Article in English | MEDLINE | ID: mdl-28514881

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.


Subject(s)
Pre-Eclampsia/etiology , Trisomy 13 Syndrome , Adult , California/epidemiology , Female , Humans , Pre-Eclampsia/epidemiology , Pregnancy , Retrospective Studies
12.
Am J Obstet Gynecol ; 216(1): 66.e1-66.e7, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27596619

ABSTRACT

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.


Subject(s)
Gastroschisis/therapy , Gestational Age , Perinatal Death , Stillbirth/epidemiology , Watchful Waiting , Adolescent , Adult , Cohort Studies , Databases, Factual , Female , Humans , Infant, Extremely Premature , Infant, Newborn , Infant, Premature , Logistic Models , Male , Multivariate Analysis , Odds Ratio , Pregnancy , Premature Birth , Retrospective Studies , Young Adult
13.
Am J Perinatol ; 33(12): 1152-8, 2016 10.
Article in English | MEDLINE | ID: mdl-27367279

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.


Subject(s)
Cesarean Section/statistics & numerical data , Infant Death , Perinatal Death , Pregnancy Complications/epidemiology , Turner Syndrome/epidemiology , Adult , California/epidemiology , Female , Fetal Death , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/epidemiology , Hospital Costs , Humans , Infant , Infant, Newborn , Infant, Small for Gestational Age , Pre-Eclampsia/epidemiology , Pregnancy , Premature Birth/epidemiology , Prenatal Diagnosis , Prevalence , Retrospective Studies , Turner Syndrome/diagnostic imaging , Turner Syndrome/economics
14.
Eur J Obstet Gynecol Reprod Biol ; 203: 173-6, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27318449

ABSTRACT

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.


Subject(s)
Genetic Testing , Infant, Newborn, Diseases/etiology , Klinefelter Syndrome/diagnosis , Pregnancy Complications/etiology , Prenatal Diagnosis , Adult , Cesarean Section/adverse effects , Cesarean Section/economics , Cohort Studies , Costs and Cost Analysis , Electronic Health Records , Female , Fetal Death/etiology , Genetic Testing/economics , Hospital Costs , Humans , Infant, Newborn , Infant, Newborn, Diseases/economics , Infant, Newborn, Diseases/therapy , International Classification of Diseases , Klinefelter Syndrome/economics , Klinefelter Syndrome/physiopathology , Klinefelter Syndrome/therapy , Male , Maternal Age , Perinatal Death/etiology , Pregnancy , Pregnancy Complications/economics , Pregnancy Complications/therapy , Pregnancy Outcome , Prenatal Diagnosis/economics , Retrospective Studies
15.
Prenat Diagn ; 36(4): 368-74, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26891366

ABSTRACT

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.


Subject(s)
Delivery, Obstetric , Down Syndrome/mortality , Gestational Age , Watchful Waiting , Adult , Down Syndrome/diagnosis , Female , Fetal Death , Humans , Infant , Infant Mortality , Infant, Newborn , Male , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Risk Assessment
16.
J Matern Fetal Neonatal Med ; 29(5): 690-5, 2016 Mar.
Article in English | MEDLINE | ID: mdl-25754212

ABSTRACT

OBJECTIVE: To determine the optimal timing of delivery in late preterm intrauterine growth restriction (IUGR) fetuses with abnormal umbilical artery Doppler (UAD) indices. METHODS: A decision-analytic model was built to determine the optimal gestational age (GA) of delivery in a theoretic cohort of 10 000 IUGR fetuses with elevated UAD systolic/diastolic ratios diagnosed at 34 weeks. All inputs were derived from the literature. Strategies involving expectant management accounted for the probabilities of stillbirth, spontaneous delivery and induction of labor for UAD absent or reversed end-diastolic flow (AREDF) at each successive week. Outcomes included short- and long-term neonatal morbidity and mortality with quality-adjusted life years (QALYs) generated based on these outcomes. Base case, sensitivity analyses and a Monte Carlo simulation were performed. RESULTS: The optimal GA for delivery is 35 weeks, which minimized perinatal deaths and maximized total QALYs. Earlier delivery became optimal once the risk of stillbirth was threefold our baseline assumption; our model was also robust until the risk of AREDF at 35 weeks was half our baseline assumption, after which delivery at 36 weeks was preferred. Delivery at 35 weeks was the optimal strategy in 77% of trials in Monte Carlo multivariable sensitivity analysis. CONCLUSIONS: Weighing the risks of iatrogenic prematurity against the poor outcomes associated with AREDF, the ideal GA to deliver late preterm IUGR fetuses with elevated UAD indices is 35 weeks.


Subject(s)
Decision Support Techniques , Delivery, Obstetric/methods , Fetal Growth Retardation/therapy , Infant, Premature , Umbilical Arteries/abnormalities , Vascular Malformations , Computer Simulation , Female , Fetal Growth Retardation/diagnostic imaging , Fetal Growth Retardation/epidemiology , Gestational Age , Humans , Infant, Newborn , Pregnancy , Pregnancy Outcome/epidemiology , Risk Factors , Stillbirth/epidemiology , Time Factors , Ultrasonography, Prenatal , Umbilical Arteries/diagnostic imaging , Vascular Malformations/diagnostic imaging , Vascular Malformations/epidemiology
17.
Obstet Gynecol ; 125(2): 387-389, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25569015

ABSTRACT

BACKGROUND: Noninvasive prenatal testing has a high detection rate of common fetal chromosomal aneuploidies. However, detection of additional chromosome abnormalities has not been well described or validated. CASE: We report a case of Jacobsen syndrome, a congenital disorder involving deletion of chromosome 11q, detected by noninvasive prenatal testing at 14 weeks of gestation and confirmed on neonatal testing with array chromosomal genomic hybridization. CONCLUSION: Noninvasive prenatal testing should be considered when multiple fetal anomalies are present and invasive testing is declined. As the clinical application of noninvasive prenatal testing continues to evolve, additional submicroscopic chromosomal information may be clinically helpful and should be confirmed with diagnostic testing until larger studies help further define the screening characteristics of noninvasive prenatal testing.


Subject(s)
Jacobsen Distal 11q Deletion Syndrome/diagnosis , Adult , Female , Humans , Infant, Newborn , Maternal Serum Screening Tests , Pregnancy , Ultrasonography, Prenatal
18.
J Matern Fetal Neonatal Med ; 28(17): 2126-9, 2015.
Article in English | MEDLINE | ID: mdl-25428833

ABSTRACT

OBJECTIVE: To evaluate the ongoing risk of intrauterine fetal demise (IUFD) in fetuses with gastroschisis compared to non-anomalous fetuses. METHODS: This was a retrospective cohort study of all births in the United States in 2005-2006, as recorded in the National Center for Health Statistics natality database. Risk of IUFD in fetuses with gastroschisis was compared to non-anomalous fetuses, utilizing total at-risk fetuses as the denominator. RESULTS: Risk of IUFD in fetuses with gastroschisis was 4.5%, compared to 0.6% in non-anomalous fetuses (p < 0.001). When controlling for gestational age and other confounders, the adjusted odds ratio for IUFD in fetuses with gastroschisis was 7.06 (95% CI: 3.33-14.96). After 32 weeks, risk of IUFD/ongoing pregnancy was greater at each week of gestation in fetuses with gastroschisis. CONCLUSIONS: Risk of IUFD for fetuses with gastroschisis is greater than in non-anomalous fetuses. This risk increases significantly after 32 weeks' gestation. Demographic variables are associated with higher rates of gastroschisis and ultimately IUFD. These data may be useful in consideration of timing of delivery.


Subject(s)
Fetal Death/etiology , Gastroschisis/embryology , Gastroschisis/mortality , Adult , Cohort Studies , Educational Status , Ethnicity , Female , Gestational Age , Humans , Maternal Age , Odds Ratio , Parity , Pregnancy , Retrospective Studies , Risk Factors , Smoking/adverse effects , Young Adult
19.
J Matern Fetal Neonatal Med ; 28(18): 2254-8, 2015.
Article in English | MEDLINE | ID: mdl-25371372

ABSTRACT

OBJECTIVE: We examined the morbidities from delivery at earlier gestational ages versus intrauterine fetal demise (IUFD) for women with intrahepatic cholestasis of pregnancy (ICP) to determine the optimal gestational age for delivery. METHODS: A decision-analytic model was created to compare delivery at 35 through 38 weeks gestation for different delivery strategies: (1) empiric steroids; (2) steroids if fetal lung maturity (FLM) negative; (3) wait a week and retest if FLM negative; or (4) deliver immediately. Literature review identified 18 studies that estimated IUFD in ICP; we used the mean rate, 1.74%, and assumed a uniform distribution from 34 to 40 weeks gestation. Large cohort data was used to calculate neonatal morbidity rates at each gestational age. Maternal and neonatal quality-adjusted life years (QALYs) were combined. Univariate sensitivity and Monte Carlo analyses were performed to test for robustness. RESULTS: Immediate delivery at 36 weeks without FLM testing and steroid administration was the optimal strategy as compared to delivery at 36 weeks with steroids (+47 QALYs) and as compared to immediate delivery at 35 weeks (+210 QALYs). Our results were robust up to a 30% increase in the rate of IUFD. CONCLUSION: Immediate delivery at 36 weeks in women with ICP is the optimal delivery strategy.


Subject(s)
Cholestasis, Intrahepatic , Decision Support Techniques , Delivery, Obstetric/methods , Gestational Age , Pregnancy Complications , Adult , Female , Fetal Death , Humans , Infant, Newborn , Infant, Newborn, Diseases/etiology , Infant, Newborn, Diseases/prevention & control , Pregnancy , Premature Birth , Prenatal Care/methods , Quality-Adjusted Life Years , Time Factors
20.
J Matern Fetal Neonatal Med ; 28(4): 409-12, 2015 Mar.
Article in English | MEDLINE | ID: mdl-24758363

ABSTRACT

INTRODUCTION: Velamentous cord insertion (VCI) can be identified on prenatal ultrasound with an incidence of around 1%. We set out to examine the association between VCI and perinatal outcomes. METHODS: This was a retrospective cohort study of 482,812 pregnancies using the California vital statistics birth cohort dataset linked with patient discharge dataset from 2006 during which 2327 (0.48%) were complicated by VCI. Outcomes examined included intrauterine fetal demise (IUFD), small for gestational age (SGA), preterm delivery, manual removal of the placenta and cesarean delivery. Statistical analysis was performed using Chi squared tests and multivariable logistic regression analyses. RESULTS: Pregnancies with VCI, compared to those without, were associated with an increased risk of IUFD (2.6% versus 0.28%, p = 0.001), SGA (16.93% versus 10.17%, p = 0.001), preterm delivery <37 weeks (12.5% versus 9.10%, p = 0.001), manual removal of placenta (14.47% versus 0.76%, p = 0.01) and postpartum hemorrhage (6.66% versus 2.88%, p = 0.001). Adjusting for confounders, the adjusted odds of IUFD were more than nine times in pregnancies with VCI (aOR 9.56; 95% CI 6.76-13.5) than those without. DISCUSSION: VCI is associated with an increased risk of adverse perinatal outcomes such as IUFD, SGA, preterm delivery <37 weeks, need for manual removal of placenta and post-partum hemorrhage. Routine identification of the placental cord insertion site should be considered. Close surveillance of these pregnancies should be undertaken. Future research should focus on the optimal management including the gestational age for delivery of these pregnancies.


Subject(s)
Placenta Diseases/epidemiology , Pregnancy Outcome/epidemiology , Umbilical Cord/pathology , Adult , California/epidemiology , Cesarean Section/statistics & numerical data , Cohort Studies , Female , Fetal Death , Humans , Infant, Newborn , Infant, Small for Gestational Age , Placenta/diagnostic imaging , Placenta/pathology , Placenta Diseases/diagnostic imaging , Placenta Diseases/pathology , Pregnancy , Premature Birth/epidemiology , Retrospective Studies , Ultrasonography , Umbilical Cord/diagnostic imaging , Young Adult
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