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OBJECTIVE: To define the symptomatology of SARS-CoV-2 infection in pregnancy and associations between occupation, sociodemographic factors, and comorbidities with the severity of COVID-19 disease in pregnancy in all trimesters, regardless of hospitalization. METHODS: We studied a retrospective cohort of a public health surveillance sample of persons with COVID-19 infection diagnosed during pregnancy. Data was collected March 2020 to August 2020 regarding symptoms, disease severity, comorbidities, obstetric history, and occupation. RESULTS: One hundred sixty-three individuals were identified. Constitutional (64%) and lower respiratory symptoms (61%) were most common. Seventeen individuals (13.6%) were hospitalized, and one person (0.7%) died due to COVID-19. Risk factors for severe disease were age and an occupation that had high intensity exposure to people. CONCLUSIONS: Occupational exposure is a risk factor for severe COVID-19 disease in pregnancy, justifying policy measures to ensure protection of this vulnerable population.
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COVID-19 , Femenino , Humanos , Ocupaciones , Embarazo , Estudios Retrospectivos , SARS-CoV-2 , Factores SociodemográficosRESUMEN
BACKGROUND: Structural racism leads to adverse health outcomes, as highlighted by inequities in COVID-19 infections. We characterized Black/White disparities among pregnant women with SARS-CoV-2 in Cuyahoga County which has some of the most extreme health disparities in the U.S., such as a rate of Black infant mortality that is three times that of White counterparts. METHODS: This was a retrospective cohort study using data collected as part of public health surveillance between March 16, 2020 until October 1, 2020. This study aimed to compare Black and Non-Black pregnant women infected with SARS-CoV-2 to understand how the distribution of risk factors may differ by race. Outcomes included age, gestational age at infection, medical co-morbidities, exposure history, socio-economic status, occupation, symptom severity and pregnancy complications. FINDINGS: One hundred and sixty-two women were included. 81 (50%) were Black, 67 (41%) White, 9 (0·05%) Hispanic, 2 (0·01%) Asian; and three did not self-identify with any particular race. More than half who supplied occupational information (n = 132) were essential workers as classified by the CDC definition (55%, n = 73). Black women were younger (p = 0·0062) and more likely to identify an occupational contact as exposing them to SARS-CoV-2 (p = 0·020). Non-Black women were more likely to work from home (p = 0·018) and indicate a personal or household contact as their exposure (p = 0·020). Occupation was a risk factor for severe symptoms (aOR 4·487, p = 0·037). Most Black women lived in areas with median income <$39,000 and Black women were more likely to have a preterm delivery (22·2% versus 0%, p = 0·026). INTERPRETATION: Many pregnant women infected by SARS-CoV-2 are essential workers. Black women are more likely than White counterparts to have occupational exposure as the presumed source for their infection. Limitations in occupational options and controlling risk in these positions could be related to lower socio-economic status, resulting from a long history of structural racism in Cuyahoga County as evidenced by redlining and other policies limiting opportunities for people of color. FUNDING: none.
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AIMS/HYPOTHESIS: This study aimed to determine, in women with gestational diabetes (GDM), the changes in insulin sensitivity (Matsuda Insulin Sensitivity Index; ISOGTT), insulin response and disposition index (DI) from late pregnancy (34-37 weeks gestation, T1), to early postpartum (1-5 days, T2) and late postpartum (6-12 weeks, T3). A secondary aim was to correlate the longitudinal changes in maternal lipids, adipokines, cytokines and weight in relation to the changes in ISOGTT, insulin response and DI. METHODS: ISOGTT, insulin response and DI were calculated at the three time points (T1, T2 and T3) using the results of a 75 g OGTT. Adipokines, cytokines and lipids were measured prior to each OGTT. Linear mixed-effects models were used to compare changes across each time point. Changes in ISOGTT, insulin response and DI were correlated with changes in maternal adipokines, cytokines and lipids at each time point. RESULTS: A total of 27 women completed all assessments. Compared with T1, ISOGTT was 11.20 (95% CI 8.09, 14.31) units higher at 1-5 days postpartum (p < 0.001) and was 5.49 (95% CI 2.38, 8.60) units higher at 6-12 weeks postpartum (p < 0.001). Compared with T1, insulin response values were 699.6 (95% CI 957.5, 441.6) units lower at T2 (p < 0.001) and were 356.3 (95% CI 614.3, 98.3) units lower at T3 (p = 0.004). Compared with T1, the DI was 6434.1 (95% CI 2486.2, 10,381.0) units higher at T2 (p = 0.001) and was 4262.0 (95% CI 314.6, 8209.3) units higher at T3 (p = 0.03). There was a decrease in mean cholesterol, triacylglycerol, LDL-cholesterol and VLDL-cholesterol from T1 to T2 (all p < 0.001), and an increase in mean C-reactive protein, IL-6 and IL-8 from T1 to T2 (all p < 0.001). Mean leptin decreased from T1 to T2 (p = 0.001). There was no significant change in mean adiponectin (p = 0.99) or TNF-α (p = 0.81) from T1 to T2. The mean maternal BMI decreased from T1 to T2 (p = 0.001) and T3 (p < 0.001). There were no significant correlations between any measure of change in ISOGTT, insulin response and DI and change in maternal cytokines, adipokines, lipids or weight from T1 to T2. CONCLUSIONS/INTERPRETATION: In women with GDM, delivery was associated with improvement in both insulin sensitivity and insulin production within the first few days. Improvement in insulin production persisted for 6-12 weeks, but insulin sensitivity deteriorated slightly. These changes in glucose metabolism were not associated to changes in lipids, leptin, inflammation markers or body weight. TRIAL REGISTRATION: ClinicalTrials.gov NCT02082301.
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Diabetes Gestacional/metabolismo , Periodo Posparto/sangre , Adipoquinas/sangre , Adiponectina/sangre , Adulto , Glucemia/metabolismo , Proteína C-Reactiva/metabolismo , Diabetes Gestacional/sangre , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Insulina/sangre , Resistencia a la Insulina/fisiología , Leptina/sangre , Embarazo , Adulto JovenRESUMEN
OBJECTIVE: To estimate the accuracy of a new assay to determine the fetal RHD status using circulating cell-free DNA. METHODS: This was a prospective, observational study. Maternal blood samples were collected in each trimester of pregnancy in 520 nonalloimmunized RhD-negative patients. Plasma samples were analyzed for circulating cell-free DNA using the SensiGENE RHD test, which used primers for exons 4 and 7 as previously described and incorporated a new primer design for exon 5 of the RHD gene. Neonatal serology for RhD typing using cord blood at birth was undertaken and results were stored in a separate clinical database. After unblinding the data, results of the DNA analysis were compared with the neonatal serology. RESULTS: Inconclusive results secondary to the presence of the RHD pseudogene or an RHD variant were noted in 5.6%, 5.7%, and 6.1% of the first-, second-, and third-trimester samples, respectively. The incidence of false-positive rates for RhD (an RhD-negative fetus with an RHD-positive result) was 1.54% (95% confidence interval [CI] 0.42-5.44%), 1.53% (CI 0.42-5.40%), and 0.82% (CI 0.04-4.50%), respectively. There was only one false-negative diagnosis (an RhD-positive fetus with an RHD-negative result), which occurred in the first trimester (0.32%; 95% CI 0.08-1.78%). Genotyping for mismatches across repeated samples revealed that this error was related to mislabeling of samples from two patients collected on the same day at one of the collection sites. Overall test results were in agreement across all three trimesters (P>.99). CONCLUSION: Circulating cell-free DNA can accurately predict the fetal RhD status in all three trimesters of pregnancy.
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ADN/sangre , Trimestres del Embarazo/sangre , Sistema del Grupo Sanguíneo Rh-Hr/genética , Adulto , Incompatibilidad de Grupos Sanguíneos/sangre , Incompatibilidad de Grupos Sanguíneos/diagnóstico , Sistema Libre de Células , Reacciones Falso Negativas , Reacciones Falso Positivas , Femenino , Genotipo , Técnicas de Genotipaje , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Prospectivos , Globulina Inmune rho(D)/sangreRESUMEN
BACKGROUND: Ensuring residents develop operative skills requires application of the principles of guided learning, deliberate practice, and directed feedback. OBJECTIVE: We sought to create and implement a tool to promote procedural "key" step review and immediate feedback on surgical skills, and examined faculty and resident satisfaction with surgical skills feedback. METHODS: We created surgical skills feedback (SurF) cards for 8 gynecologic procedures. Faculty/fellows and residents completed prestudy surveys querying frequency of preoperative key step review and satisfaction with surgical skill feedback, a SurF card each time 1 of 8 procedures was performed, and poststudy surveys to evaluate for changes. RESULTS: Prestudy surveys were completed by 31 faculty/fellows and 20 residents, with 55% (17 of 31) of the faculty/fellows and 5% (1 of 20) of the residents reporting key step review before surgery. All reported low satisfaction rates with feedback frequency, quality, and timeliness. After implementation of SurF cards, preoperative key step review occurred in 78% (82 of 105) of the procedures. Twenty-one faculty/fellows (68%) and 16 residents (80%) completed our poststudy survey. Faculty/fellows reported statistically similar key step review (n â=â 15 [71%], P â=â .23), while residents reported that key step review had significantly improved (n â=â 6 [38%], P â=â .01). Resident satisfaction with feedback frequency (5% to 50%, P â=â .002) and quality (15% to 50%, P â=â .02) increased significantly. CONCLUSIONS: The SurF cards we developed facilitated procedural key step review, were associated with significantly improved resident satisfaction with surgical feedback, and could prove helpful with outcomes assessments, such as Accreditation Council for Graduate Medical Education-required documentation of Milestone attainment.
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OBJECTIVES: To reevaluate both discriminatory and threshold levels associated with visualization of gestational sacs, yolk sacs, and fetal poles in patients presenting with vaginal bleeding, pain, or vaginal bleeding and pain in the first trimester of pregnancy using current ultrasonographic technology. METHODS: We reviewed the records of patients with first-trimester vaginal bleeding, pelvic pain, or both who were evaluated with a serum ß-hCG level and a transvaginal ultrasonogram within 6 hours of each other and had a known pregnancy outcome. Discriminatory and threshold ß-hCG levels for visualization of a gestational sac, yolk sac, and fetal pole were identified for all ultimately viable pregnancies. Logistic regression was used to model the predicted probability of visualizing these structures as a function of ß-hCG values using fractional polynomials. RESULTS: Six hundred fifty-one pregnancies met inclusion criteria; 366 were viable. Discriminatory ß-hCG levels at which structures would be predicted to be seen 99% of the time were 3,510 milli-international units/mL, 17,716 milli-international units/mL, and 47,685 milli-international units/mL for gestational sac, yolk sac, and fetal pole, respectively. In our population, threshold values for ß-hCG levels at which these structures could be seen were 390 milli-international units/mL, 1,094 milli-international units/mL, and 1,394 milli-international units/mL, respectively. CONCLUSIONS: Improvements in ultrasonographic technology have led to lower threshold ß-hCG values for ultrasonographic visualization of early intrauterine gestational structures. However, discriminatory levels for serum ß-hCG levels were higher than values currently used in practice. LEVEL OF EVIDENCE: II.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Dolor Pélvico/sangre , Primer Trimestre del Embarazo/sangre , Hemorragia Uterina/sangre , Femenino , Edad Gestacional , Saco Gestacional/diagnóstico por imagen , Humanos , Modelos Logísticos , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Saco Vitelino/diagnóstico por imagenRESUMEN
OBJECTIVES: Transvaginal sonography is frequently used in the emergency department (ED) to triage pregnancies of unknown location. The purpose of this study was to examine the utility of sonography in clinically stable patients with ß-human chorionic gonadotropin (ß-hCG) values below the discriminatory zone. METHODS: We conducted a retrospective cohort study of 408 consecutive ED patients who presented with pregnancies of unknown location and serum ß-hCG levels between 5 and 2500 mIU/mL and underwent transvaginal sonography. Women were classified as receiving immediate treatment or expectant management. Predictors associated with immediate treatment were assessed by bivariate analyses and logistic regression. RESULTS: Of the cohort, 361 women (88.5%) received expectant management, and 6.9%, 3.1%, and 0% of patients with pregnancies of unknown location and ß-hCG levels below 1000, 200, and 75 mIU/mL, respectively, received immediate treatment. Compared to the expectant management group, women receiving immediate treatment (n=47) were further from the last menstrual period (7.86 versus 6.10 weeks; P <.01), were more likely to report pain (59.6% versus 40.2% P = .01), had higher ß-hCG levels(1183 versus 608 mIU/mL; P <.01), and had lower hematocrit levels (35.7% versus 37.0%; P < .01), with pain the most predictive factor for immediate treatment (odds ratio,5.97; 95% confidence interval, 2.45-14.53). A model combining symptoms, ß-hCG, hematocrit, and weeks since the last menstrual period predicted the likelihood of sonography changing management from expectant management to immediate treatment with specificity of 98%. CONCLUSIONS: The diagnostic utility of sonography in clinically stable patients presenting to the ED in very early pregnancy is limited. A model using symptoms, ß-hCG, hematocrit, and the last menstrual period may aid clinicians to triage those who would benefit from immediate sonography.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Complicaciones del Embarazo/sangre , Complicaciones del Embarazo/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Estudios de Cohortes , Diagnóstico Precoz , Servicio de Urgencia en Hospital , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/terapia , Estudios RetrospectivosRESUMEN
OBJECTIVE: Neural tube defects occur in 1/2000 live births. Imaging of the intracranial translucency (IT) during first-trimester screening has been proposed as an early screen for open neural tube defects (ONTD). This study evaluates visualization of the IT and factors influencing its visualization during first-trimester ultrasound screening for aneuploidy. METHODS: Ultrasound images for patients undergoing first-trimester screening for aneuploidy from January 1, 2009, through July 31, 2009, were reviewed for IT visualization, defined as an intracranial translucency parallel to the nuchal translucency. Second-trimester ultrasounds and delivery records were reviewed for the presence of fetal ONTD. RESULTS: The IT was visualized in 74.8% of 759 gestations studied at a mean gestational age of 12 weeks, 5 days. Among gestations where the IT was visualized, we found a larger crown-rump length, lower maternal weight, and more fetuses in the supine position (p < 0.0001). Predictive models for visualization of the IT were formulated based on these factors. CONCLUSION: The IT can be visualized in the majority of patients in the standard midsagittal plane used for measurement of the nuchal translucency. Visualization is significantly associated with crown-rump length, gestational age, maternal weight, and fetal position. Visualization of the IT is feasible.
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Tronco Encefálico/diagnóstico por imagen , Cuarto Ventrículo/diagnóstico por imagen , Defectos del Tubo Neural/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adulto , Aneuploidia , Peso Corporal , Largo Cráneo-Cadera , Femenino , Humanos , Edad Materna , Medida de Translucencia Nucal , Embarazo , Primer Trimestre del EmbarazoRESUMEN
BACKGROUND: Enlargement of the lateral ventricles is thought to originate from abnormal prenatal brain development and is associated with neurodevelopmental disorders. Fetal isolated mild ventriculomegaly (MVM) is associated with the enlargement of lateral ventricle volumes in the neonatal period and developmental delays in early childhood. However, little is known about postnatal brain development in these children. METHODS: Twenty-eight children with fetal isolated MVM and 56 matched controls were followed at ages 1 and 2 years with structural imaging on a 3T Siemens scanner and assessment of cognitive development with the Mullen Scales of Early Learning. Lateral ventricle, total gray and white matter volumes, and Mullen cognitive composite scores and subscale scores were compared between groups. RESULTS: Compared to controls, children with prenatal isolated MVM had significantly larger lateral ventricle volumes at ages 1 and 2 years. Lateral ventricle volume at 1 and 2 years of age was significantly correlated with prenatal ventricle size. Enlargement of the lateral ventricles was associated with increased intracranial volumes and increased gray and white matter volumes. Children with MVM had Mullen composite scores similar to controls, although there was evidence of delay in fine motor and expressive language skills. CONCLUSIONS: Children with prenatal MVM have persistent enlargement of the lateral ventricles through the age of 2 years; this enlargement is associated with increased gray and white matter volumes and some evidence of delay in fine motor and expressive language development. Further study is needed to determine if enlarged lateral ventricles are associated with increased risk for neurodevelopmental disorders.
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Discapacidades del Desarrollo/epidemiología , Enfermedades Fetales , Hidrocefalia/complicaciones , Ventrículos Cerebrales/diagnóstico por imagen , Ventrículos Cerebrales/embriología , Ventrículos Cerebrales/patología , Desarrollo Infantil , Preescolar , Discapacidades del Desarrollo/etiología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/patología , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/patología , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Embarazo , Ultrasonografía PrenatalRESUMEN
We identify characteristics that predict resolution of placenta previa and develop a clinical model for likelihood of resolution. We conducted a retrospective study of 366 singleton pregnancies complicated by placenta previa diagnosed with resolution of the previa as the primary outcome. Regression analyses were performed to determine variables associated with resolution and optimal timing for repeat sonographic evaluation. A likelihood of resolution model was created using a parametric survival model with Weibull hazard function. Of the 366 cases, 84% of complete placentae previae and 98% of marginal placentae previae resolved at a mean gestational age of 28.6 ± 5.3 weeks. Only gestational age and distance from the internal cervical os at the time of diagnosis were significantly associated with resolution ( P < 0.01). Likelihood of resolution was not significantly associated with any other variables. Marginal previae diagnosed in the second trimester do not appear to warrant repeat ultrasound evaluation for resolution.
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Edad Gestacional , Placenta Previa/diagnóstico por imagen , Remisión Espontánea , Femenino , Humanos , Funciones de Verosimilitud , Modelos Logísticos , Embarazo , Segundo Trimestre del Embarazo , Análisis de Regresión , Estudios Retrospectivos , UltrasonografíaRESUMEN
OBJECTIVE: Twin-twin transfusion syndrome complicates up to 15% of monochorionic diamniotic gestations. Current recommendations for sonographic surveillance in monochorionic diamniotic pregnancies for detection of twin-twin transfusion syndrome vary. Our objective was to determine an appropriate frequency of sonographic surveillance to optimize detection of twin-twin transfusion syndrome in monochorionic diamniotic gestations. METHODS: A retrospective cohort analysis of all nonanomalous monochorionic diamniotic twins delivered at the University of North Carolina over a 9-year period was performed. The rate and gestational age of twin-twin transfusion syndrome onset were calculated. The time to the diagnosis of twin-twin transfusion syndrome was evaluated by a Kaplan-Meier survival curve; clinical factors at initial sonography were examined for their use in prediction of twin-twin transfusion syndrome. RESULTS: Of the 577 twin deliveries, 145 (25%) were monochorionic diamniotic and included for analysis. The rate of twin-twin transfusion syndrome was 17.93% (n = 26). The mean frequency of surveillance ± SD before diagnosis of twin-twin transfusion syndrome was 3.1 ± 2.1 weeks. The mean gestational age at diagnosis of twin-twin transfusion syndrome was 21.3 ± 3.4 weeks (range, 15-29 weeks). Both a discordant maximum vertical amniotic fluid pocket (>65% difference) and a discordant estimated fetal weight (>25% difference) at initial sonography showed a significantly shorter time to diagnosis of twin-twin transfusion syndrome (P < .0001). CONCLUSIONS: Evaluation for twin-twin transfusion syndrome should begin in the second trimester. Weekly surveillance for those pregnancies with estimated fetal weight or maximum vertical pocket discordance is recommended. For those with a concordant estimated fetal weight and maximum vertical pocket, sonographic evaluation every 2 weeks is warranted to 28 to 30 weeks. After that, development of twin-twin transfusion syndrome is less likely, and a different paradigm of antenatal testing may be reasonable.
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Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/mortalidad , Vigilancia de la Población/métodos , Resultado del Embarazo/epidemiología , Gemelos Monocigóticos/estadística & datos numéricos , Ultrasonografía Prenatal/métodos , Femenino , Edad Gestacional , Humanos , Masculino , North Carolina/epidemiología , Embarazo , Prevalencia , Factores de Riesgo , Tasa de SupervivenciaRESUMEN
OBJECTIVE: Most ultrasound estimated fetal weight (EFW) formulas incorporate abdominal circumference, which may overstimate growth restriction in fetal gastroschisis. The aim of this study was to determine the optimal ultrasound formula for prediction of birthweight and fetal growth restriction (FGR) in gastroschisis. STUDY DESIGN: We conducted a retrospective cohort analysis of singleton fetuses with gastroschisis. Percentage of error between ultrasound EFW (performed within 2 weeks of delivery) and birthweight was calculated. Agreement between EFW by ultrasound formulas and birthweight was determined by Bland-Altman limits of agreement; concordance between ultrasound and birthweight diagnosis of FGR was evaluated with McNemar's test. RESULTS: Birthweight was best predicted by the formulas of Shepard et al and Siemer et al. Only these formulas demonstrated significant agreement with birthweight for prediction of FGR at the 5th and 10th percentiles. CONCLUSION: The formulas of Shepard et al and Siemer et al best estimate birthweight, and their use has the potential to reduce rates of overdiagnosis of FGR.
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Biometría/métodos , Peso al Nacer , Retardo del Crecimiento Fetal/diagnóstico por imagen , Gastrosquisis/complicaciones , Adolescente , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Adulto JovenRESUMEN
OBJECTIVE: Schizophrenia is a neurodevelopmental disorder associated with abnormalities of brain structure and white matter, although little is known about when these abnormalities arise. This study was conducted to identify structural brain abnormalities in the prenatal and neonatal periods associated with genetic risk for schizophrenia. METHOD: Prenatal ultrasound scans and neonatal structural magnetic resonance imaging (MRI) and diffusion tensor imaging were prospectively obtained in the offspring of mothers with schizophrenia or schizoaffective disorder (N=26) and matched comparison mothers without psychiatric illness (N=26). Comparisons were made for prenatal lateral ventricle width and head circumference, for neonatal intracranial, CSF, gray matter, white matter, and lateral ventricle volumes, and for neonatal diffusion properties of the genu and splenium of the corpus callosum and corticospinal tracts. RESULTS: Relative to the matched comparison subjects, the offspring of mothers with schizophrenia did not differ in prenatal lateral ventricle width or head circumference. Overall, the high-risk neonates had nonsignificantly larger intracranial, CSF, and lateral ventricle volumes. Subgroup analysis revealed that male high-risk infants had significantly larger intracranial, CSF, total gray matter, and lateral ventricle volumes; the female high-risk neonates were similar to the female comparison subjects. There were no group differences in white matter diffusion tensor properties. CONCLUSIONS: Male neonates at genetic risk for schizophrenia had several larger than normal brain volumes, while females did not. To the authors' knowledge, this study provides the first evidence, in the context of its limitations, that early neonatal brain development may be abnormal in males at genetic risk for schizophrenia.
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Encefalopatías/genética , Encéfalo/anomalías , Esquizofrenia/genética , Encéfalo/crecimiento & desarrollo , Encefalopatías/patología , Femenino , Humanos , Recién Nacido , Ventrículos Laterales/anomalías , Ventrículos Laterales/patología , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/estadística & datos numéricos , Masculino , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Embarazo , Diagnóstico Prenatal/estadística & datos numéricos , Trastornos Psicóticos/genética , Trastornos Psicóticos/patología , Esquizofrenia/patologíaRESUMEN
Prune belly syndrome is a rare congenital disorder characterized by deficiency of abdominal wall muscles, cryptorchidism, and urinary tract anomalies. We have had the opportunity to study a baby with prune belly syndrome associated with an apparently de novo 1.3-megabase interstitial 17q12 microdeletion that includes the hepatocyte nuclear factor-1-beta gene at 17q12. One previous patient, an adult, has been reported with prune belly syndrome and a hepatocyte nuclear factor-1-beta microdeletion. Hepatocyte nuclear factor-1-beta is a widely expressed transcription factor that regulates tissue-specific gene expression and is expressed in numerous tissues including mesonephric duct derivatives, the renal tubule of the metanephros, and the developing prostate of the mouse. Mutations in hepatocyte nuclear factor-1-beta cause the "renal cysts and diabetes syndrome," isolated renal cystic dysplasia, and a variety of other malformations. Based on its expression pattern and the observation of two affected cases, we propose that haploinsufficiency of hepatocyte nuclear factor-1-beta may be causally related to the production of the prune belly syndrome phenotype through a mechanism of prostatic and ureteral hypoplasia that results in severe obstructive uropathy with urinary tract and abdominal distension.
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Deleción Cromosómica , Factor Nuclear 1-beta del Hepatocito/genética , Síndrome del Abdomen en Ciruela Pasa/genética , Cromosomas Humanos Par 17/genética , Resultado Fatal , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/genética , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Riñón/patología , Masculino , Oligohidramnios/diagnóstico por imagen , Oligohidramnios/genética , Embarazo , Próstata/anomalías , Ultrasonografía Mamaria , Uretra/anomalíasRESUMEN
The increasing cost of undergraduate medical education and the decreasing availability of financial aid have resulted in the accumulation of a large debt for medical students that requires a reasonable solution. After reviewing suggested solutions to alleviate medical student debt, we have developed a unique proposal. The Strategic Alternative for Funding Education (SAFE) has the practicing physician pay for his or her medical school education after completion of residency/fellowship over a 10-year time interval when income will likely be rising. The amount paid yearly is calculated as a percent of the physician's professional income. A strategic alternative for funding education has the potential to alleviate the pending crisis in medical student debt, allows medical schools to compete for students based on the educational experience offered, and allows a student of any socioeconomic status to attend medical school and choose a medical specialty based solely on ability and desire.
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Educación Médica/economía , Internado y Residencia/economía , Facultades de Medicina/economía , Selección de Profesión , Humanos , Renta , Especialización/economía , Estudiantes de MedicinaRESUMEN
The objective of this study was to evaluate patterns of intrauterine growth in fetal gastroschisis. This was a retrospective review of prenatally diagnosed cases of fetal gastroschisis delivered at the University of North Carolina Hospital from January 2000 to January 2007. Fetal growth (biparietal diameter, head circumference, abdominal circumference, femur length, and estimated fetal weight) and amniotic fluid volume were evaluated by gestational age. Gastroschisis was diagnosed in 83 pregnancies; outcomes were available in 71 fetuses. The mean gestational age at diagnosis was 17 weeks and 1 day. The mean gestational age at delivery was 35 weeks and 4 days. Mean birth weight was 2306 g. As early as the second trimester, all morphometric measures demonstrated impaired in utero growth, with growth curves shifted to the right of the 50th percentile when compared with a standard population. Estimated fetal weight below the 10th percentile was suspected in 23% of pregnancies, and birth weight at less than the 10th percentile occurred in 47% of neonates. Amniotic fluid volumes remained stable throughout gestation. Fetuses with gastroschisis display impaired intrauterine growth, which is noted in the midsecond trimester of pregnancy and does not appear to progress throughout gestation.
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Peso al Nacer , Desarrollo Fetal , Enfermedades Fetales/diagnóstico , Gastrosquisis/diagnóstico , Diagnóstico Prenatal/métodos , Adulto , Biometría , Femenino , Enfermedades Fetales/epidemiología , Enfermedades Fetales/fisiopatología , Peso Fetal , Gastrosquisis/epidemiología , Gastrosquisis/fisiopatología , Edad Gestacional , Humanos , Recién Nacido , North Carolina/epidemiología , Embarazo , Segundo Trimestre del Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: We sought to evaluate the influence of maternal body mass index (BMI) on sonographic detection employing data from the FaSTER trial. METHOD: Unselected singleton pregnancies underwent detailed genetic sonogram to evaluate for structural fetal anomalies and soft markers for aneuploidy. BMI (kg/m(2)) were calculated from reported initial visit values. Sensitivity, specificity, false positive and false negative rates (FPR and FNR), likelihood ratio, detection rates, and a missed diagnosis rate (MDR: FNR + marker recorded as 'missing'/N) were calculated. RESULTS: Eight thousand five hundred and fifty-five patients with complete BMI information had detailed genetic sonography. A lower sensitivity with an elevated FNR and MDR was observed in obese women for multiple aneuploid markers (e.g. > or =2 markers 32% sensitivity with 68% FNR among BMI <25 vs 22% and 78% among BMI >30). Similarly, the detection rate for cardiac anomalies among women at BMI <25 was higher (21.6%) at a significantly lower FPR (78.4%; 95% CI 77.3-79.5%) in comparison to obese women (8.3% with FPR 91.7%; 95% CI 90.1-93.2%). In a logistic regression model, maternal obesity significantly decreased the likelihood of sonographic detection of common anomalies (adjusted OR 0.7; 95% CI 0.6-0.9; p = 0.001). CONCLUSION: The performance of second trimester genetic sonography is influenced by obesity, with a significantly higher MDR for multiple minor markers and lower likelihood for detecting common anomalies.
Asunto(s)
Aneuploidia , Índice de Masa Corporal , Anomalías Congénitas/diagnóstico por imagen , Obesidad/diagnóstico por imagen , Valor Predictivo de las Pruebas , Ultrasonografía Prenatal/métodos , Adulto , Biomarcadores , Anomalías Congénitas/genética , Femenino , Pruebas Genéticas/métodos , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Estudios Prospectivos , Ultrasonografía Prenatal/estadística & datos numéricosRESUMEN
We sought to determine the rate of adverse perinatal outcomes in pregnancies diagnosed with an isolated single umbilical artery (SUA). We performed a retrospective review comparing 68 pregnancies with an isolated SUA to 68 pregnancies with a three-vessel cord (3VC). Pregnancies with structural or karyotypic anomalies were excluded. Gestational age at delivery, birth weight, SGA rate, ponderal index, and rates of admission to the neonatal intensive care unit were compared between groups. Student T test and chi-square analysis were performed. Neonates with isolated SUA had a significantly smaller birth weight than those with a 3VC (3279 +/- 404 g versus 3423 +/- 374 g, P = 0.0168). There was no significant difference in rates of SGA (17.6% versus 8.8%, P = 0.06). Ponderal index was significantly less in those with SUA compared with 3VC (24.2 +/- 1.1 g/cm(3) versus 26.1 +/- 1.3 g/cm(3), P = 0.001). SUA neonates had a significantly longer length of neonatal intensive care unit stay than 3VC neonates (1.25 +/- 2.2 days versus 0.48 +/- 1.25 days, P < 0.023). Fetuses with a prenatal diagnosis of isolated umbilical artery have a significantly lower ponderal index compared with fetuses with a 3VC. Pregnancies with isolated SUA should undergo serial assessments for fetal growth.
Asunto(s)
Anomalías Congénitas/diagnóstico , Recién Nacido Pequeño para la Edad Gestacional , Complicaciones Cardiovasculares del Embarazo/epidemiología , Resultado del Embarazo , Arterias Umbilicales/anomalías , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/epidemiología , Peso al Nacer , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Anomalías Congénitas/epidemiología , Femenino , Desarrollo Fetal/fisiología , Estudios de Seguimiento , Edad Gestacional , Humanos , Incidencia , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Tiempo de Internación , Masculino , Embarazo , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Probabilidad , Estudios Retrospectivos , Medición de Riesgo , Tasa de Supervivencia , Ultrasonografía Prenatal , Arterias Umbilicales/diagnóstico por imagenRESUMEN
OBJECTIVE: To estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results. METHODS: The First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise, or contingent protocols. The maternal age-specific risk and the screening test risk were modified using likelihood ratios derived from the ultrasound findings. Separate likelihood ratios were obtained for the presence or absence of at least one major fetal structural malformation and for each "soft" sonographic marker statistically significant at the P<.005 level. Detection and false-positive rate were calculated for the genetic sonogram alone and for each test before and after risk modification. RESULTS: A total of 7,842 pregnancies were studied, including 59 with Down syndrome. Major malformations and 8 of the 18 soft markers evaluated were highly significant. The detection rate for a 5% false-positive rate for the genetic sonogram alone was 69%; the detection rate increased from 81% to 90% with the combined test, from 81% to 90% with the quadruple test, from 93% to 98% with the integrated test, from 97% to 98% with the stepwise test, and from 95% to 97% with the contingent test. The stepwise and contingent use of the genetic sonogram after first-trimester screening both yielded a 90% detection rate. CONCLUSION: Genetic sonography can increase detection rates substantially for combined and quadruple tests and more modestly for sequential protocols. Substituting sonography for quadruple markers in sequential screening was not useful. LEVEL OF EVIDENCE: II.