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OBJECTIVE: To assess brain development in fetuses with congenital diaphragmatic hernia (CDH) using a fetal Total Maturation Score (fTMS). STUDY DESIGN: This is a retrospective cohort study using data from a single-center clinical registry. Neonates with an antenatal diagnosis of CDH between 2014 and 2020 and prenatal brain magnetic resonance imaging (MRI) (n = 48) were included. We compared our study sample with historical healthy controls (n = 48). The relationship between fTMS and gestational age (GA), as well as the association between fTMS and key prenatal variables and placental pathologic findings, were evaluated. RESULTS: Compared with healthy controls, neonates with CDH had a significant delay in fTMS (P value <.001). Within the CDH cohort, there was no significant difference in fTMS based on CDH severity, intrathoracic liver position, right vs left CDH, sex, presence of abnormal echocardiogram findings, treatment with extracorporeal membrane oxygenation (ECMO), or in-hospital mortality. Placentas of neonates with CDH had a high proportion of fetal vascular malperfusion (56%) and chronic inflammation (67%), and relatively large placentas had a protective effect on prenatal brain maturation (P value = .025). CONCLUSIONS: Prenatal brain maturation in neonates with CDH is delayed. Placental pathology may influence fetal brain development. The etiology and clinical impact of prenatal brain immaturity in neonates with CDH warrant further investigation.
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Hernias Diafragmáticas Congénitas , Recién Nacido , Femenino , Humanos , Embarazo , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/terapia , Estudios Retrospectivos , Placenta , Diagnóstico Prenatal , Encéfalo/diagnóstico por imagenRESUMEN
BACKGROUND: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse. OBJECTIVE: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation. STUDY DESIGN: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages between 24w0d and 36w6d. The study, spanning from 2011 to 2022, involved 9 referral centers. We included singleton or twin pregnancies with documented outcomes, excluding cases where other invasive procedures were performed during pregnancy or if amniocentesis was conducted for obstetric indications. We analyzed indications for late amniocentesis, types of genetic tests performed, their results, and the diagnostic yield, along with pregnancy outcomes and postprocedure complications. RESULTS: Of the 752 pregnant individuals included in our study, late amniocentesis was primarily performed for the prenatal diagnosis of structural anomalies (91.6%), followed by suspected fetal infection (2.3%) and high-risk findings from cell-free DNA screening (1.9%). The median gestational age at the time of the procedure was 28w5d, and 98.3% of pregnant individuals received results of genetic testing before birth or pregnancy termination. The diagnostic yield was 22.9%, and a diagnosis was made 2.4 times more often for fetuses with anomalies in multiple organ systems (36.4%) compared to those with anomalies in a single organ system (15.3%). Additionally, the diagnostic yield varied depending on the specific organ system involved, with the highest yield for musculoskeletal anomalies (36.7%) and hydrops fetalis (36.4%) when a single organ system or entity was affected. The most prevalent genetic diagnoses were aneuploidies (46.8%), followed by copy number variants (26.3%) and monogenic disorders (22.2%). The median gestational age at delivery was 38w3d, with an average of 59 days between the procedure and delivery date. The overall complication rate within 2 weeks postprocedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24 and 28 weeks and those between 28 and 32 weeks, reinforcing the procedure's safety across these gestational periods. CONCLUSION: Late amniocentesis, at or after 24 weeks of gestation, especially for pregnancies complicated by multiple congenital anomalies, has a high diagnostic yield and a low complication rate, underscoring its clinical utility. It provides pregnant individuals and their providers with a comprehensive diagnostic evaluation and results before delivery, enabling informed counseling and optimized perinatal and neonatal care planning.
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BACKGROUND: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray. The CSP and thymus were routinely measured during anatomical ultrasound in all patients at their initial visit at 27.1 ± 4.7 weeks. The CSP and thymus measurements were classified as abnormal if they were >95% or <5% for gestational age, respectively. The groups were compared using analysis of variance or Kruskal-Wallis for continuous variables and Fisher's exact test for categorical variables. Logistic regression was performed, and a Receiver Operating Characteristic (ROC) curve was constructed. RESULTS: We identified 47 fetuses with 22q11.2 deletion syndrome and compared them to 47 fetuses with conotruncal anomalies and normal microarray and 47 structurally normal fetuses with normal microarray. 51% (24/47) of fetuses with 22q11.2 deletion syndrome had an enlarged CSP compared to 6% (3/47) of fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). Of the fetuses with 22q11.2 deletion syndrome, 83% (39/47) had a hypoplastic or absent thymus compared to 9% (4/47) of the fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). 87% (41/47) of the fetuses with 22q11.2 deletion syndrome had conotruncal cardiac anomalies. Logistic regression revealed that both enlarged CSP and hypoplastic/absent thymus were associated with 22q11.2 deletion syndrome. The area under the ROC curve for the two markers was 0.94. CONCLUSION: An enlarged CSP and hypoplastic/absent thymus appear to be part of the fetal phenotype of 22q11.2 deletion syndrome. These markers are associated with conotruncal anomalies in the setting of 22q11.2 deletion syndrome but not in normal controls or fetuses with conotruncal defects and normal microarrays.
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Síndrome de DiGeorge , Tabique Pelúcido , Timo , Ultrasonografía Prenatal , Humanos , Femenino , Timo/anomalías , Timo/diagnóstico por imagen , Embarazo , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/diagnóstico por imagen , Estudios de Casos y Controles , Adulto , Tabique Pelúcido/anomalías , Tabique Pelúcido/diagnóstico por imagen , Biomarcadores , Estudios RetrospectivosRESUMEN
INTRODUCTION: Randomized controlled trials found that fetoscopic endoluminal tracheal occlusion (FETO) resulted in increased fetal lung volume and improved survival for infants with isolated, severe left-sided congenital diaphragmatic hernia (CDH). The delivery room resuscitation of these infants is particularly unique, and the specific delivery room events are largely unknown. The objective of this study was to compare the delivery room resuscitation of infants treated with FETO to standard of care (SOC) and describe lessons learned. METHODS: Retrospective single-center cohort study of infants treated with FETO compared to infants who met FETO criteria during the same period but who received SOC. RESULTS: FETO infants were more likely to be born prematurely with 8/12 infants born <35 weeks gestational age compared to 3/35 SOC infants. There were 5 infants who required emergent balloon removal (2 ex utero intrapartum treatment and 3 tracheoscopic removal on placental bypass with delayed cord clamping) and 7 with prenatal balloon removal. Surfactant was administered in 6/12 FETO (50%) infants compared to 2/35 (6%) in the SOC group. Extracorporeal membrane oxygenation use was lower at 25% and survival was higher at 92% compared to 60% and 71% in the SOC infants, respectively. CONCLUSION: The delivery room resuscitation of infants treated with FETO requires thoughtful preparation with an experienced multidisciplinary team. Given increased survival, FETO should be offered to infants with severe isolated left-sided CDH, but only in high-volume centers with the experience and capability of removing the balloon, emergently if needed. The neonatal clinical team must be skilled in managing the unique postnatal physiology inherent to FETO where effective interdisciplinary teamwork is essential. Empiric and immediate surfactant administration should be considered in all FETO infants to lavage thick airway secretions, particularly those delivered <48 h after balloon removal.
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Oclusión con Balón , Hernias Diafragmáticas Congénitas , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Oclusión con Balón/métodos , Estudios de Cohortes , Salas de Parto , Fetoscopía/métodos , Hernias Diafragmáticas Congénitas/cirugía , Placenta , Estudios Retrospectivos , Tensoactivos , Tráquea/cirugíaRESUMEN
Infants with congenital diaphragmatic hernia (CDH) benefit from comprehensive multidisciplinary teams that have experience in caring for the unique and complex issues associated with CDH. Despite prenatal referral to specialized high-volume centers, advanced ventilation strategies and pulmonary hypertension management, and extracorporeal membrane oxygenation, mortality and morbidity remain high. These infants have unique and complex issues that begin in fetal and infant life, but persist through adulthood. Here we will review the literature and share our clinical care pathway for neonatal care and follow up. While many advances have occurred in the past few decades, our work is just beginning to continue to improve the mortality, but also importantly the morbidity of CDH.
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INTRODUCTION: We sought to determine if maternal obesity, defined by body mass index (BMI) 30-34.9 or BMI ≥35, negatively impacts the technical aspects and pregnancy outcomes in women treated with selective laser photocoagulation of placental communicating vessels for twin-twin transfusion syndrome (TTTS). METHODS: Retrospective review of women undergoing laser for TTTS from January 2010 to December 2021. Outcomes were stratified based on maternal BMI <30, 30-34.9, and ≥35. Data obtained included maternal age, parity, ethnicity, gestational age at laser, placental location, Quintero stage, CHOP cardiovascular score, operative and anesthesia times, procedure-to-delivery interval, gestational age at delivery, survival to birth, survival to discharge, and the presence of residual anastomoses. Statistical analysis included the χ2 or Fisher's exact test for categorical variables and the Mann-Whitney U test for continuous variables with p < 0.05 being significant. RESULTS: A total of 434 women underwent laser for TTTS during the study period. Of those, 274 (63%) had a BMI of <30, 92 (21.2%) had a BMI between 30 and 34.9, and 68 (15.7%) had a BMI ≥ 35. There were no differences in maternal age, parity or ethnicity, Quintero stage, CHOP cardiovascular score, placental location, operative time, laser-to-delivery interval, gestational age at delivery, survival outcomes, or the presence of residual anastomoses between the three groups. Patients with a BMI of 30-34.9 were operated on at a slightly later gestational age, and those with a BMI > 35 had longer operative and anesthesia times. There were no technical failures as a result of BMI ≥ 30 or 35. CONCLUSION: Using appropriate technical adjustments, outcomes for obese women undergoing laser for TTTS are similar to nonobese women, although patients with BMI ≥35 have longer operative and anesthesia times.
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Transfusión Feto-Fetal , Terapia por Láser , Femenino , Humanos , Embarazo , Transfusión Feto-Fetal/cirugía , Fetoscopía , Coagulación con Láser , Placenta , Terapia por Láser/efectos adversos , Resultado del Embarazo , Edad Gestacional , Estudios Retrospectivos , Obesidad/complicaciones , Obesidad/cirugía , Embarazo GemelarRESUMEN
OBJECTIVES: To determine whether an abnormal orientation of the abdominal or hepatic vasculature and an abnormal gallbladder position on prenatal ultrasound (US) imaging are associated with intrathoracic liver herniation and postnatal outcomes in cases of congenital diaphragmatic hernia (CDH). METHODS: Children who underwent prenatal US examinations and postnatal CDH repair at our institution were eligible. Prenatal US images were reviewed, and the orientation of the superior mesenteric artery (SMA) and hepatic veins as well as gallbladder position were recorded. Findings were correlated with prenatal US measurements (lung-to-head ratio and calculated observed-to-expected lung-to-head ratio) and postnatal outcomes, including intrathoracic liver herniation, an extracorporeal membrane oxygenation (ECMO) requirement, and mortality. RESULTS: A total of 175 patients met inclusion criteria. The SMA was shown in 168 cases and had a cephalad orientation in 95.4% (161 of 168), which was not associated with outcome measures and represented bowel herniation. A cephalad orientation of the hepatic veins was identified in 52.6% (90 of 171) and was associated with intrathoracic liver herniation, an ECMO requirement, and mortality (P < .01). In right-sided CDH, the gallbladder was intrathoracic in 91.3% (21 of 23). In left-sided CDH, an abnormal gallbladder position was seen in 51.3% (76/152) and was associated with intrathoracic liver herniation, an ECMO requirement, mortality, and lower lung-to-head ratio and observed-to-expected lung-to-head ratio values. When combined, abnormal hepatic vein and gallbladder positions showed good sensitivity and specificity in predicting intrathoracic liver herniation (area under the curve, 0.93). CONCLUSIONS: Abnormal SMA, hepatic vein, and gallbladder positions can be used to improve prenatal characterization of CDH. Accurate depiction of these structures on prenatal US images may aid in patient counseling and postnatal management.
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Abdomen/irrigación sanguínea , Vesícula Biliar/anatomía & histología , Vesícula Biliar/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/diagnóstico , Hígado/irrigación sanguínea , Ultrasonografía Prenatal/métodos , Abdomen/diagnóstico por imagen , Abdomen/embriología , Femenino , Vesícula Biliar/embriología , Hernias Diafragmáticas Congénitas/cirugía , Humanos , Recién Nacido , Hígado/diagnóstico por imagen , Hígado/embriología , Masculino , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
INTRODUCTION: Fetuses with "high-risk" sacrococcygeal teratoma (SCT) have a mortality rate of 40-50%. While fetal surgery may benefit select fetuses prior to 27 weeks' gestation, many fetuses die due to consequences of rapid tumor growth after 27 weeks. Here we report our experience applying "preemptive" delivery to fetuses who manifest signs of decompensation between 27 and 32 weeks. METHODS: A retrospective review of SCT fetuses delivered between 2010 and 2016 at ≤32 weeks' gestation was performed. Patients who decompensated prior to 27 weeks and were treated with fetal surgery or neonatal palliation were excluded. RESULTS: Forty-two SCT fetuses were evaluated, and 11 were preemptively delivered in response to impending fetal or maternal decompensation. Nine (81.8%) survived. One death was due to pulmonary hypoplasia in a neonate with significant intra-abdominal tumor burden, and the other was due to in utero tumor rupture. There were no deaths related to prematurity in this cohort. CONCLUSIONS: Many fetuses with SCT manifest signs of decompensation between 27 and 32 weeks. In the absence of fetal hydrops prior to 27 weeks or tumor rupture in utero, early delivery is associated with favorable outcomes. Our single-center experience supports a management algorithm change to incorporate "preemptive" delivery for selected cases.
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Enfermedades Fetales/cirugía , Región Sacrococcígea/cirugía , Neoplasias de la Columna Vertebral/cirugía , Teratoma/cirugía , Parto Obstétrico , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/patología , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Región Sacrococcígea/diagnóstico por imagen , Región Sacrococcígea/patología , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/patología , Teratoma/diagnóstico por imagen , Teratoma/patología , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: Tumor volume to fetal weight ratio (TFR) > 0.12 before 24 weeks has been associated with poor outcome in fetuses with sacrococcygeal teratoma (SCT). We evaluated TFR in predicting poor fetal outcome and increased maternal operative risk in our cohort of SCT pregnancies. METHODS: This is a retrospective, single-center review of fetuses seen with SCT from 1997 to 2015. Patients who chose termination of pregnancy (TOP), delivered elsewhere, or had initial evaluation at > 24 weeks were excluded. Receiver operating characteristic (ROC) analysis determined the optimal TFR to predict poor fetal outcome and increased maternal operative risk. Poor fetal outcome included fetal demise, neonatal demise, or fetal deterioration warranting open fetal surgery or delivery < 32 weeks. Increased maternal operative risk included cases necessitating open fetal surgery, classical cesarean delivery, or ex utero intrapartum treatment (EXIT). RESULTS: Of 139 pregnancies with SCT, 27 chose TOP, 14 delivered elsewhere, and 40 had initial evaluation at > 24 weeks. Thus, 58 fetuses were reviewed. ROC analysis revealed that at ≤24 weeks, TFR > 0.095 was predictive of poor fetal outcome and TFR > 0.12 was predictive of increased maternal operative risk. CONCLUSION: This study supports the use of TFR at ≤24 weeks for risk stratification of pregnancies with SCT.
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Peso Fetal , Resultado del Embarazo , Región Sacrococcígea/cirugía , Teratoma/cirugía , Adulto , Femenino , Muerte Fetal , Fetoscopía , Humanos , Modelos Logísticos , Análisis Multivariante , Muerte Perinatal , Embarazo , Curva ROC , Estudios Retrospectivos , Medición de Riesgo , Región Sacrococcígea/diagnóstico por imagen , Región Sacrococcígea/patología , Teratoma/diagnóstico por imagen , Teratoma/patología , Carga Tumoral , Ultrasonografía PrenatalRESUMEN
OBJECTIVES: To assess the ability of prenatal ultrasound (US) in identifying systemic feeding arteries in bronchopulmonary sequestrations and hybrid lesions and report the ability of US in classifying bronchopulmonary sequestrations as intralobar or extralobar. METHODS: Institutional Review Board-approved radiology and clinical database searches from 2008 to 2015 were performed for prenatal lung lesions with final diagnoses of bronchopulmonary sequestrations or hybrid lesions. All patients had detailed US examinations, and most patients had ultrafast magnetic resonance imaging (MRI). Lesion location, size, and identification of systemic feeding arteries and draining veins were assessed with US. RESULTS: The study consisted of 102 bronchopulmonary sequestrations and 86 hybrid lesions. The median maternal age was 30 years. The median gestational age was 22 weeks 5 days. Of bronchopulmonary sequestrations, 66 had surgical pathologic confirmation, and 100 had postnatal imaging. Bronchopulmonary sequestration locations were intrathoracic (n = 77), intra-abdominal (n = 19), and transdiaphragmatic (n = 6). Of hybrid lesions, 84 had surgical pathologic confirmation, and 83 had postnatal imaging. Hybrid lesion locations were intrathoracic (n = 84) and transdiaphragmatic (n = 2). Ultrasound correctly identified systemic feeding arteries in 86 of 102 bronchopulmonary sequestrations and 79 of 86 hybrid lesions. Of patients who underwent MRI, systemic feeding arteries were reported in 62 of 92 bronchopulmonary sequestrations and 56 of 81 hybrid lesions. Ultrasound identified more systemic feeding arteries than MRI in both bronchopulmonary sequestrations and hybrid lesions (P < .01). Magnetic resonance imaging identified systemic feeding arteries that US did not in only 2 cases. In cases in which both systemic feeding arteries and draining veins were identified, US could correctly predict intrathoracic lesions as intralobar or extralobar in 44 of 49 bronchopulmonary sequestrations and 68 of 73 hybrid lesions. CONCLUSIONS: Ultrasound is most accurate for systemic feeding artery detection in bronchopulmonary sequestrations and hybrid lesions and can also type the lesions as intralobar or extralobar when draining veins are evaluated.
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Secuestro Broncopulmonar/diagnóstico por imagen , Pulmón/anomalías , Pulmón/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adolescente , Adulto , Secuestro Broncopulmonar/embriología , Diagnóstico Diferencial , Femenino , Humanos , Pulmón/embriología , Persona de Mediana Edad , Embarazo , Adulto JovenRESUMEN
AIM OF THE STUDY: To evaluate if gestational age (GA), mode of delivery and abdominal wall closure method influence outcomes in uncomplicated gastroschisis (GTC). METHODS: Retrospective review of NICU admissions for gastroschisis, August 2008-July 2016. Primary outcomes were: time to start enteral feeds (on-EF), time to discontinue parenteral nutrition (off-PN), and length of stay (LOS). MAIN RESULTS: A total of 200 patients with GTC were admitted to our NICU. Patients initially operated elsewhere (n = 13) were excluded. Patients with medical/surgical complications (n = 62) were analyzed separately. The study included 125 cases of uncomplicated GTC. There were no statistically significant differences in the outcomes of patients born late preterm (34 0/7-36 6/7; n = 70) and term (n = 40): on-EF 19 (5-54) versus 17 (7-34) days (p = 0.29), off-PN 32 (12-101) versus 30 (16-52) days (p = 0.46) and LOS 40 (18-137) versus 37 (21-67) days (p = 0.29), respectively. Patients born before 34 weeks GA (n = 15) had significantly longer on-EF, off-PN and LOS times compared to late preterm patients: 26 (12-50) days (p = 0.01), 41 (20-105) days (p = 0.04) and 62 (34-150) days (p < 0.01), respectively. There were no significant differences in outcomes between patients delivered by C-section (n = 62) and patients delivered vaginally (n = 63): on-EF 20 (5-50) versus 19 (7-54) days (p = 0.72), off-PN 32 (12-78) versus 33 (15-105) days (p = 0.83), LOS 42 (18-150) versus 41 (18-139) days (p = 0.68), respectively. There were significant differences in outcomes between patients who underwent primary reduction (n = 37) and patients who had a silo (88): on-EF 15 (5-37) versus 22 (6-54) days (p < 0.01), off-PN 28 (12-52) versus 34 (15-105) days (p = 0.04), LOS 36 (18-72) versus 44 (21-150) days (p = 0.04), respectively. CONCLUSION: In our experience, late preterm delivery did not affect outcomes compared to term delivery in uncomplicated GTC. Outcomes were also not influenced by the mode of delivery. Patients who underwent primary reduction had better outcomes than patients who underwent silo placement.
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Pared Abdominal/cirugía , Cesárea , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Gastrosquisis/cirugía , Recien Nacido Prematuro , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Tiempo de Internación , Masculino , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Monochorionic twins are at risk for complications due to the presence of placental vascular anastomoses, including twin-twin transfusion syndrome, twin anemia-polycythemia sequence, selective fetal growth restriction, and twin reversed arterial perfusion sequence. While ultrasound is the primary modality to screen for the development of these complications, MRI plays an important role in assessing monochorionic twin pregnancies for the development of other complications, such as neurologic injury. In this article, the authors review the ultrasound imaging findings associated with monochorionic twin complications, management options, and the role for MRI in these pregnancies.
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Transfusión Feto-Fetal , Fetoscopía , Imagen por Resonancia Magnética , Humanos , Embarazo , Fetoscopía/métodos , Femenino , Imagen por Resonancia Magnética/métodos , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/cirugía , Embarazo Gemelar , Ultrasonografía Prenatal/métodos , Gemelos MonocigóticosRESUMEN
Importance: Neurodevelopmental outcomes for children with congenital heart defects (CHD) have improved minimally over the past 20 years. Objectives: To assess the feasibility and tolerability of maternal progesterone therapy as well as the magnitude of the effect on neurodevelopment for fetuses with CHD. Design, Setting, and Participants: This double-blinded individually randomized parallel-group clinical trial of vaginal natural progesterone therapy vs placebo in participants carrying fetuses with CHD was conducted between July 2014 and November 2021 at a quaternary care children's hospital. Participants included maternal-fetal dyads where the fetus had CHD identified before 28 weeks' gestational age and was likely to need surgery with cardiopulmonary bypass in the neonatal period. Exclusion criteria included a major genetic or extracardiac anomaly other than 22q11 deletion syndrome and known contraindication to progesterone. Statistical analysis was performed June 2022 to April 2024. Intervention: Participants were 1:1 block-randomized to vaginal progesterone or placebo by diagnosis: hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and other CHD diagnoses. Treatment was administered twice daily between 28 and up to 39 weeks' gestational age. Main Outcomes and Measures: The primary outcome was the motor score of the Bayley Scales of Infant and Toddler Development-III; secondary outcomes included language and cognitive scales. Exploratory prespecified subgroups included cardiac diagnosis, fetal sex, genetic profile, and maternal fetal environment. Results: The 102 enrolled fetuses primarily had HLHS (n = 52 [50.9%]) and TGA (n = 38 [37.3%]), were more frequently male (n = 67 [65.7%]), and without genetic anomalies (n = 61 [59.8%]). The mean motor score differed by 2.5 units (90% CI, -1.9 to 6.9 units; P = .34) for progesterone compared with placebo, a value not statistically different from 0. Exploratory subgroup analyses suggested treatment heterogeneity for the motor score for cardiac diagnosis (P for interaction = .03) and fetal sex (P for interaction = .04), but not genetic profile (P for interaction = .16) or maternal-fetal environment (P for interaction = .70). Conclusions and Relevance: In this randomized clinical trial of maternal progesterone therapy, the overall effect was not statistically different from 0. Subgroup analyses suggest heterogeneity of the response to progesterone among CHD diagnosis and fetal sex. Trial Registration: ClinicalTrials.gov Identifier: NCT02133573.
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Cardiopatías Congénitas , Progesterona , Humanos , Progesterona/uso terapéutico , Femenino , Cardiopatías Congénitas/tratamiento farmacológico , Cardiopatías Congénitas/complicaciones , Masculino , Embarazo , Método Doble Ciego , Lactante , Adulto , Recién Nacido , Desarrollo Infantil/efectos de los fármacos , Progestinas/uso terapéutico , Trastornos del NeurodesarrolloRESUMEN
BACKGROUND: Selective cord occlusion is an option in complicated monochorionic multiple gestations with the goal of reducing the pregnancy by one fetus and to optimize the outcomes for the remaining fetus(es). OBJECTIVE: This study aimed to determine the rate and associated risk factors of dual demise in complex monochorionic pregnancies after selective cord occlusion via radiofrequency ablation. STUDY DESIGN: This was a single-center analysis of a prospective registry cohort of complex monochorionic pregnancies managed with selective cord occlusion via radiofrequency ablation between 2014 and 2021. A total of 167 pregnancies met the inclusion criteria and were evaluated on the basis of the intended outcome of dual demise vs singleton survival. Risk factors were compared between the 2 groups. The Mann-Whitney U test was used for continuous variables and the Fisher exact test was used for categorical variables. RESULTS: The incidence of postprocedure dual demise within the first week after performing radiofrequency ablation was 10.8% (18/167). The risk was higher in pregnancies undergoing radiofrequency ablation for discordant anomaly, and this subcategory constituted 38.9% of pregnancies in the dual demise subgroup (P=.02). Lower intertwin estimated fetal weight discordance (P=.01) was associated with dual demise. Perioperative variables including gestational age at procedure, placental cord insertion distance, operative time, and radiofrequency ablation time were similar in those with and without dual demise. CONCLUSION: Our results show that selective cord occlusion via radiofrequency ablation is a safe and reasonable option in complicated monochorionic pregnancies, with low rates of dual demise within the first week after the procedure.
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Placenta , Ablación por Radiofrecuencia , Embarazo , Femenino , Humanos , Gemelos Monocigóticos , Atención Prenatal , Edad GestacionalRESUMEN
BACKGROUND: The rate of polyhydramnios is higher in pregnancies complicated by congenital anomalies. These pregnancies have higher rates of peripartum complications. Amnioreduction is offered to relieve maternal symptoms such as dyspnea, abdominal and respiratory discomfort, and other issues like satiety. OBJECTIVE: This study aimed to report the rates of amnioreduction and its associated complications in pregnancies with moderate to severe polyhydramnios secondary to fetal anomalies. We also sought to determine if amnioreduction provided additional benefits, including prolongation of pregnancy and a decrease in the rates of peripartum morbidities associated with moderate to severe polyhydramnios. STUDY DESIGN: This was a retrospective review of anomalous singleton pregnancies with moderate to severe polyhydramnios that were evaluated and delivered at a single center between 2013 and 2021. Peripartum outcomes were compared between pregnancies that underwent amnioreduction and those that were expectantly managed. Mann-Whitney U tests were used to compare continuous variables and Fisher's exact tests were used for categorical variables. A multiple regression model was created to understand the effects of amnioreduction on gestational age at delivery. RESULTS: A total of 218 singleton pregnancies met the inclusion criteria of moderate to severe polyhydramnios in the study period. Of those, 110 patients (50.5%) underwent amnioreduction and 108 patients (49.5%) opted for expectant management. A total of 147 procedures were performed at a median gestational age of 32.5 weeks and a median of 1900 mL of amniotic fluid was removed per procedure. Complications occurred in 10.9% (n=16) of procedures, including preterm delivery within 48 hours in 5.4% cases (n=8). The median amniotic fluid index was higher in the amnioreduction group than in the expectant group (38.9 cm vs 35.5 cm; P<.0001). Patients who underwent amnioreduction had an earlier median gestational age at delivery (36.3 weeks vs 37.0 weeks; P=.048), however, the rates of spontaneous preterm delivery were similar. A higher percentage of women in the amnioreduction group had vaginal delivery (49.4% vs 30.5%; P=.01) and lower rates of uterine atony (2.4% vs 13.7%; P=.006). In the multiple linear regression analysis, the gestational age at delivery positively correlated with gestational age at amnioreduction after controlling for amniotic fluid volume (P<.0001; 95% confidence interval, 0.34-0.71). In addition, the patients in the amnioreduction group were twice as likely to have a vaginal delivery (P=.02). CONCLUSION: Amnioreduction in the setting of moderate-severe polyhydramnios has a reasonably low rate of complications but does not provide any benefits in terms of prolonging the pregnancy. The procedure may increase the likelihood of vaginal delivery and lower the rates of uterine atony.
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Polihidramnios , Nacimiento Prematuro , Inercia Uterina , Embarazo , Recién Nacido , Humanos , Femenino , Lactante , Polihidramnios/diagnóstico , Polihidramnios/epidemiología , Polihidramnios/etiología , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Espera Vigilante , Líquido AmnióticoRESUMEN
PURPOSE: To investigate antenatally-determined imaging characteristics associated with invasive airway management at birth in patients with cervical masses, as well as to describe postnatal management and outcomes. STUDY DESIGN: A retrospective analysis of 52 patients with antenatally diagnosed neck masses was performed using single-center data from January 2008 to January 2019. Antenatal imaging, method of delivery, management, and outcomes data were abstracted from the medical record and analyzed. RESULTS: Antenatal diagnosis of neck masses in this cohort consisted of 41 lymphatic malformations (78.8%), 6 teratomas (11.5%), 3 hemangiomas (5.8%), 1 hemangioendothelioma (1.9%), and 1 giant foregut duplication cyst (1.9%). Mean gestational age at time of diagnostic imaging was 29 weeks 3 days (range: 19w4d - 37w). Overall, 22 patients (42.3%) required invasive airway management at birth, specifically 18 patients (34.6%) required endotracheal intubation and 4 (7.7%) required tracheostomy. 15 patients (28.8%) underwent ex-utero intrapartum treatment (EXIT) for the purposes of securing an airway. Polyhydramnios, tracheal deviation and compression, and anterior mass location on antenatal imaging were significantly associated with incidence of invasive airway intervention at birth, EXIT procedure, and tracheostomy during the neonatal hospitalization (p < 0.025; Fisher's exact test). Logistic regression analysis demonstrated statistically significant association between increasing antenatally-estimated mass volume and incidence of invasive airway management at birth (p = 0.02). Post-natal cervical mass management involved surgical excision (32.7%), sclerotherapy (50%), and adjuvant therapy with rapamycin (17.3%). Demise in the neonatal period occurred in 4 (7.7%) patients. CONCLUSION: This series documents the largest single-center experience of airway management in antenatally diagnosed cervical masses. Fetal imaging characteristics may help inform the appropriate method of delivery, airway management strategy at birth, and prenatal counseling.
Asunto(s)
Obstrucción de las Vías Aéreas , Teratoma , Manejo de la Vía Aérea , Obstrucción de las Vías Aéreas/diagnóstico por imagen , Obstrucción de las Vías Aéreas/etiología , Análisis Factorial , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Ultrasonografía PrenatalRESUMEN
AIM OF THE STUDY: To evaluate the outcomes of neonates with complex gastroschisis (GC), and correlate outcomes with each type of complication. METHODS: Retrospective review of patients with complex GC owing to prenatal and/or postnatal abdominal complications; 2008-2016. Primary outcomes: time to discontinue parenteral nutrition (off-PN), length of stay (LOS) and neonatal survival. MAIN RESULTS: We treated 58 patients with complex gastroschisis owing to abdominal complications, which were: intestinal necrosis at birth (n=9), intestinal atresia (n=16), medical necrotizing enterocolitis (NEC) (n=15), surgical NEC (n=1), in utero volvulus (n=1), vanishing gastroschisis (n=2), severe intestinal dysmotility (n=1), delayed abdominal closure (n=3), abdominal compartment syndrome (n=2) and hiatal hernia/severe gastroesophageal reflux disease (GERD; n=11). The off-PN time and LOS of the whole group were 92 (35-255) and 119 (42-282) days, significantly longer than those of a demographically equivalent contemporaneous series of 125 patients with uncomplicated gastroschisis (off-PN 32 [12-105] days [p<0.001]; LOS 41 [18-150] days [p<0.001]). Patients with intestinal necrosis at birth or with intestinal atresia had the longest off-PN and LOS times (133 [38-255] / 157 [43-282] and 114 [36-222] / 143 [42-262] days, respectively), followed by patients with complications of the abdominal wall closure (n=5) (69 [43-93] / 89 [58-110] days), patients with hiatal hernias/severe GERD who required fundoplication (63 [35-84] / 89 [57-123] days) and patients who developed medical NEC (67 [35-103] / 76 [50-113] days). Short-bowel syndrome/PN-dependence occurred in 6/58 (10%) patients (2 vanishing gastroschisis, 1 in utero volvulus, 2 intestinal atresias and 1 bowel necrosis at birth). There were no neonatal mortalities. CONCLUSION: Gastroschisis can be complicated by a wide variety of prenatal and postnatal events. The most severe outcomes occur in patients with bowel necrosis at birth, intestinal atresias, or vanishing gastroschisis. Complications, however, did not affect neonatal survival in our experience. LEVEL OF EVIDENCE: III.
Asunto(s)
Gastrosquisis , Gastrosquisis/complicaciones , Gastrosquisis/epidemiología , Gastrosquisis/cirugía , Humanos , Recién Nacido , Tiempo de Internación , Nutrición Parenteral , Derivación y Consulta , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
OBJECTIVE: The purpose of this study was to determine the clinical utility of CA125 measurement in patients with uterine carcinosarcoma (CS). METHODS: Ninety-five consecutive patients treated for CS at a single institution were identified. All 54 patients who underwent preoperative CA125 measurement were included in the study. Data were abstracted from the medical records. Tests of association between preoperative CA125 and previously identified clinicopathologic prognostic factors were performed using Fisher's exact test and Pearson chi-square test. To evaluate the relationship of CA125 elevation and survival, a Cox proportional hazard model was used for multivariate analysis, incorporating all of the prognostic factors identified by univariate analysis. RESULTS: Preoperative CA125 was significantly associated with the presence of extrauterine disease (P<0.001), deep myometrial invasion (P<0.001), and serous histology of the epithelial component (P=0.005). Using univariate survival analysis, stage (HR=1.808, P=0.004), postoperative CA125 level (HR=9.855, P<0.001), and estrogen receptor positivity (HR=0.314, P=0.029) were significantly associated with survival. In the multivariate model, only postoperative CA125 level remained significantly associated with poor survival (HR=5.725, P=0.009). CONCLUSION: Preoperative CA125 elevation is a marker of extrauterine disease and deep myometrial invasion in patients with uterine CS. Postoperative CA125 elevation is an independent prognostic factor for poor survival. These findings indicate that CA125 may be a clinically useful serum marker in the management of patients with CS.
Asunto(s)
Antígeno Ca-125/sangre , Carcinosarcoma/sangre , Carcinosarcoma/patología , Neoplasias Uterinas/sangre , Neoplasias Uterinas/patología , Anciano , Femenino , Humanos , Persona de Mediana Edad , Miometrio/patología , Invasividad Neoplásica , Estadificación de Neoplasias , Modelos de Riesgos Proporcionales , Tasa de SupervivenciaRESUMEN
OBJECTIVE: This study was undertaken to evaluate the ability of preoperative endometrial sampling to accurately diagnose high-grade endometrial tumors. STUDY DESIGN: Three hundred sixty endometrial cancer patients had preoperative endometrial sampling and hysterectomy specimens that underwent pathologic review at a single institution from 1995 to 2005. The sensitivity of Pipelle and curettage to diagnose high-grade endometrial tumors (grade 3 endometrioid adenocarcinoma, serous carcinoma, carcinosarcoma, clear cell carcinoma) was determined. Agreement between preoperative and hysterectomy diagnoses was measured by the Kappa statistic. RESULTS: Sensitivity of Pipelle and curettage was 93.8% and 97% in patients with low-grade cancer and 99.2% and 100% in patients with high-grade cancer. Good agreement was observed between the preoperative and the hysterectomy histologic diagnoses (Kappa = 0.69), and between the preoperative and hysterectomy tumor grade (Kappa=0.78). CONCLUSION: Preoperative endometrial sampling with Pipelle or curettage is sensitive and accurate for the diagnosis of high-grade endometrial tumors, including tumors with nonendometrioid histology.