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OBJECTIVE: To determine the diagnostic performance of ultrasound markers associated with life-limiting fetal skeletal dysplasia in a fortified cohort. METHODS: Retrospective review from 2013 to 2023 of pregnancies with suspected fetal skeletal dysplasia. Ultrasound evaluation included measurements predictive of a life-limiting dysplasia: thoracic circumference/abdominal circumference (TC/AC) < 0.6, femur length/abdominal circumference (FL/AC) < 0.16, and thoracic circumference (TC) < 2.5th percentile. Demographics, ultrasound findings, genetic testing, and fetal/neonatal outcome were reviewed. RESULTS: Of 96 fetuses with complete outcome data, 47 (49%) had a non-life-limiting dysplasia and 49 (51%) had a life-limiting dysplasia. 22 (23%) had no life-limiting markers, 42 (44%) had one, 27 (28%) had two, and 5 (5%) had three. FL/AC < 0.16 and TC < 2.5th percentile were associated with life-limiting dysplasia (p < 0.001; p < 0.001), while TC/AC < 0.6 was rare and did not reach statistical significance (p = 0.056). The positive predictive value (PPV) for predicting life-limiting dysplasia increased from 50% to 78% to 100% with one, two, or three markers. The PPV of the two life-limiting markers was significantly higher in those diagnosed at < versus ≥ 28 weeks (90% vs. 43%, p = 0.02) but the analysis was limited by small numbers in the ≥ 28 weeks cohort. The negative predictive value of no life-limiting markers was 91%. CONCLUSIONS: In our cohort, the presence of two life-limiting ultrasound markers prior to 28 weeks was highly suggestive of a life-limiting dysplasia, whereas the absence of life-limiting markers was strongly associated with a non-life-limiting dysplasia throughout gestation. Nonetheless, individual markers had a poor predictive value of lethality, and a life-limiting diagnosis ≥ 28 weeks is challenging based on ultrasound markers alone. This highlights the importance of integrating thorough sonography, genetic testing, and balanced parental counseling.
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OBJECTIVE: To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk of genetic abnormalities in the setting of congenital heart disease (CHD). METHODS: This was a retrospective cohort study involving pregnancies that met the following criteria: (i) prenatal diagnosis of CHD, (ii) singleton live-birth, and (iii) genetic testing was performed either pre- or postnatally. Genetic results were reviewed by a clinical geneticist for updated variant classification. Fetal growth was stratified as appropriate for gestational age (AGA) or FGR. RESULTS: Of the total of 445 fetuses that met the study criteria, 325 (73.0%) were AGA and 120 (27.0%) were FGR. Genetic abnormalities were detected in 131 (29.4%) pregnancies. There was a higher rate of genetic abnormalities (36.7% vs. 26.8%, p = 0.04), which was driven by aneuploidies (20.8% vs. 8.9%, p = 0.0006) in the FGR population. Early onset growth restriction was associated with a higher rate of genetic abnormalities (44.5% vs. 25.9%, p = 0.03). The rate of genetic abnormalities was significantly higher in the shunt category as compared to remainder of the cardiac anomalies (62.5% in shunt lesions vs. 24.7%, p < 0.00001). The rates of FGR (40.9% vs. 21.4%, p < 0.0001) and genetic abnormalities (52% vs. 20.4%, p < 0.0001) were significantly higher in the presence of extra-cardiac anomalies (ECA). CONCLUSION: The presence of FGR in fetal CHD population was associated with underlying genetic abnormalities, specifically aneuploidies. Patients should be appropriately counseled regarding the higher likelihood of a genetic condition in the presence of FGR, early onset FGR, shunt lesions and ECA.
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Retardo del Crecimiento Fetal , Cardiopatías Congénitas , Humanos , Retardo del Crecimiento Fetal/genética , Retardo del Crecimiento Fetal/epidemiología , Femenino , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/epidemiología , Embarazo , Estudios Retrospectivos , Adulto , Estudios de Cohortes , Pruebas Genéticas/estadística & datos numéricos , Diagnóstico Prenatal/estadística & datos numéricosRESUMEN
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
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.
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PURPOSE: Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH). METHODS: All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy. RESULTS: Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains. CONCLUSION: The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1 year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism. Long-term follow-up is required to discern the true association between PVNH seen on prenatal imaging and postnatal seizures/epilepsy and neurodevelopmental outcomes.
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Meningomielocele , Heterotopia Nodular Periventricular , Diagnóstico Prenatal , Convulsiones , Humanos , Femenino , Masculino , Convulsiones/etiología , Convulsiones/diagnóstico por imagen , Meningomielocele/complicaciones , Meningomielocele/cirugía , Meningomielocele/diagnóstico por imagen , Lactante , Preescolar , Embarazo , Diagnóstico Prenatal/métodos , Heterotopia Nodular Periventricular/complicaciones , Heterotopia Nodular Periventricular/diagnóstico por imagen , Heterotopia Nodular Periventricular/cirugía , Imagen por Resonancia Magnética , Trastornos del Neurodesarrollo/etiología , Trastornos del Neurodesarrollo/diagnóstico por imagen , Recién NacidoRESUMEN
INTRODUCTION: The aim of the study was to identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR), irrespective of the umbilical artery (UA) Doppler abnormalities. METHODS: Single-center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010 and 2021. The presence of any of the following variables in the growth-restricted fetus: low amniotic fluid volume (DVP ≤2 cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction, and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1.50 multiples of the median was categorized as complicated. sFGR cases were classified as simple in the absence of the above-mentioned variables. RESULTS: Overall, 63.3% of cases qualified as simple, and 36.7% were complicated. Intertwin EFW discordance was higher in the complicated category (26 vs. 33%, p = 0.0002). The median gestational age at delivery was earlier (33 weeks vs. 30.5 weeks, p = 0.002), and the likelihood of survival was lower in the complicated category (p < 0.0001). The likelihood of two survivors to discharge was lower in type I complicated cases (70% in complicated type I vs. 97.1% in simple type I, p = 0.0003). On logistic regression analysis, an increase in the "complicated" score negatively correlated with two survivors to discharge (p < 0.0001). An ROC curve was created, and the AUC was 0.79. Increasing intertwin EFW discordance also decreased the probability of two survivors to discharge. CONCLUSION: The presence of oligohydramnios, lack of a cycling bladder, abnormal DV Doppler, and elevated MCA-PSV in the growth restricted fetus is associated with poor perinatal outcomes and a lower likelihood of having two survivors to discharge. The addition of intertwin EFW discordance to these variables helped improve the survival predictability.
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Retardo del Crecimiento Fetal , Embarazo Gemelar , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Estudios Retrospectivos , Retardo del Crecimiento Fetal/diagnóstico por imagen , Retardo del Crecimiento Fetal/fisiopatología , Adulto , Resultado del Embarazo/epidemiología , Arterias Umbilicales/diagnóstico por imagen , Gemelos Monocigóticos , 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
INTRODUCTION: Fetuses with large lung lesions including congenital cystic adenomatoid malformations (CCAMs) are at risk for cardiopulmonary compromise. Prenatal maternal betamethasone and cyst drainage for micro- and macrocystic lesions respectively have improved outcomes yet some lesions remain large and require resection before birth (open fetal surgery, OFS), at delivery via an Ex Utero Intrapartum Treatment (EXIT), or immediately post cesarean section (section-to-resection, STR). We sought to compare prenatal characteristics and outcomes in fetuses undergoing OFS, EXIT, or STR to inform decision-making and prenatal counseling. METHODS: A single institution retrospective review was conducted evaluating patients undergoing OFS, EXIT, or STR for prenatally diagnosed lung lesions from 2000 to 2021. Specimens were reviewed by an anatomic pathologist. Lesions were divided into "CCAMs" (the largest pathology group) and "all lung lesions" since pathologic diagnosis is not possible during prenatal evaluation when care decisions are made. Prenatal variables included initial, greatest, and final CCAM volume-ratio (CVR), betamethasone use/frequency, cyst drainage, and the presence of hydrops. Outcomes included survival, ECMO utilization, NICU length of stay (LOS), postnatal nitric oxide use, and ventilator days. RESULTS: Sixty-nine percent (59 of 85 patients) of lung lesions undergoing resection were CCAMs. Among patients with pathologic diagnosis of CCAM, the initial, largest, and final CVRs were greatest in OFS followed by EXIT and STR patients. Similarly, the incidence of hydrops was significantly greater and the rate of hydrops resolution was lower in the OFS group. Although the rate of cyst drainage did not differ between groups, maternal betamethasone use varied significantly (OFS 60.0%, EXIT 100.0%, STR 74.3%; p = 0.0378). Notably, all OFS took place prior to 2014. There was no difference in survival, ventilator days, nitric oxide, NICU LOS, or ECMO between groups. In multiple variable logistic modeling, determinants of survival to NICU discharge among patients undergoing resection with a pathologic diagnosis of CCAM included initial CVR <3.5 and need for <3 maternal betamethasone doses. CONCLUSION: For CCAMs that remain large despite maternal betamethasone or cyst drainage, surgical resection via OFS, EXIT, or STR are viable options with favorable and comparable survival between groups. In the modern era there has been a shift from OFS and EXIT procedures to STR for fetuses with persistently large lung lesions. This shift has been fueled by the increased use of maternal betamethasone and introduction of a Special Delivery Unit during the study period and the appreciation of similar fetal and neonatal outcomes for STR vs. EXIT and OFS with reduced maternal morbidity associated with a STR. Accordingly, efforts to optimize multidisciplinary perinatal care for fetuses with large lung lesions are important to inform patient selection criteria and promote STR as the preferred surgical approach in the modern era. LEVEL OF EVIDENCE: Level IV.
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Malformación Adenomatoide Quística Congénita del Pulmón , Quistes , Recién Nacido , Embarazo , Humanos , Femenino , Hidropesía Fetal/diagnóstico , Hidropesía Fetal/tratamiento farmacológico , Hidropesía Fetal/etiología , Cesárea/efectos adversos , Óxido Nítrico , Betametasona/uso terapéutico , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Ultrasonografía Prenatal , Estudios Retrospectivos , Pulmón , Quistes/complicacionesRESUMEN
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
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
INTRODUCTION: The aim of the study was to determine if markers of donor placental insufficiency and recipient cardiac dysfunction increase the risk for single fetal demise (SFD) after laser for twin-twin transfusion syndrome (TTTS). METHODS: Single-center retrospective review of patients who had laser for TTTS. Risk factors for donor and recipient demise within 1 week were compared in pregnancies with SFD and pregnancies with dual survival using χ2 or Fisher's exact test. Multivariate logistic regression was then performed. RESULTS: Of 398 procedures, 305 (76.6%) had dual survival, 36 (9.0%) had donor demise, 28 (7.0%) had recipient demise, and 9 (2.3%) had dual demise. The remaining 20 (5.0%) patients had complicated courses with pregnancy loss or further intervention. In the 64 pregnancies with SFD, 29 (81%) in the donor group and 20 (71%) in the recipient group occurred in the first postoperative week. For the donor demise group, estimated fetal weight (EFW) <10%, EFW <3%, EFW <1%, EFW discordance >25%, and EFW discordance >30% did not increase the risk for donor demise except in cases that also had umbilical artery absent or reversed end diastolic flow (AREDF). Donor AREDF was the only independent risk factor for early donor demise. For the recipient demise group, recipient abnormal venous Dopplers were associated with increased risk while EFW discordance >25% was associated with decreased risk of recipient loss. DISCUSSION/CONCLUSION: In our cohort, donor growth restriction did not increase the risk of early donor demise after laser unless there was also donor AREDF. Donor AREDF was an independent risk factor for donor demise likely due to the severity of placental insufficiency. Abnormal recipient venous Doppler indices increased the risk of early recipient loss while a large intertwin discordance decreased the risk. This may be explained by profound overload in cases with recipient abnormal venous Doppler velocimetry and a lower risk of substantial fluid shifts from a relatively smaller donor territory when there is a large discordance.
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Transfusión Feto-Fetal , Insuficiencia Placentaria , Embarazo , Humanos , Femenino , Placenta/irrigación sanguínea , Muerte Fetal/etiología , Rayos Láser , Coagulación con Láser/efectos adversos , Coagulación con Láser/métodosRESUMEN
BACKGROUND: Neurologic injury in the surviving twin is a risk after single fetal demise in a monochorionic pregnancy. OBJECTIVE: This study aimed to describe fetal magnetic resonance neuroimaging findings in pregnancies complicated by single fetal demise after laser photocoagulation for twin-twin transfusion syndrome. STUDY DESIGN: This was a single-center retrospective analysis of a cohort of prospectively collected patients in a monochorionic twin registry who had fetoscopic laser photocoagulation for twin-twin transfusion syndrome with single fetal demise at follow-up. Magnetic resonance neuroimaging was offered 3 to 4 weeks after the demise to assess for potential neurologic sequelae. Magnetic resonance images were interpreted by 2 board-certified neuroradiologists and classified as normal, mildly abnormal, or severely abnormal. The groups were compared on the basis of recipient vs donor demise using the Fisher exact test and Mann-Whitney U test. Multivariate logistic regression was performed to determine risk factors for abnormal magnetic resonance neuroimaging. RESULTS: In 378 laser photocoagulation procedures, 64 cases (16.9%) of single demise were identified (36 in the donor group and 28 in the recipient group). Of note, 6 patients had rupture of membranes with nonviable delivery (3 from each group). Moreover, 40 patients (69%) underwent magnetic resonance imaging. Of those patients, 12 (30%) had abnormal findings: 10 (83%) were associated with mild changes, and 2 (17%) were associated with severe findings. Abnormal magnetic resonance neuroimaging was seen in 3 of 22 patients (14%) after donor demise and 9 of 18 patients (50%) after recipient demise (P=.02). Logistic regression revealed that recipient vs donor demise was an independent risk factor for abnormal magnetic resonance imaging. In addition, 2 pregnancies with severe magnetic resonance imaging findings had complicated courses. CONCLUSION: Mildly abnormal magnetic resonance neuroimaging findings were common after laser photocoagulation for twin-twin transfusion syndrome complicated by single fetal demise and were more common in cases of recipient demise than donor demise. Severe magnetic resonance neuroimaging findings in this series were limited to patients with complicated peri- or postoperative courses.
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Transfusión Feto-Fetal , Femenino , Muerte Fetal/etiología , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/cirugía , Fetoscopía , Humanos , Coagulación con Láser/efectos adversos , Coagulación con Láser/métodos , Rayos Láser , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Neuroimagen/efectos adversos , Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVE: Decision-making is an integrative process during which multiple sources of available evidence are combined into a singular response. Importantly, subconscious processes occur in perceptual decisions that may influence interpretations of visually displayed data such as fetal heart rate tracings (FHRT), which are typically presented together for twins. To examine the potential impact of subconscious perceptual influences on fetal well-being, differences in assessments of FHRTs for twin gestations presented singly or paired were evaluated for baseline fetal heart rate, variability, accelerations, decelerations, and overall concern. STUDY DESIGN: Obstetrical nurses (N = 27) assessed FHRTs from 20 twin gestations (each of which had at least one live birth with a 5-min Apgar <7) presented either on the same tracing or as singletons on separate tracings. Nurses were naïve to the fact that the fetal heart rate tracings presented in the unpaired condition were the same as those presented in the paired condition. Assessments were then compared between the two conditions. RESULTS: Each nurse participant completed ratings on five metrics for each of 20 twin gestations across two conditions (80 FHRT assessments, 400 metrics total per participant). The intraobserver impact of visual context was calculated as the frequency of changed opinions regarding an individual metric (e.g. variability) between the paired and unpaired contexts for each individual fetal heart rate. Assessments of variability (average Kappa = 0.59), decelerations (average Kappa = 0.34), and overall level of concern (average Kappa = 0.33) were moderately to heavily impacted by viewing condition (unpaired vs. paired FHRT). Analysis of interobserver agreement using intraclass correlations (two-way random effect, absolute agreement) indicates poor agreement on unpaired assessments for both accelerations (ICC = 0.01, 95% CI -0.01-0.04) and decelerations (ICC = 0.22, 95% CI 0.15-0.33). These results are mirrored in poor agreement on paired assessments for both accelerations (ICC = 0.00, 95% CI -0.01-0.03) and decelerations (ICC = 0.27, 95% CI 0.19-0.39). There was moderate agreement on overall level of concern for unpaired assessments (ICC = 0.55, 95% CI 0.44-0.67) and near moderate agreement for the paired condition (ICC = 0.45, 95% CI 0.34-0.58). CONCLUSIONS: The simultaneous presentation of fetal heart rate tracings in twin gestations introduces both intraobserver and interobserver variances in the interpretation of variability, accelerations, and decelerations, likely due to the influence of subconscious perceptual decision-making. This may theoretically affect outcomes in cases in which visual information is nuanced. More research is necessary to determine whether the standard protocol of simultaneous assessment of FHRT in twins is subliminally affected by perceptual decision-making.
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Frecuencia Cardíaca Fetal , Enfermería Obstétrica , Femenino , Frecuencia Cardíaca Fetal/fisiología , Humanos , Variaciones Dependientes del Observador , Embarazo , Embarazo Múltiple , Atención PrenatalRESUMEN
AIM: The optimal gestational age (GA) at delivery and mode of delivery (MoD) for pregnancies with fetal congenital diaphragmatic hernia (CDH) is undetermined. The impact of early term (37-38 weeks 6 days) versus full term (39-40 weeks 6 days) and MoD on immediate neonatal outcomes in prenatally diagnosed isolated CDH cases was evaluated. MATERIAL AND METHODS: A retrospective chart review of pregnancies evaluated and delivered with the prenatal diagnosis of CDH between July 1, 2008, and December 31, 2018. The primary outcome was survival to hospital discharge. Secondary outcomes included neonatal intensive care unit (NICU) length of stay (LOS), extracorporeal membrane oxygenation (ECMO) requirement and need for supplemental oxygen at day 30 of life. RESULTS: A total of 296 patients were prenatally evaluated for CDH and delivered in a single center during the study period. After applying exclusion criteria, data were available on 113 women who delivered early term and 72 women who delivered full term. Survival to hospital discharge was comparable between the 2 groups - 83.2% in the early term versus 93.1% in the full term (p = 0.07; 95% CI of 0.13-1.04). No difference was observed in any other secondary outcomes. MoD was stratified into spontaneous vaginal, induced vaginal, unplanned cesarean and scheduled cesarean delivery with associated neonatal survival rates of 74.2, 90.6, 89.7 and 88.2%, respectively, p = 0.13. The 5-min Apgar score was higher in the elective cesarean group (7.94) followed by the induced vaginal delivery group (7.8) compared to 7.17 and 7.18 in the spontaneous vaginal and unplanned cesarean groups, respectively (p = 0.03). The GA and MoD did not influence survival to hospital discharge nor NICU LOS in multivariate analysis. CONCLUSIONS: Though there were no significant differences in neonatal outcomes for early term compared to full term deliveries of CDH neonates, a trend toward improved survival rates and lower ECMO requirements in the full term group may suggest an underlying importance GA at delivery. Further studies are warranted to validate these findings.
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Hernias Diafragmáticas Congénitas , Cesárea , Femenino , Edad Gestacional , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/cirugía , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios RetrospectivosRESUMEN
BACKGROUND: Open maternal-fetal surgery for in utero closure of myelomeningocele (MMC) has become an accepted treatment option for prenatally diagnosed open neural tube defects. Historically, this option has been limited to women with BMI < 35 due to concern for increasing complications in patients with obesity. OBJECTIVE: The aim of this study was to evaluate maternal, obstetric, and fetal/neonatal outcomes stratified by maternal BMI classification in women who undergo open maternal-fetal surgery for fetal myelomeningocele (fMMC) closure. METHODS: A single-center fMMC closure registry was queried for maternal demographics, preoperative factors, fetal surgery outcomes, delivery outcomes, and neonatal outcomes. Data were stratified based on maternal BMI: <30, 30-34.99, and ≥35-40, corresponding to normal weight/overweight, obesity class I, and obesity class II. Statistical analysis was performed using statistical software SAS v.9.4 (SAS Institute Inc., Cary, NC, USA). RESULTS: A total of 264 patients were analyzed, including 196 (74.2%) with BMI <30, 54 (20.5%) with BMI 30-34.99, and 14 (5.3%) with BMI ≥ 35-40. Maternal demographics and preoperative characteristics were similar among the groups. Operative time increased with increasing BMI; otherwise, perioperative outcomes were similar among the groups. Obstetric and neonatal outcomes were similar among the groups. CONCLUSION: Increasing maternal BMI did not result in a negative impact on maternal, obstetric, and fetal/neonatal outcomes in a large cohort of patients undergoing open maternal-fetal surgery for fMMC closure. Further study is warranted to determine the generalizability of these results.
Asunto(s)
Terapias Fetales , Meningomielocele , Índice de Masa Corporal , Femenino , Feto , Humanos , Recién Nacido , Meningomielocele/cirugía , Embarazo , Resultado del TratamientoRESUMEN
AIM: To describe perinatal outcomes of fetuses with a prenatal diagnosis of a concomitant lung lesion in the setting of congenital diaphragmatic hernia (CDH) and to compare outcomes with an isolated CDH control group without a lung lesion, matched by ultrasound-based prognostic markers including presence of liver herniation and lung measurements. MATERIAL AND METHODS: This was a retrospective case-control study, wherein all pregnancies diagnosed with CDH and concomitant lung lesions were identified between July 1, 2008, and December 31, 2018. For each case, 2 controls with isolated CDH from the same study period were selected after matching for the presence of liver herniation into the thoracic cavity and ultrasound-based lung measurements either observed over expected lung-to-head ratio (LHR) or absolute LHR with their corresponding gestational age. The outcomes analyzed in the 2 groups included survival to hospital discharge, neonatal intensive care unit (NICU) length of stay (LOS), extracorporeal membrane oxygenation (ECMO) requirement and need for supplemental oxygen (O2) at day 30 of life. RESULTS: A total of 21 pregnancies were identified with CDH and a concomitant lung lesion in the study period. All the lung lesions were stratified into a "low-risk category" with a congenital cystic adenomatoid malformation volume ratio of less than 1.0 at the time of presentation. None of these fetuses developed hydrops or required in utero intervention. Overall survival in the group was 80.7% (17/21) and rate of ECMO was 38.1%. Causes of mortality included pulmonary insufficiency, sepsis, renal failure, and bowel infarction. Upon comparison between the cases and controls, the 2 groups were similar with respect to pregnancy demographics. There were no fetal demises in either group. Outcomes including survival rate, NICU LOS, ECMO requirements and need for supplemental O2 at day 30 of life, were comparable among the 2 groups. CONCLUSIONS: In our descriptive series, the presence of a concomitant, low-risk lung lesion in the setting of fetal CDH did not have a significant impact on the natural course of the disease, nor was it associated with a worse prognosis.
Asunto(s)
Secuestro Broncopulmonar/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Secuestro Broncopulmonar/complicaciones , Estudios de Casos y Controles , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Femenino , Edad Gestacional , Hernias Diafragmáticas Congénitas/complicaciones , Humanos , Recién Nacido , Tiempo de Internación , Mediciones del Volumen Pulmonar , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Pronóstico , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
Congenital malformations occur in about 3% of all live births and are a leading cause of perinatal morbidity and mortality. An evolving understanding of the developing human fetus, advances in imaging, availability of cutting-edge instrumentation, and enhanced understanding of fetal pathophysiology, have allowed for prenatal surgical interventions to improve fetal diseases and neonatal outcomes. Fetal surgical therapy is no longer restricted to life-threatening prenatal diagnoses and can be categorized into either open surgical techniques or minimally invasive endoscopic/ultrasound-guided techniques. Patient selection requires a thorough multidisciplinary evaluation and shared decision-making process.
Asunto(s)
Anomalías Congénitas , Enfermedades Fetales , Feto , Atención Prenatal/métodos , Procedimientos Quirúrgicos Operativos/métodos , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/fisiopatología , Anomalías Congénitas/cirugía , Femenino , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/fisiopatología , Enfermedades Fetales/cirugía , Feto/diagnóstico por imagen , Feto/fisiopatología , Feto/cirugía , Humanos , Selección de Paciente , Embarazo , Diagnóstico Prenatal , Ajuste de Riesgo/métodosRESUMEN
Objective: To determine if vaginal misoprostol is more effective than oral misoprostol for cervical ripening in obese women.Study design: A retrospective cohort study of obese women undergoing induction of labor from Jan 2013 to Dec 2016 with singleton, viable pregnancies beyond 37 completed weeks of gestational age. Women with an initial Bishop score of 7 or less, with a cervical dilatation of less than 2 cm, who received either vaginal or oral misoprostol as a cervical ripening agent, were included. Primary outcome was interval from the start of induction to the attainment of 3 cm cervical dilatation. Secondary outcomes included the interval from the start of induction to delivery and the rate of cesarean delivery (CD).Result: Of women who met the inclusion criteria, 966 (75.5%) women received oral misoprostol and 314 (24.5%) received vaginal misoprostol. The mean time-interval from the start of induction to attainment of 3-cm dilatation was shorter in the vaginal group (10.5 ± 10.4 h) compared to the oral group (17.2 ± 11.5 h), (p < .0001). Significantly shorter times to delivery were also noted in the vaginal group (17.4 h for vaginal vs. 24.8 h for oral, p < .0001). In the subgroup analysis of nulliparous women, shorter time intervals from the start of induction to attainment of 3-cm dilatation, as well as to delivery, were noted in the vaginal misoprostol group (p < .0001 for both). Multiple linear regression model confirmed route of misoprostol administration as an independent variable in predicting the outcomes (time from start of induction to 3 cm as well as to delivery). Significant findings amongst neonatal outcomes included lower umbilical artery pH and higher rates of neonatal jaundice in the oral misoprostol group.Conclusion: In a population of obese women undergoing induction of labor, vaginal administration of misoprostol was associated shorter time intervals from the start of induction to the attainment of 3 cm of dilatation, as well as to delivery, without increasing the rate of cesarean deliveries or the incidence of adverse maternal and neonatal outcomes.
Asunto(s)
Misoprostol , Oxitócicos , Administración Intravaginal , Administración Oral , Maduración Cervical , Femenino , Humanos , Recién Nacido , Trabajo de Parto Inducido , Obesidad/complicaciones , Obesidad/tratamiento farmacológico , Oxitócicos/uso terapéutico , Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVE: To evaluate if presence of extreme maternal serum biochemical analytes recurs in consecutive pregnancies. We hypothesized that presence of >1 extreme analyte in prior pregnancy is associated with increased risk of adverse pregnancy outcome in subsequent pregnancy. METHODS: Retrospective cohort study of singleton pregnancies evaluated and delivered in 2 consecutive pregnancies (2011-2015). Adverse outcomes were defined as indicated preterm delivery before 37 completed weeks due to preeclampsia, fetal growth restriction or other complications. RESULTS: First and second trimester maternal serum analytes were assessed in 1434 patients in 2 consecutive pregnancies. The presence of >1 extreme serum analyte in prior pregnancy significantly increased likelihood of >1 extreme analyte in subsequent pregnancy. The likelihood increased as number of prior extreme markers increased. In patients with normal outcomes and 2 or more extreme serum analytes in prior pregnancy, there was an increased incidence of adverse pregnancy outcomes in subsequent pregnancy with relative risk (RR) of 5.42 [95% CI 1.6-18.3]. CONCLUSIONS: The presence of more than 1 extreme serum marker in one pregnancy increases likelihood of recurrence in subsequent pregnancies. Risk of adverse outcomes in subsequent pregnancy can be evaluated based on biochemistry results as well as prior pregnancy outcomes.