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1.
Am J Obstet Gynecol ; 226(2): 215-219, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34116039

RESUMEN

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique.


Asunto(s)
Diagnóstico Prenatal/métodos , Ultrasonografía/métodos , Cordón Umbilical/diagnóstico por imagen , Cordocentesis/métodos , Femenino , Humanos , Embarazo , Ultrasonografía Prenatal
2.
Prenat Diagn ; 42(5): 589-600, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35373843

RESUMEN

INTRODUCTION: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. CASE REPORT: We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra-uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. REVIEW: A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.


Asunto(s)
Calcinosis , Exoftalmia , Muerte Perinatal , Anomalías Múltiples , Quinasa de la Caseína I/genética , Fisura del Paladar , Proteínas de la Matriz Extracelular/genética , Femenino , Humanos , Recién Nacido , Microcefalia , Mutación , Osteosclerosis , Embarazo
3.
Matern Child Health J ; 26(11): 2221-2227, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35972590

RESUMEN

This study aimed to assess the impact of the COVID-19 stress and anxiety on prenatal attachment during the second trimester of gestation. Pregnancy is an important stage for mothers-to-be in creating representations of themselves as a "mother", with the developing attachment relationship to the unborn child considered as a milestone in the future parent's developmental trajectory. The outbreak of the COVID-19 pandemic and the national health measures installed can hence have consequences on these representations and on prenatal attachment. Our sample consisted of 95 mothers that were recruited from a prenatal ultrasound screening center. Results suggested that the COVID-19 pandemic significantly affected prenatal attachment (PAI) with significant correlations between PAI total score and age, anxiety (DASS) and stress (IES-R). When entered in one model looking for predictors of PAI total score, age and COVID-19 stress were the only variables found to significantly predict prenatal attachment. We argue for a cultural component in explaining these results, hypothesizing that stress could trigger defensive strategies, leading to more investment in the attachment relationship, potentially playing the role of a protective factor.


Asunto(s)
COVID-19 , Madres , Embarazo , Lactante , Femenino , Humanos , COVID-19/epidemiología , Pandemias , Apego a Objetos , Ansiedad/epidemiología , Ansiedad/psicología
4.
Eur Radiol ; 31(5): 3090-3097, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33123792

RESUMEN

OBJECTIVE: Assessment of lung development and maturity is of utmost importance in prenatal counseling. Blood oxygen level-dependent (BOLD) effect MRI was developed for functional evaluations of organs. To date, no data are available in fetal lungs and nothing is known about the existence of a BOLD effect in the lungs. The aim of our study was to evaluate if a BOLD response could be detected in fetal lungs. MATERIALS AND METHODS: From January 2014 to December 2016, 38 healthy pregnant women were prospectively enrolled. After a routine scan on a 1.5-T MRI device (normoxic period), maternal hyperoxia was induced for 5 min before the BOLD sequence (hyperoxic period). R2* was evaluated by fitting average intensity of the signal, both for normoxic (norm) and hyperoxic (hyper) periods. RESULTS: A significant BOLD response was observed after maternal hyperoxia in the lungs with a mean R2* decrease of 12.1 ± 2.5% (p < 0.001), in line with the placenta response with a mean R2* decrease of 19.2 ± 5.9% (p < 0.0001), confirming appropriate oxygen uptake. Conversely, no significant BOLD effect was observed for the brain nor the liver with a mean ∆R2* of 3.6 ± 3.1% (p = 0.64) and 2.8 ± 3.7% (p = 0.23). CONCLUSION: This study shows for the first time in human that a BOLD response can be observed in the normal fetal lung despite its prenatal "non-functional status." If confirmed in congenital lung and chest malformations, this property could be used in addition to the lung volume for a better prediction of postnatal respiratory status. KEY POINTS: • Blood oxygen level-dependent (BOLD) effect MRI was developed for functional evaluations of organs and could have interesting implications for the fetal organs. • Assessment of lung development is of utmost importance in prenatal counseling, but to date no data are available in fetal lungs. • BOLD response can be observed in the normal fetal lung opening the way to studies on fetus with pathological lungs.


Asunto(s)
Hiperoxia , Oxígeno , Femenino , Feto/diagnóstico por imagen , Humanos , Hiperoxia/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Imagen por Resonancia Magnética , Embarazo
5.
BMC Pregnancy Childbirth ; 21(1): 242, 2021 03 22.
Artículo en Inglés | MEDLINE | ID: mdl-33752620

RESUMEN

Twin-twin transfusion syndrome is a highly morbid condition that can affect parental attachment and depression risk. Studies addressing this rare condition are hard to conduct and thus lacking in the literature. In this letter to the editor, we acknowledge the article of Mackie et al. entitled "Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study" to be of high importance and impact, but would like to discuss the extent of its conclusions, and push towards bigger studies in this field.


Asunto(s)
Depresión , Transfusión Feto-Fetal , Estudios de Cohortes , Femenino , Humanos , Padres , Embarazo
6.
J Ultrasound Med ; 40(3): 483-489, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32770573

RESUMEN

OBJECTIVES: Our aim was to evaluate the conditions and to weigh the potential impact of an obstetrical ultrasound screening intervention on pregnant patients in an underserved area of Lebanon with the presence of refugees. METHODS: We performed a cross-sectional study in a rural region in North Lebanon. Monthly second-trimester obstetrical ultrasound scans were offered to patients. A thorough analysis of the population's characteristics was done, the anomalies discovered were documented and follow up recommendations were offered. RESULTS: 268 screening ultrasounds were performed over a one-year period. The patients' mean age was 27.5 ± 8.5 years with a 35% consanguinity rate. A positive personal history of abnormalities was recognized in 34% of cases, and a positive family history in 21% of them. The average gestational age was of 23.3 ± 1.4 weeks of gestation. We found a rate of 8.6% inaccurate dating, 20% growth abnormalities, and 12% morphological abnormalities requiring follow-up. These latter included defects affecting multiple organ systems among which renal, neurological, and cardiac structures were the most frequently affected (2.5%, 2%, and 1.6% respectively). Overall, 35.8% of the screened cases required a follow-up for 1 or more abnormal findings. CONCLUSIONS: The findings confirmed the necessity to introduce a prenatal ultrasound screening program in rural areas of Lebanon where refugees are settled. The lack of adequate ultrasound screening in these regions presents major threats that can hinder any pregnancy. Our simple intervention tackles the burden of diagnosis of these risks in up to 35.8% of pregnancies and thus can help improve outcomes.


Asunto(s)
Diagnóstico Prenatal , Ultrasonografía Prenatal , Adulto , Estudios Transversales , Femenino , Edad Gestacional , Humanos , Lactante , Líbano/epidemiología , Embarazo , Adulto Joven
7.
Prenat Diagn ; 40(11): 1375-1382, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32394424

RESUMEN

OBJECTIVE: To review the perinatal management and outcomes of monochorionic twin pregnancies (MC) discordant for congenital anomalies (DCA). METHODS: Retrospective, study of all MC DCA cases referred to our tertiary referral center from 1997 to 2018. We excluded cases complicated with twin-to-twin transfusion syndrome, twin anemia-polycythemia sequence, twin reversed arterial perfusion sequence or selective intra-uterine growth restriction. Patients were counseled about the possibility of expectant (EM) or interventional management (selective feticide [SF] or termination of the entire pregnancy [TOP]). RESULTS: One hundred eight of 4157 (2.6%) MC pregnancies were discordant for anomaly. Fifty two of 108 n(48.1%) underwent SF at a mean gestational age of 31.4 ± 5.9 weeks while 52/108(48.1%) opted for EM. Livebirth rate of the healthy co-twin was similar between the two groups (SF: 88.5% vs EM: 82.7%, P = .87). In the SF group, six healthy co-twins (6/52, 11.5%) died 5.3 ± 3.1 days after SF of the abnormal co-twin. In the EM group, in-utero demise of the abnormal twin occurred in 9 of 52 (17.3%) of the cases and was followed by the spontaneous demise of the healthy co-twin in 4 of 9 (44.4%) of these cases. CONCLUSION: Selective feticide does not seem to significantly alter survival of the healthy co-twin compared to EM.


Asunto(s)
Anomalías Congénitas , Reducción de Embarazo Multifetal/estadística & datos numéricos , Gemelos Monocigóticos , Adolescente , Adulto , Anomalías Congénitas/epidemiología , Femenino , Francia/epidemiología , Humanos , Nacimiento Vivo/epidemiología , Embarazo , Reducción de Embarazo Multifetal/efectos adversos , Estudios Retrospectivos , Espera Vigilante/estadística & datos numéricos , Adulto Joven
8.
Prenat Diagn ; 40(1): 100-109, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31736096

RESUMEN

Fetal anomalies are detected in approximately 2% of all fetuses and, among these, genitourinary tract abnormalities account for 30% to 50% of all structural anomalies present at birth. Although ultrasound remains the first line diagnostic modality, fetal MRI provides important additional structural and functional information, especially with the development of faster sequences and the use of functional sequences. The added value of MRI-based imaging is three-fold: (a) improvement of diagnostic accuracy by adequate morphological examination, (b) detection of additional anomalies, and (c) in addition, MRI has the potential to provide information regarding renal function. In this review, we describe the role of fetal MRI in the anatomical evaluation of renal and urogenital tract anomalies, and we also touch upon the contribution of functional MRI to the diagnostic workup of these conditions.


Asunto(s)
Feto/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Anomalías Urogenitales/diagnóstico por imagen , Cistoscopía , Imagen de Difusión por Resonancia Magnética , Femenino , Humanos , Imagenología Tridimensional , Embarazo , Diagnóstico Prenatal , Interfaz Usuario-Computador
9.
J Med Genet ; 55(2): 131-136, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28754700

RESUMEN

BACKGROUND: Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (CVS). Such procedures are hampered by the lack of data regarding mtDNA segregation in the placenta.The objectives of this report were to determine whether mutant loads (1) are homogeneously distributed across the whole placentas, (2) correlate with those in amniocytes and cord blood cells and (3) correlate with the mtDNA copy number. METHODS: We collected 11 whole placentas carrying various mtDNA mutations (m.3243A>G, m.8344A>G, m.8993T>G, m.9185T>C and m.10197G>A) and, when possible, corresponding amniotic fluid samples (AFSs) and cord blood samples. We measured mutant loads in multiple samples from each placenta (n= 6-37), amniocytes and cord blood cells, as well as total mtDNA content in placenta samples. RESULTS: Load distribution was homogeneous at the sample level when average mutant load was low (<20%) or high (>80%) at the whole placenta level. By contrast, a marked heterogeneity was observed (up to 43%) in the intermediate range (20%-80%), the closer it was to 40%-50% the mutant load, the wider the distribution. Mutant loads were found to be similar in amniocytes and cord blood cells, at variance with placenta samples. mtDNA content correlated to mutant load in m.3243A>G placentas only. CONCLUSION: These data indicate that (1) mutant load determined from CVS has to be interpreted with caution for PND of some mtDNA disorders and should be associated with/substituted by a mutant load measurement on amniocytes; (2) the m.3243A>G mutation behaves differently from other mtDNA mutations with respect to the impact on mtDNA copy number, as previously shown in human preimplantation embryogenesis.


Asunto(s)
Enfermedades Mitocondriales/genética , Mutación , Placenta/fisiología , Diagnóstico Prenatal/métodos , Líquido Amniótico , Muestra de la Vellosidad Coriónica , Cordocentesis , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Embarazo
10.
Ultraschall Med ; 40(3): 366-373, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30360009

RESUMEN

PURPOSE: The purpose of this study was two-fold: (1) To determine how the number of ultrasound scans a trainee has completed predicts the trainee's diagnostic accuracy when performing transvaginal ultrasound examinations, and (2) to examine the utility of simulation-based assessment of ultrasound competence for determining readiness for independently performing examinations. MATERIALS AND METHODS: 101 OB/GYN trainees were surveyed regarding their clinical experience and the number of scans they had completed. All participants completed five different cases on a transvaginal virtual-reality ultrasound simulator (Scantrainer, Medaphor). The participants' diagnostic accuracy was recorded and expert raters evaluated their performance using the Objective Structured Assessment of Ultrasound Skills (OSAUS) scale. The utility of simulation-based assessments was assessed with respect to reliability, validity, acceptability, and costs. The main outcome was diagnostic accuracy for five different ultrasound cases. RESULTS: Although the number of scans was associated with diagnostic accuracy (p = 0.006), it was a poor predictor (AUC 0.69) of diagnostic accuracy. Only 56.6 % (n = 34) of participants who had more than 100 transvaginal scans demonstrated a diagnostic accuracy of 0.80 or above. The reliability of the OSAUS assessments was high (ICC 0.82) and the majority of participants supported the use of simulation-based assessments for future licensing exams (70.3 %). The running costs of simulation-based assessments (154 EUR per participant) were lower than for practical examinations using real patients. CONCLUSION: The number of completed ultrasound scans was a poor predictor of the trainees' diagnostic accuracy. Instead, simulation-based assessments can be used to ensure that trainees are ready for independently performing future scans.


Asunto(s)
Competencia Clínica , Ultrasonografía , Vagina , Femenino , Humanos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Ultrasonografía/métodos , Vagina/diagnóstico por imagen
11.
Fetal Diagn Ther ; 46(4): 246-256, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30726851

RESUMEN

The aim of this study was to review the perioperative complication rates and neonatal outcomes after fetoscopic release of amniotic bands that caused bilateral limb constrictions. We present 5 cases of limb constriction by amniotic bands occurring spontaneously or following fetoscopic surgery and also include a review of 21 previously published cases. The cases were analyzed for indication, surgical technique, and postoperative follow-up. In our population and the literature, the majority of the children acquired a functional limb (75%), with few perioperative complications (15%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (38.4%) and preterm birth (34.7 GW). The mortality rate was low (7.7%). This review only describes amniotic bands causing limb constriction, and illustrates that fetoscopic surgery for their release is technically feasible with an acceptable perioperative complication rate. However, the 75% success rate is very likely to be an overestimation of the true success rate. In view of these observations we cannot recommend treatment for cases where the fetus has been extensively affected by the bands. We believe, however, that we could consider this technique for a fraction of amniotic band syndrome cases isolated to the limb constrictions. This kind of surgery should be proposed as a potential treatment for amniotic band syndrome.


Asunto(s)
Síndrome de Bandas Amnióticas/cirugía , Fetoscopía/estadística & datos numéricos , Adulto , Femenino , Fetoscopía/efectos adversos , Humanos , Deformidades Congénitas de las Extremidades/prevención & control , Embarazo , Resultado del Tratamiento
12.
Prenat Diagn ; 38(4): 293-297, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29417606

RESUMEN

OBJECTIVES: The objective of our study was to determine the impact of laser therapy for twin-to-twin transfusion syndrome (TTTs) on subsequent pregnancies. METHODS: This was a monocentric retrospective observational study. Women treated by laser fetoscopy for TTTs were asked to answer a postal questionnaire about subsequent pregnancies. The primary outcome was fecundity (number of pregnancies and time to pregnancy). We also assessed pregnancy complications, birth weight, and gestational age at delivery. Pregnancy complications included the following: threatened preterm labor, preeclampsia, placenta accreta, postpartum hemorrhage, and psychological disorders. Our study population was compared with an external control group made up of mothers of monochorionic twins without TTTs. RESULTS: We included 122 cases managed at the Necker Hospital between 2008 and 2012 and 39 controls. The median conception time was longer in the TTTs group (6.4 ± 11.1 versus 2 ± 1.6 months, P = .03). The numbers of live childbirths at the end of those pregnancies were equivalent (77.6% versus 66.7%, P = .56). Birth weight (3317 ± 726 versus 3240 ± 382 g, P = .81) and gestational age at delivery (38.2 ± 6.8 WG versus 39.5 ± 1.2 WG, P = .64) were similar, with no increase of obstetrical complications compared with the control group. DISCUSSION: Twin-to-twin transfusion syndrome and its treatment do not seem to impact subsequent pregnancies.


Asunto(s)
Transfusión Feto-Fetal/cirugía , Complicaciones Posoperatorias/epidemiología , Adulto , Femenino , Fetoscopía , Francia/epidemiología , Humanos , Coagulación con Láser , Embarazo , Estudios Retrospectivos
13.
Prenat Diagn ; 37(10): 968-974, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28656648

RESUMEN

We reviewed data from a cohort of fetuses with ureterocele diagnosed and operated prenatally in four fetal therapy centers. Inclusion criteria were (1) ureterocele confirmed on detailed fetal ultrasound examination, (2) absence of additional fetal malformations, and (3) fetal intervention to decompress the ureterocele with local institutional review boards' approval. Data on sonographic follow-up, obstetrical, neonatal outcome, and postnatal evaluation were collected. Ten cases of prenatally treated ureterocele are described. Six cases benefited from a fetoscopy for laser incision and decompression, two cases had an ultrasound guided puncture before resorting to a fetoscopy with laser incision, one case had a balloon catheterization under ultrasound guidance, and one case had an ultrasound-guided opening of the ureterocele with a laser fiber passed through a 20-gauge needle. Mean gestational age at diagnosis was 21.6 GW. Two cases underwent termination of pregnancy. The remaining eight cases recovered normal amniotic fluid volume and delivered a liveborn child at a mean gestational age of 38.6 GW with normal creatinine levels during the first week of life. Prenatal incision provided complete treatment of severely obstructive ureteroceles in 80% of the cases and allowed improvement of urinary electrolytes, renal size and echogenicity, bladder filling in all survivors, and recollection of normal amniotic fluid volume, in case of oligoanhydramnios. © 2017 John Wiley & Sons, Ltd.


Asunto(s)
Enfermedades Fetales/cirugía , Terapia por Láser/métodos , Ureterocele/complicaciones , Ureterocele/embriología , Obstrucción del Cuello de la Vejiga Urinaria/embriología , Obstrucción del Cuello de la Vejiga Urinaria/etiología , Líquido Amniótico , Femenino , Enfermedades Fetales/diagnóstico por imagen , Fetoscopía , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Resultado del Tratamiento , Ultrasonografía Prenatal , Ureterocele/cirugía , Obstrucción del Cuello de la Vejiga Urinaria/cirugía
14.
Am J Obstet Gynecol ; 214(4): 525.e1-525.e8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26546849

RESUMEN

BACKGROUND: Evaluation of trainee's ability in obstetrical ultrasound is a time-consuming process, which requires involving patients as volunteers. With the use of obstetrical ultrasound simulators, virtual reality could help in assessing competency and evaluating trainees in this field. OBJECTIVE: The objective of the study was to test the validity of an obstetrical ultrasound simulator as a tool for evaluating trainees following structured training by comparing scores obtained on obstetrical ultrasound simulator with those obtained on volunteers and by assessing correlations between scores of images and of dexterity given by 2 blinded examiners. STUDY DESIGN: Trainees, taking the 2013 French national examination for the practice of obstetrical ultrasound were asked to obtain standardized ultrasound planes both on volunteer pregnant women and on an obstetrical ultrasound simulator. These planes included measurements of biparietal diameter, abdominal circumference, and femur length as well as reference planes for cardiac 4-chamber and outflow tracts, kidneys, stomach/diaphragm, spine, and face. Images were stored and evaluated subsequently by 2 national examiners who scored each picture according to previously established quality criteria. Dexterity was also evaluated and subjectively scored between 0 and 10. The Raghunathan's modification of Pearson, Filon's z, Spearman's rank correlation, and analysis of variance tests were used to assess correlations between the scores by the 2 examiners and scores of dexterity and also to compare the final scores between the 2 different methods. RESULTS: We evaluated 29 trainees. The mean dexterity scores in simulation (6.5 ± 2.0) and real examination (5.9 ± 2.3) were comparable (P = .31). Scores with an obstetrical ultrasound simulator were significantly higher than those obtained on volunteers (P = .027). Nevertheless, there was a good correlation between the scores of the 2 examiners judging on simulation (R = 0.888) and on volunteers (R = 0.873) (P = .81). CONCLUSION: An obstetrical ultrasound simulator is as good a method as volunteer-based examination for evaluating practical skills in trainees following structured training in obstetrical ultrasound. The threshold for success/failure should, however, be adapted as candidates obtain higher scores on the simulator. Advantages of the obstetrical ultrasound simulator include the absence of location and time constraints without the need to involve volunteers or to interfere with the running of ultrasound clinics. However, an obstetrical ultrasound simulator still lacks the ability to evaluate the trainees' ability to interact with patients.


Asunto(s)
Competencia Clínica , Maniquíes , Ultrasonografía Prenatal/métodos , Adulto , Femenino , Francia , Humanos , Masculino , Partería/educación , Destreza Motora , Obstetricia/educación , Embarazo
15.
Pediatr Nephrol ; 31(10): 1705-8, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27286685

RESUMEN

BACKGROUND: HNF1B mutation is the leading cause of isolated hyperechogenic fetal kidneys with normal or moderately large size. Although most cases have normal amniotic fluid volume, some cases present with early oligohydramnios and renal failure associated with high perinatal mortality. CASE DIAGNOSIS/TREATMENT: Here we report on seven fetuses from six unrelated families, carrying an HNF1B mutation, and presenting with polyhydramnios during the second or third trimester of pregnancy. Polyhydramnios was transitory in two cases. None of the mothers was presenting gestational diabetes. Bilateral hyperechogenic kidneys with size between -2.5 and +2 SD was the most common renal phenotype at prenatal US. Two patients were born prematurely at 28 and 32 weeks of gestation, respectively. Both presented high urine output the first days of life with urinary salt and potassium loss requiring hydro-electrolytic compensation. All mutations were large deletions removing the whole HNF1B gene. CONCLUSIONS: In the absence of maternal diabetes, HNF1B mutation can be associated with polyhydramnios, probably due to fetal polyuria. Thus, HNF1B mutation represents a differential diagnosis of polyhydramnios associated with hyperechogenic (and sometimes enlarged) kidneys.


Asunto(s)
Factor Nuclear 1-beta del Hepatocito/genética , Riñón/diagnóstico por imagen , Polihidramnios/diagnóstico por imagen , Polihidramnios/genética , Adulto , Femenino , Feto , Eliminación de Gen , Humanos , Recién Nacido , Recien Nacido Prematuro , Mutación , Fenotipo , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Ultrasonografía Prenatal , Urodinámica , Microglobulina beta-2/sangre
16.
Twin Res Hum Genet ; 19(3): 268-75, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-27075108

RESUMEN

Fetoscopic surgery is widely accepted as the preferred first-line treatment for twin-twin transfusion syndrome (TTTS). Nonetheless, the broad diffusion of this technique relies on a single multicentric-randomized trial. We hereby question this trial in a post-hoc Bayesian analysis, submitting its results to several scenarios comprising the alternative published non-randomized literature and pessimistic opinions regarding this surgery. Furthermore, we also discuss further refinements in indications, questioning potential alternatives in early stages of the disease.


Asunto(s)
Transfusión Feto-Fetal/fisiopatología , Fetoscopía , Embarazo Gemelar , Teorema de Bayes , Femenino , Transfusión Feto-Fetal/cirugía , Humanos , Coagulación con Láser , Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto
17.
Am J Obstet Gynecol ; 213(4 Suppl): S103-14, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26428488

RESUMEN

Abnormal placentation is responsible for most failures in pregnancy; however, an understanding of placental functions remains largely concealed from noninvasive, in vivo investigations. Magnetic resonance imaging (MRI) is safe in pregnancy for magnetic fields of up to 3 Tesla and is being used increasingly to improve the accuracy of prenatal imaging. Functional MRI (fMRI) of the placenta has not yet been validated in a clinical setting, and most data are derived from animal studies. FMRI could be used to further explore placental functions that are related to vascularization, oxygenation, and metabolism in human pregnancies by the use of various enhancement processes. Dynamic contrast-enhanced MRI is best able to quantify placental perfusion, permeability, and blood volume fractions. However, the transplacental passage of Gadolinium-based contrast agents represents a significant safety concern for this procedure in humans. There are alternative contrast agents that may be safer in pregnancy or that do not cross the placenta. Arterial spin labeling MRI relies on magnetically labeled water to quantify the blood flows within the placenta. A disadvantage of this technique is a poorer signal-to-noise ratio. Based on arterial spin labeling, placental perfusion in normal pregnancy is 176 ± 91 mL × min(-1) × 100 g(-1) and decreases in cases with intrauterine growth restriction. Blood oxygen level-dependent and oxygen-enhanced MRIs do not assess perfusion but measure the response of the placenta to changes in oxygen levels with the use of hemoglobin as an endogenous contrast agent. Diffusion-weighted imaging and intravoxel incoherent motion MRI do not require exogenous contrast agents, instead they use the movement of water molecules within tissues. The apparent diffusion coefficient and perfusion fraction are significantly lower in placentas of growth-restricted fetuses when compared with normal pregnancies. Magnetic resonance spectroscopy has the ability to extract information regarding metabolites from the placenta noninvasively and in vivo. There are marked differences in all 3 metabolites N-acetyl aspartate/choline levels, inositol/choline ratio between small, and adequately grown fetuses. Current research is focused on the ability of each fMRI technique to make a timely diagnosis of abnormal placentation that would allow for appropriate planning of follow-up examinations and optimal scheduling of delivery. These research programs will benefit from the use of well-defined sequences, standardized imaging protocols, and robust computational methods.


Asunto(s)
Retardo del Crecimiento Fetal/fisiopatología , Imagen por Resonancia Magnética/métodos , Enfermedades Placentarias/diagnóstico , Placenta/fisiología , Animales , Medios de Contraste/efectos adversos , Femenino , Humanos , Espectroscopía de Resonancia Magnética , Oxígeno/farmacología , Placenta/efectos de los fármacos , Placentación , Embarazo , Relación Señal-Ruido
18.
J Ultrasound Med ; 34(9): 1663-7, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26283753

RESUMEN

OBJECTIVES: To compare the impact of virtual reality simulation training and theoretical teaching on the ability of inexperienced trainees to produce adequate virtual transvaginal ultrasound images. METHODS: We conducted a randomized controlled trial with parallel groups. Participants included inexperienced residents starting a training program in Paris. The intervention consisted of 40 minutes of virtual reality simulation training using a haptic transvaginal simulator versus 40 minutes of conventional teaching including a conference with slides and videos and answers to the students' questions. The outcome was a 19-point image quality score calculated from a set of 4 images (sagittal and coronal views of the uterus and left and right ovaries) produced by trainees immediately after the intervention, using the same simulator on which a new virtual patient had been uploaded. Experts assessed the outcome on stored images, presented in a random order, 2 months after the trial was completed. They were blinded to group assignment. The hypothesis was an improved outcome in the intervention group. Randomization was 1 to 1. RESULTS: The mean score was significantly greater in the simulation group (n = 16; mean score, 12; SEM, 0.8) than the control group (n = 18; mean score, 9; SEM, 1.0; P= .0302). CONCLUSIONS: The quality of virtual vaginal images produced by inexperienced trainees was greater immediately after a single virtual reality simulation training session than after a single theoretical teaching session.


Asunto(s)
Instrucción por Computador/estadística & datos numéricos , Ginecología/educación , Internado y Residencia/estadística & datos numéricos , Entrenamiento Simulado/estadística & datos numéricos , Ultrasonografía , Interfaz Usuario-Computador , Competencia Clínica , Instrucción por Computador/métodos , Curriculum , Evaluación Educacional , Femenino , Francia , Humanos , Masculino , Variaciones Dependientes del Observador , Radiología/educación , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Entrenamiento Simulado/métodos , Adulto Joven
19.
Radiology ; 269(1): 122-9, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23696681

RESUMEN

PURPOSE: To investigate blood oxygen level-dependent (BOLD) magnetic resonance (MR) imaging in an intrauterine growth restriction (IUGR) rat model as a noninvasive in vivo tool to evaluate the response of the fetoplacental units (FPUs) to oxygenation MATERIALS AND METHODS: All procedures were approved by the animal care committee. The study was performed between February and July 2010. The IUGR model based on the ligation of the left uterine vascular pedicle at embryonic day 17 of gestation was validated by weighing placentas and fetuses after MR imaging. FPUs in the left and right uterine horns were IUGR cases and controls, respectively. A small-animal 4.7-T MR imager was used. Multiple gradient-echo sequence (repetition time msec/echo time msec, 800/1.8-49.8) was performed at embryonic day 19. T2* relaxation time was measured before and after maternal hyperoxygenation for live FPUs in placenta, fetal liver, and brain. The effect of hyperoxygenation on BOLD MR imaging was analyzed with change in T2* between hyperoxygenation and ambient air. After dissection, live fetuses from both horns were identified and weighed. Changes in T2* were compared based on Student t tests. A mixed model was used to compare BOLD effect among horns and organs. RESULTS: Sixteen rats were studied. There was a significant fetal weight decrease in the IUGR FPUs (-21.9%; P < .001). Change in T2* differed significantly between IUGR cases and controls for placenta (5.25 msec vs 11.25 msec; P < .001) and fetal brain (3.7 msec vs 7.17 msec; P = .02), whereas there was no significant difference in the fetal liver (2.72 msec vs 3.18 msec; P = .47). CONCLUSION: BOLD MR imaging at 4.7 T can be used to evaluate the response to oxygenation in normal and IUGR FPUs. This technique has a potential role in the assessment of human pregnancy.


Asunto(s)
Retardo del Crecimiento Fetal/sangre , Retardo del Crecimiento Fetal/diagnóstico , Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Magnética/métodos , Oximetría/métodos , Oxígeno/sangre , Circulación Placentaria , Animales , Femenino , Humanos , Embarazo , Ratas , Ratas Sprague-Dawley , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
20.
J Ultrasound Med ; 32(9): 1601-5, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23980221

RESUMEN

OBJECTIVES: The purpose of this work was to study the impact of an audit and feedback on the quality of routine first-trimester nuchal transparency ultrasound images. METHODS: Eighty-eight sonographers were each sent 2 different series of 30 consecutive nuchal translucency images at a mean interval of 3 months to a dedicated, protected server for remote double-blind independent analysis based on the new Collège Français d'Echographie Foetale/Centre National de la Recherche Scientifique image-scoring method (https://www.cfef.org/evaluation/ISMCFEFCNRS.pdf). The sonographers were classified as low (score below the median) or high (score above the median) scorers for each series. Before their second evaluation, 73 of the 88 sonographers received a feedback report on their first series of images, whereas the other 15 participants received no feedback. The baseline characteristics of the participants who did and did not receive feedback were comparable. RESULTS: Participants who received feedback increased their average score significantly, from a mean ± SD of 11.1 ± 1.3 to 13.4 ± 1.4 among low scorers (P < .00001) and from 15.1 ± 1.2 to 16.0 ± 1.4 among high scorers (P < .001), whereas no significant change was seen among participants who received no feedback (low scorers, 10.9 ± 1.5 to 12.1 ± 2.0; P = .11; high scorers, 14.7 ± 1.3 to 14.6 ± 1.3; P = .99). The proportion of satisfactory images increased by 48% among low scorers who received feedback. CONCLUSIONS: Formative assessment based on a moderately intensive audit and feedback is feasible and effective for improving the quality of routine first-trimester nuchal transparency ultrasound images.


Asunto(s)
Educación Médica Continua/métodos , Evaluación del Rendimiento de Empleados/métodos , Evaluación del Rendimiento de Empleados/estadística & datos numéricos , Auditoría Médica/métodos , Medida de Translucencia Nucal/métodos , Competencia Profesional/estadística & datos numéricos , Método Doble Ciego , Educación Médica Continua/estadística & datos numéricos , Retroalimentación , Femenino , Francia , Humanos , Internet , Masculino , Auditoría Médica/estadística & datos numéricos , Cuello/diagnóstico por imagen , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
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