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1.
Fetal Diagn Ther ; 51(2): 112-124, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37926071

RESUMEN

INTRODUCTION: Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22. CASE PRESENTATION: We examine and describe a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations and discuss their interrelationships along with case management and outcomes. We aimed to identify aspects of prenatal data suggestive of fetal trisomy 22 and to determine whether a prognosis can be established from these factors. CONCLUSION: Our conclusion is that prenatal data elements can provide key elements of information to guide multidisciplinary care and support for the couple and the neonate.


Asunto(s)
Amniocentesis , Placenta , Recién Nacido , Embarazo , Femenino , Humanos , Segundo Trimestre del Embarazo , Mosaicismo , Trisomía/diagnóstico , Trisomía/genética , Análisis Citogenético , Hibridación Genómica Comparativa , Cromosomas Humanos Par 22
2.
Kidney Int ; 99(3): 737-749, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32750455

RESUMEN

Although a rare disease, bilateral congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage kidney disease in children. Ultrasound-based prenatal prediction of postnatal kidney survival in CAKUT pregnancies is far from accurate. To improve prediction, we conducted a prospective multicenter peptidome analysis of amniotic fluid spanning 140 evaluable fetuses with CAKUT. We identified a signature of 98 endogenous amniotic fluid peptides, mainly composed of fragments from extracellular matrix proteins and from the actin binding protein thymosin-ß4. The peptide signature predicted postnatal kidney outcome with an area under the curve of 0.96 in the holdout validation set of patients with CAKUT with definite endpoint data. Additionally, this peptide signature was validated in a geographically independent sub-cohort of 12 patients (area under the curve 1.00) and displayed high specificity in non-CAKUT pregnancies (82 and 94% in 22 healthy fetuses and in 47 fetuses with congenital cytomegalovirus infection respectively). Change in amniotic fluid thymosin-ß4 abundance was confirmed with ELISA. Knockout of thymosin-ß4 in zebrafish altered proximal and distal tubule pronephros growth suggesting a possible role of thymosin ß4 in fetal kidney development. Thus, recognition of the 98-peptide signature in amniotic fluid during diagnostic workup of prenatally detected fetuses with CAKUT can provide a long-sought evidence base for accurate management of the CAKUT disorder that is currently unavailable.


Asunto(s)
Enfermedades Renales , Sistema Urinario , Anomalías Urogenitales , Líquido Amniótico , Animales , Niño , Femenino , Humanos , Riñón/diagnóstico por imagen , Péptidos , Embarazo , Estudios Prospectivos , Anomalías Urogenitales/diagnóstico por imagen , Pez Cebra
3.
J Ultrasound Med ; 40(5): 1039-1048, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-32951245

RESUMEN

Amniotic band syndrome is a rare condition. There have been few cases reported of fetoscopic band dissection. The aim of this case series is to report 3 cases of fetoscopic treatment for amniotic band syndrome, including indication for surgery, technical aspects, complications and outcomes. Fetoscopic treatment was performed respectively at 23 5/7 , 26 5/7 and 18 3/7 weeks' gestation. Two procedures were performed with a laser fiber through a single trocar whereas one surgery was performed with scissors. In conclusion, fetoscopic release of the amniotic bands in case of amniotic band syndrome is feasible with encouraging results in order to prevent amputation and dysfunction of the extremities.


Asunto(s)
Síndrome de Bandas Amnióticas , Transfusión Feto-Fetal , Terapia por Láser , Síndrome de Bandas Amnióticas/diagnóstico por imagen , Síndrome de Bandas Amnióticas/cirugía , Femenino , Transfusión Feto-Fetal/cirugía , Fetoscopía , Edad Gestacional , Humanos , Recién Nacido , Embarazo
4.
Fetal Diagn Ther ; 48(4): 265-271, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33756463

RESUMEN

OBJECTIVE: The objective of our study was to assess the utility of sequential fetal urine analysis in severe lower urinary tract obstruction (LUTO) when selecting cases suitable for vesicoamniotic shunting. MATERIAL AND METHODS: This was a retrospective cohort study of cases of severe LUTO treated in our fetal medicine center from 1994 to 2013. Two fetal bladder samples were taken 24-48 h apart to assess renal function. A vesicoamniotic shunt was inserted in case of improvement in urinary biochemistry between the 2 samples. We assessed perinatal morbidity and mortality and renal function at 5 years. RESULTS: Among a total of 26 LUTO cases with sequential urine analysis, 5 showed normal urinary biochemistry, 13 were abnormal, and 8 improved between the 2 samples. These 8 cases underwent vesicoamniotic shunt placement, leading to the birth of 6/8 (75%) live infants, 5/6 (83%) of whom had normal renal function at 5 years. The 5 cases with normal biochemistry occasioned 2 neonatal deaths and 3 children with normal renal function at 5 years. Elective termination of pregnancy was requested by parents for the fetuses exhibiting abnormal biochemistry. CONCLUSION: An improvement in urinary biochemistry between 2 sequential fetal bladder punctures in severe LUTO could be an effective criterion in the selection of candidates for vesicoamniotic shunting. However, the benefit of a shunt in fetuses with normal amniotic fluid remains to be evaluated in clinical trials.


Asunto(s)
Enfermedades Fetales , Obstrucción Uretral , Líquido Amniótico , Niño , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/cirugía , Humanos , Lactante , Recién Nacido , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Obstrucción Uretral/diagnóstico por imagen , Obstrucción Uretral/cirugía
5.
Am J Med Genet A ; 182(5): 1236-1242, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32052936

RESUMEN

Cerebro-oculo-facio-skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe the detailed morphological and microscopic phenotype of three fetuses from two families harboring ERCC5/XPG likely pathogenic variants, and review the five previously reported fetal cases. In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. Microencephaly is present in the three fetuses with delayed development of the gyri, but normal microscopic anatomy at the supratentorial level. Microscopic anomalies reminiscent of pontocerebellar hypoplasia are present at the infratentorial level. In conclusion, COFS syndrome should be considered in fetuses when intrauterine growth retardation is associated with microcephaly, arthrogryposis and ocular anomalies. Further studies are needed to better understand XPG functions during human development.


Asunto(s)
Síndrome de Cockayne/genética , Proteínas de Unión al ADN/genética , Endonucleasas/genética , Enfermedades Neurodegenerativas/genética , Proteínas Nucleares/genética , Diagnóstico Prenatal , Factores de Transcripción/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Catarata/diagnóstico , Catarata/patología , Síndrome de Cockayne/diagnóstico , Síndrome de Cockayne/epidemiología , Síndrome de Cockayne/patología , Femenino , Feto/patología , Humanos , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Microcefalia/patología , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/epidemiología , Enfermedades Neurodegenerativas/patología , Embarazo
6.
Prenat Diagn ; 40(8): 949-957, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32279384

RESUMEN

OBJECTIVES: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival. METHODS: This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care. We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes. RESULTS: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% for left CDH (P < .01). Multivariate analysis showed two factors significantly associated with mortality: thoracic herniation of liver (OR 2.27; IC 95% [1.07-4.76]; P = .03) and lung-to-head-ratio over under expected (OR 2.99; IC 95% [1.41-6.36]; P < .01). Side of CDH was not significantly associated with mortality (OR 1.87; IC 95% [0.61-5.51], P = .26). CONCLUSION: Rate of right CDH mortality is more important than left CDH. Nevertheless after adjusting for lung-to-head-ratio and thoracic herniation of liver, right CDH does not have a higher risk of mortality than left CDH.


Asunto(s)
Hernias Diafragmáticas Congénitas/diagnóstico , Hernias Diafragmáticas Congénitas/patología , Pulmón/patología , Adulto , Estudios de Cohortes , Femenino , Francia/epidemiología , Hernias Diafragmáticas Congénitas/mortalidad , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Pulmón/diagnóstico por imagen , Masculino , Embarazo , Diagnóstico Prenatal , Pronóstico , Reproducibilidad de los Resultados , Estudios Retrospectivos
7.
Prenat Diagn ; 39(5): 403-408, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30861154

RESUMEN

OBJECTIVE: We developed a new balloon called "Smart-TO," which allows noninvasive and easy unplugging, thanks to a magnetic valve actuated by the magnetic fringe field of a magnetic resonance imaging (MRI) scanner. The objective of this feasibility study was to evaluate the operation of this new balloon in a nonhuman primate model. METHODS: Four pregnant rhesus monkeys underwent fetal endoscopic tracheal occlusion using the "Smart-TO" balloon. The pregnant monkeys were simply carried around the perimeter of an MRI scanner a few days later. Study outcomes were feasibility of fetal tracheal occlusion using the "Smart-TO" balloon, persistence of the balloon in the fetal trachea, and deflation of the balloon when subjected to the magnetic fringe field of an MRI. RESULTS: At the time of the unplug procedure, in all cases, the balloon was still in a correct position, and its shape did not change based on their ultrasound appearance. After bringing the pregnant monkeys into the fringe field of the MRI scanner, the balloon deflated in all cases. CONCLUSION: The balloon we developed allows noninvasive, easily triggered, and externally controlled reversal occlusion, based on the nonhuman primate model. Further tests evaluating occlusiveness and potential adverse effects are necessary.


Asunto(s)
Oclusión con Balón/instrumentación , Enfermedades Fetales/terapia , Fetoscopía/instrumentación , Hernias Diafragmáticas Congénitas/terapia , Animales , Femenino , Macaca mulatta , Embarazo
8.
Genet Med ; 20(11): 1346-1353, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29493578

RESUMEN

PURPOSE: Cell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP). METHODS: A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n = 472) or pregnancy obtained after ART (n = 322). RESULTS: Overall, the false-positive rate and positive predictive value were 6.6% and 8.8% for MSS but 0% and 100% for cfDNA. MSS false-positive rate and positive predictive values were clearly poorer in the ART group (11.7% and 2.6%) than in the SP group (3.2% and 21.1%). The global rates of invasive procedures were 1.9% (15/794) with cfDNA but 8.4% (65/794) if MSS alone was proposed. CONCLUSION: cfDNA achieved better performance than MSS in both spontaneous and ART pregnancies, thus decreasing the number of invasive procedures. Our findings suggest that cfDNA should be considered for primary screening, especially in pregnancies obtained after ART.


Asunto(s)
Ácidos Nucleicos Libres de Células/sangre , Síndrome de Down/sangre , Pruebas Genéticas , Diagnóstico Prenatal/métodos , Adulto , Ácidos Nucleicos Libres de Células/genética , Síndrome de Down/genética , Síndrome de Down/patología , Femenino , Feto , Humanos , Edad Materna , Embarazo , Primer Trimestre del Embarazo , Técnicas Reproductivas Asistidas
9.
Prenat Diagn ; 38(12): 964-970, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30207389

RESUMEN

OBJECTIVE: Because the literature on the predictive value of fetal urinalysis is controversial in fetuses with lower urinary tract obstruction, we determined the best model of fetal urine biochemical markers correlated with long-term postnatal renal function based on glomerular filtration rate (GFR). METHOD: This retrospective study concerned 89 fetuses with lower urinary tract obstruction and their renal function after 10 years of age. We correlated fetal urine biochemical markers (total protein, ß2-microglobulin, sodium, chloride, glucose, calcium, and phosphorus) with GFR at 10 to 30 years of age in 89 patients with posterior urethral valves. We defined five stages of chronic kidney disease (CKD). RESULTS: Of the 89 patients, 18 (20%) are 20 years old or over. Postnatal renal function was good in 67.4% (GFR > 60 mL/min/1.73 m2 ) and poor in 17% (GFR < 30 mL/min/1.73 m2 ). All fetal urine markers differed between CKD stage 1 + 2 and CKD stage 4 + 5 (P < 0.001). ß2-microblobulin showed an 87% sensitivity for a 72% specificity. A combination of ß2-microglobulin and chloride gave the best results (93% sensitivity and 71% specificity) versus amniotic fluid volume (80% sensitivity and 73% specificity). CONCLUSION: Fetal urine biochemistry predicts long-term (10-30 years) postnatal renal function.


Asunto(s)
Enfermedades Fetales/orina , Insuficiencia Renal Crónica/fisiopatología , Insuficiencia Renal Crónica/orina , Obstrucción Uretral/orina , Microglobulina beta-2/orina , Biomarcadores/orina , Niño , Cloruros/orina , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/etiología , Tasa de Filtración Glomerular , Humanos , Masculino , Oligohidramnios/diagnóstico por imagen , Oligohidramnios/etiología , Valor Predictivo de las Pruebas , Embarazo , Pronóstico , Insuficiencia Renal Crónica/congénito , Insuficiencia Renal Crónica/etiología , Estudios Retrospectivos , Obstrucción Uretral/congénito , Obstrucción Uretral/diagnóstico por imagen , Obstrucción Uretral/etiología , Urinálisis
10.
Prenat Diagn ; 2018 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-29644715

RESUMEN

OBJECTIVES: To compare the prognostic value of fetal serum biochemistry and fetal urine biochemistry in predicting renal outcome in lower urinary tract obstruction (LUTO). METHODS: We retrospectively studied renal outcome following a prenatal diagnosis of LUTO in cases for which both fetal blood and fetal urine were sampled. We classified the renal outcome as either "favorable," when postnatal renal function was normal, or "adverse," in the case of postnatal chronic renal failure or when renal histological lesions were present at autopsy in the case of termination of pregnancy. A prognostic model was constructed for urine and serum separately. ß2-Microglobulin was the only remaining independent predictor in fetal urine. ß2-Microglobulin in serum and urine were compared by using receiver operating characteristic curves. RESULTS: In the 50 cases included, the rate of adverse outcome was 34 of 50(68%): autopsy confirmed severity of renal disease in all 27 cases who underwent termination of pregnancy, and among the 23 live born children, 7 developed renal failure. Fetal serum and urine markers were all significantly associated with renal outcome (P < .01). The receiver operating characteristic curves for fetal serum and fetal urinary ß2-microglobulin were similar (area under the curve = 0.908 versus 0.909, P = .96). CONCLUSION: Fetal serum biochemistry and fetal urine biochemistry are of similar prognostic value in predicting postnatal renal outcome in fetuses with LUTO.

11.
Emerg Infect Dis ; 23(9): 1548-1550, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28820372

RESUMEN

We report congenital microencephaly caused by infection with lymphocytic choriomeningitis virus in the fetus of a 29-year-old pregnant women at 23 weeks' gestation. The diagnosis was made by ultrasonography and negative results for other agents and confirmed by a positive PCR result for lymphocytic choriomeningitis virus in an amniotic fluid sample.


Asunto(s)
Coriomeningitis Linfocítica/diagnóstico por imagen , Virus de la Coriomeningitis Linfocítica/aislamiento & purificación , Microcefalia/diagnóstico por imagen , Complicaciones Infecciosas del Embarazo/diagnóstico por imagen , Aborto Legal , Femenino , Feto , Edad Gestacional , Humanos , Coriomeningitis Linfocítica/patología , Coriomeningitis Linfocítica/virología , Virus de la Coriomeningitis Linfocítica/genética , Microcefalia/patología , Microcefalia/virología , Embarazo , Complicaciones Infecciosas del Embarazo/patología , Complicaciones Infecciosas del Embarazo/virología , Ultrasonografía
12.
Am J Obstet Gynecol ; 216(5): 507.e1-507.e9, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28153664

RESUMEN

BACKGROUND: Clinical assessment of fetal head station is difficult and subjective; it is mandatory before attempting operative vaginal delivery. OBJECTIVE: The principal objective of our study was to assess whether measurement of the perineum-to-skull ultrasound distance was predictive of a difficult operative vaginal delivery. Secondary objectives included evaluation of the interobserver reproducibility of perineum-to-skull ultrasound distance and comparison of this measurement and digital examination in predicting a difficult operative delivery. STUDY DESIGN: This was a prospective cohort study including all cases of operative vaginal deliveries in singleton pregnancies in cephalic presentation >34 weeks' gestation, from 2012 through 2015. All data were entered prospectively in a medical record system specially devised to meet the requirements of this study. RESULTS: Of the 659 patients in whom perineum-to-skull ultrasound distance was measured prior to operative vaginal delivery, 120 (18%) met the composite criterion for a difficult extraction. Perineum-to-skull ultrasound distance measurement of ≥40 mm was significantly associated with the occurrence of a difficult extraction based on the composite criterion, after adjustment for parity, presentation type, and fetal macrosomia (odds ratio, 2.38; 95% confidence interval, 1.51-3.74; P = .0002). The intraclass correlation coefficient between the perineum-to-skull ultrasound distance measured by the first operator and that measured by the second operator was 0.96 (95% confidence interval, 0.95-0.97; P < .0001). Based on the receiver operating characteristic curve analyses, perineum-to-skull ultrasound distance was a more accurate predictor of difficult operative delivery than digital vaginal examination (P = .036). CONCLUSION: Measurement of the perineum-fetal skull ultrasound distance is a reproducible and predictive index of the difficulty of instrumental extraction. Ultrasound is a useful supplementary tool to the usual clinical findings.


Asunto(s)
Cabeza/diagnóstico por imagen , Forceps Obstétrico , Perineo/diagnóstico por imagen , Ultrasonografía Prenatal , Extracción Obstétrica por Aspiración , Adulto , Peso al Nacer , Estudios de Cohortes , Femenino , Feto , Humanos , Presentación en Trabajo de Parto , Funciones de Verosimilitud , Paridad , Valor Predictivo de las Pruebas , Embarazo
13.
Acta Obstet Gynecol Scand ; 96(4): 447-453, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27925148

RESUMEN

INTRODUCTION: The aim of this study is to evaluate the utility of digital examination in addition to ultrasonic measurement of cervical length for predicting spontaneous preterm delivery in women with threatened preterm labor. MATERIAL AND METHODS: This was a prospective cohort study in Strasbourg University Hospital, France, between January 2013 and January 2015. All women with a singleton pregnancy hospitalized with threatened preterm labor between 23 and 34 weeks of gestation were included. Cases of iatrogenic preterm delivery were excluded. A multivariable logistic regression model to estimate the significant predictive parameters of spontaneous preterm delivery was performed. The primary endpoint of our study was a preterm birth before 34 weeks of gestation. RESULTS: A total of 395 women were included in our study. The rate of preterm delivery before 34 weeks was 13%. In univariate analysis every single cervical parameter assessed by the digital examination and all the ultrasound parameters were significantly associated with preterm delivery. The final model included five variables predicting preterm birth: visualization of the membranes at the speculum examination (OR 15.8, 95% CI 2.43-146), ultrasound cervical length (OR 0.82, 95% CI 0.75-0.89), signs of inflammation (OR 6.23, 95% CI 2.07-22.9), gestational age on admission (OR 0.84, 95% CI 0.71-1.0), and presence of vaginal infection (OR 4.28, 95% CI 1.52-12.7). None of the cervical parameters assessed by the digital examination provided additional predictive value of preterm delivery. CONCLUSION: Our study suggests that digital examination does not add to the information given by vaginal ultrasound evaluation in predicting preterm labor.


Asunto(s)
Medición de Longitud Cervical , Rotura Prematura de Membranas Fetales/diagnóstico , Adulto , Cuello del Útero/diagnóstico por imagen , Estudios de Cohortes , Femenino , Rotura Prematura de Membranas Fetales/diagnóstico por imagen , Humanos , Modelos Logísticos , Examen Físico , Valor Predictivo de las Pruebas , Embarazo , Ultrasonografía Prenatal
14.
Prenat Diagn ; 36(4): 297-303, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26739350

RESUMEN

OBJECTIVES: Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS: This is a retrospective cohort study of all fetuses who underwent cystoscopy for prenatal diagnosis of LUTO in three tertiary referral centers. Fetal diagnostic cystoscopy was performed to determine prenatally the cause of LUTO and to ablate the posterior urethral valves (PUV). RESULTS: A total of 50 fetal cystoscopies were performed, revealing PUV in 31 (62%) fetuses, urethral atresia (UA) in 14 (28%) fetuses, and urethral stenosis (US) in 5 (10%) fetuses. Two fetuses had trisomy 18 diagnosed after fetal cystoscopy and were excluded from the present analysis. Fetal cystoscopy was accurate in the diagnosis of the etiology of LUTO in 32/35 (91.4%). There were no survivors in the UA group. One fetus with US underwent urethral stenting and survived with normal renal function at 2 years of life. Among the infants with PUV, 17/30 (56.7%) infants survived, and 13/17 (76.5%) had normal renal function at 1 year of life; 15/28 (53.6%) infants survived, and 11/15 (73.3%) had normal renal function at 2 years. CONCLUSIONS: Fetal cystoscopy is accurate in the diagnosis of the etiology of LUTO and serves as a guide to the specific prenatal treatment. This procedure is associated with modest long-term survival (54%) but with adequate preserved normal renal function in two thirds of the infants among fetuses with PUV.


Asunto(s)
Cistoscopía/métodos , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/cirugía , Fetoscopía/métodos , Obstrucción del Cuello de la Vejiga Urinaria/diagnóstico por imagen , Obstrucción del Cuello de la Vejiga Urinaria/cirugía , Femenino , Enfermedades Fetales/etiología , Estudios de Seguimiento , Humanos , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Obstrucción del Cuello de la Vejiga Urinaria/etiología
15.
Prenat Diagn ; 36(12): 1139-1145, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27764900

RESUMEN

OBJECTIVE: The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD: This was a single-center cohort prospective study carried out in pregnancies complicated by TTTS and treated by laser. Neurodevleopmental assesment included the administration of Ages and Stages Questionnaires® (ASQ), for the infants between 2 and 5 years of age. RESULTS: A total of 187 patients underwent a laser for TTTS between 2004 and 2013. Significant brain lesions were detected in eight (2.9%) cases by ultrasound and/or magnetic resonance imaging including intraventricular hemorrhage, periventricular leukomalacia, and porencephaly. Questionnaires were administered to 126 children (50.4%) at 24 months or older at the moment of testing. There were 13.5% of those infants who had an abnormal ASQ (established as one area or more scoring < 2 SD) at 3.6 years ±1.3 follow-up. There was a higher rate of abnormal ASQ among the infants with a birth weight below the fifth percentile (p = 0.036). CONCLUSION: Twin-twin transfusion syndrome is associated with a risk of abnormal neurological development, even in case of laser surgery. Further studies are necessary to identify the risk factors for neurological impairment. © 2016 John Wiley & Sons, Ltd.


Asunto(s)
Encéfalo/diagnóstico por imagen , Hemorragia Cerebral/diagnóstico por imagen , Terapias Fetales/métodos , Transfusión Feto-Fetal/cirugía , Terapia por Láser/métodos , Leucomalacia Periventricular/diagnóstico por imagen , Trastornos del Neurodesarrollo/fisiopatología , Porencefalia/diagnóstico por imagen , Adulto , Hemorragia Cerebral/epidemiología , Ventrículos Cerebrales/diagnóstico por imagen , Preescolar , Estudios de Cohortes , Ecoencefalografía , Femenino , Humanos , Leucomalacia Periventricular/epidemiología , Imagen por Resonancia Magnética , Trastornos del Neurodesarrollo/epidemiología , Porencefalia/epidemiología , Embarazo , Estudios Prospectivos , Encuestas y Cuestionarios , Gemelos Monocigóticos , Adulto Joven
16.
Fetal Diagn Ther ; 40(1): 63-6, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-25660567

RESUMEN

We report below a case of in utero tracheoscopy with laser collapse of a bronchogenic cyst obstructing the fetal trachea. The patient was referred for ultrasonography at 24 weeks of gestation because of fetal hydrops. Tracheoscopy was performed via fetoscopic approach using a single trocar under local anesthesia with lidocaine and ultrasound guidance. This revealed an image suggestive of a cyst obstructing the middle third at the anterior base of the trachea. Coagulation using a diode laser enabled us to collapse this fluid-filled cyst with three 10-watt bursts (3 times 3 s) and to visualize a completely unobstructed tracheobronchial tree with significant pulmonary fluid reflux on removal of the obstacle. The fetal condition improved markedly within 48 h after the procedure. To the best of our knowledge, this is the first described case of in utero treatment of a tracheal obstruction by tracheoscopy and laser. In severe cases of obstruction of the fetal airways, whether the obstacle is situated in a high or low position, fetal endoscopy is of diagnostic and potentially therapeutic utility.


Asunto(s)
Obstrucción de las Vías Aéreas/cirugía , Fetoscopía , Quiste Mediastínico/cirugía , Adulto , Obstrucción de las Vías Aéreas/diagnóstico por imagen , Obstrucción de las Vías Aéreas/embriología , Femenino , Humanos , Quiste Mediastínico/diagnóstico por imagen , Quiste Mediastínico/embriología , Embarazo , Ultrasonografía Prenatal
17.
Fetal Diagn Ther ; 39(3): 192-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26405805

RESUMEN

OBJECTIVE: To evaluate the short-term renal function in neonates with twin anemia-polycythemia sequence (TAPS). METHODS: All consecutive monochorionic twins with TAPS with double survivors admitted to three European centers were included in this retrospective study. Each twin pair was matched for gestational age at birth with a control twin pair unaffected by TAPS or twin-twin transfusion syndrome. Creatinine and urea levels in the first week after birth were recorded. Short-term postnatal renal dysfunction was defined as creatinine >100 µmol/l during the first week after birth. RESULTS: A total of 52 TAPS twin pairs and 52 control twin pairs with a median gestational age of 31 weeks at birth were included in the study. In the TAPS group, donors had higher mean creatinine levels compared to recipients, 85 versus 71 µmol/l, respectively (p = 0.001). Short-term renal dysfunction was detected in 26.0% (13/50) of the donors versus 6.3% (3/48) of the recipients (p = 0.022). In the control group, no inter-twin differences in creatinine levels were found. CONCLUSIONS: Donor twins with TAPS have higher creatinine levels than recipient twins, suggesting that chronic inter-twin transfusion in TAPS may also cause short-term renal dysfunction. Long-term renal consequences in TAPS donors require further investigation.


Asunto(s)
Transfusión Feto-Fetal/complicaciones , Policitemia/complicaciones , Creatina/sangre , Femenino , Transfusión Feto-Fetal/sangre , Edad Gestacional , Humanos , Policitemia/sangre , Embarazo , Nacimiento Prematuro , Recuento de Reticulocitos , Estudios Retrospectivos , Urea/sangre
18.
Clin Infect Dis ; 60(6): 860-7, 2015 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-25452591

RESUMEN

BACKGROUND: Bacterial vaginosis is a risk factor for preterm birth. The various conventional methods for its diagnosis are laborious and not easily reproducible. Molecular quantification methods have been reported recently, but the specific risk factors they might identify remain unclear. METHODS: A prospective multicenter national study included pregnant women at risk of preterm birth. A quantitative molecular tool using a specific real-time polymerase chain reaction assay and serial dilutions of a plasmid suspension quantified Atopobium vaginae, Gardnerella vaginalis, lactobacilli, Mycoplasma hominis, and the human albumin gene (for quality control). RESULTS: In 813 pregnancies, high vaginal loads of either or both of A. vaginae and G. vaginalis were associated with preterm birth (hazard ratio [HR], 3.9; 95% confidence interval {CI}, 1.1-14.1; P = .031). A high vaginal load of A. vaginae was significantly associated with shortened time to delivery and therefore pregnancy length. These times were, respectively, 152.2 and 188.2 days (HR, 5.6; 95% CI, 1.5-21.3; P < .001) before 22 weeks, 149.0 and 183.2 days (HR, 2.8; 95% CI, 1.1-8.2; P = .048) before 28 weeks, and 132.6 and 170.4 days (HR, 2.2; 95% CI, 1.1-4.6; P = .033) before 32 weeks. After multivariate analysis, A. vaginae levels ≥10(8) copies/mL remained significantly associated with delivery before 22 weeks of gestation (adjusted HR, 4.7; 95% CI, .2-17.6; P = .014). CONCLUSIONS: High vaginal loads of A. vaginae and G. vaginalis are associated with late miscarriage and prematurity in high-risk pregnancies. A high vaginal load of A. vaginae (DNA level ≥10(8) copies/mL) identifies a population at high risk of preterm birth. Further studies that both screen for and then treat A. vaginae are needed. CLINICAL TRIALS REGISTRATION: NCT00484653.


Asunto(s)
Actinobacteria/aislamiento & purificación , Gardnerella vaginalis/aislamiento & purificación , Complicaciones Infecciosas del Embarazo/microbiología , Nacimiento Prematuro/microbiología , Vaginosis Bacteriana/microbiología , Actinobacteria/genética , Adulto , Carga Bacteriana , Femenino , Gardnerella vaginalis/genética , Humanos , Lactobacillus/genética , Lactobacillus/aislamiento & purificación , Mycoplasma hominis/genética , Mycoplasma hominis/aislamiento & purificación , Embarazo , Embarazo de Alto Riesgo , Estudios Prospectivos , Reacción en Cadena en Tiempo Real de la Polimerasa
19.
Lancet ; 383(9935): 2144-51, 2014 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-24613024

RESUMEN

BACKGROUND: Monochorionic twin pregnancies complicated by twin-to-twin transfusion syndrome are typically treated with fetoscopic laser coagulation. Postoperative complications can occur due to residual vascular anastomoses on the placenta. We aimed to assess the efficacy and safety of a novel surgery technique that uses laser coagulation of the entire vascular equator (Solomon technique). METHODS: We undertook an open-label, international, multicentre, randomised controlled trial at five European tertiary referral centres. Women with twin-to-twin transfusion syndrome were randomly assigned by online randomisation (1:1) with permuted blocks to the Solomon technique or standard laser coagulation. The primary outcome was a composite of incidence of twin anaemia polycythaemia sequence, recurrence of twin-to-twin transfusion syndrome, perinatal mortality, or severe neonatal morbidity. Analyses were by intention to treat, with results expressed as odds ratios (ORs) and 95% CIs. This trial is registered with the Dutch Trial Registry, number NTR1245. FINDINGS: Between March 11, 2008, and July 12, 2012, 274 women were randomly assigned to either the Solomon group (n=139) or the standard treatment group (n=135). The primary outcome occurred in 94 (34%) of 274 fetuses in the Solomon group versus 133 (49%) of 270 in the standard treatment group (OR 0·54; 95% CI 0·35-0·82). The Solomon technique was associated with a reduction in twin anaemia polycythaemia sequence (3% vs 16% for the standard treatment; OR 0·16, 95% CI 0·05-0·49) and recurrence of twin-to-twin transfusion syndrome (1% vs 7%; 0·21, 0·04-0·98). Perinatal mortality and severe neonatal morbidity did not differ significantly between the two groups. Outside of the common and well-known complications of twin-to-twin transfusion syndrome and its treatment, no serious adverse events occurred. INTERPRETATION: Fetoscopic laser coagulation of the entire vascular equator reduces postoperative fetal morbidity in severe twin-to-twin transfusion syndrome. We recommend that fetoscopic surgeons consider adopting this strategy for treatment of women with twin-to-twin transfusion syndrome. FUNDING: Netherlands Organization for the Health Research and Development (ZonMw 92003545).


Asunto(s)
Transfusión Feto-Fetal/cirugía , Fetoscopía , Coagulación con Láser/métodos , Adulto , Femenino , Humanos , Placenta/irrigación sanguínea , Embarazo , Resultado del Tratamiento , Procedimientos Quirúrgicos Vasculares/métodos
20.
Prenat Diagn ; 35(3): 281-8, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25484182

RESUMEN

OBJECTIVE: The aim of this study is to analyze the relevance of the prenatal and postnatal diagnostic parameters of twin anemia-polycythemia sequence (TAPS). METHODS: Diagnostic data of all cases of TAPS followed in our institution between 2006 and 2013 were reviewed. Statistical analyses were conducted using Bayesian methods. RESULTS: Twenty cases of TAPS were included. We found a relationship between the hemoglobin level and the middle cerebral artery peak systolic velocity (coefficient -0.25 [-0.34, -0.15], Pr(coef < 0) = 99.99%). Sensitivity and specificity of the prenatal diagnosis were 71% and 50%, respectively, regarding the correspondence with postnatal diagnosis. There was no correlation between the number [odds ratio (OR) = 0.89 [0.72, 1.10], Pr(OR > 1) = 14.8%)], the mean diameter (OR = 0.98 [0.32, 3.06], Pr(OR > 1) = 48.9%), or the total diameter (OR = 0.79 [0.36, 1.53], Pr(OR > 1) = 26.3%) of arteriovenous anastomoses and the severity of TAPS. CONCLUSION: Middle cerebral artery peak systolic velocity is a reliable tool for estimating the hemoglobin level in cases of TAPS. The correspondence between prenatal and postnatal diagnosis is imperfect. Further studies are required to evaluate opportunity of widening postnatal diagnostic criteria. © 2014 John Wiley & Sons, Ltd.


Asunto(s)
Anemia Neonatal/diagnóstico , Velocidad del Flujo Sanguíneo , Transfusión Feto-Fetal/diagnóstico , Hemoglobinas/metabolismo , Arteria Cerebral Media/diagnóstico por imagen , Policitemia/diagnóstico , Embarazo Gemelar , Gemelos Monocigóticos , Adulto , Anemia Neonatal/diagnóstico por imagen , Anemia Neonatal/metabolismo , Teorema de Bayes , Estudios de Cohortes , Femenino , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/metabolismo , Edad Gestacional , Humanos , Recién Nacido , Policitemia/diagnóstico por imagen , Policitemia/metabolismo , Embarazo , Estudios Prospectivos , Ultrasonografía Prenatal , Adulto Joven
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