RESUMO
OBJECTIVE: To evaluate the role of prenatal prognostic markers obtained routinely by ultrasound examination and magnetic resonance imaging (MRI) in the prediction of development of postnatal pulmonary arterial hypertension (PAH) in isolated congenital diaphragmatic hernia (CDH). METHODS: One hundred and ten cases of isolated CDH were referred to our fetal medicine unit between January 2004 and April 2013. Mortality and morbidity rates were reviewed for those presenting with postnatal PAH. The following prenatal markers were evaluated as potential predictive factors of PAH: liver position, side of the CDH defect, lung area to head circumference ratio (LHR) and observed/expected LHR (o/e-LHR), which were measured by ultrasound, and observed/expected total fetal lung volume (o/e-TFLV), which was measured by MRI. Univariable logistic regression was used to assess associations. RESULTS: PAH was significantly associated with perinatal mortality and morbidity (P < 0.001). The occurrence of PAH decreased significantly with an increasing LHR, o/e-LHR and o/e-TFLV and was significantly increased for cases with an intrathoracic liver, but not for those with right-sided defects. Univariable regression revealed that o/e-TFLV (odds ratio (OR), 0.9 (95% CI, 0.86-0.95); P < 0.05 for percentage unit change in o/e), LHR (OR, 0.19 (95% CI, 0.09-0.40); P < 0.05 for unit change), o/e-LHR (OR, 0.95 (95% CI, 0.93-0.98); P < 0.05 for percentage unit change in o/e) and liver position (OR, 2.82 (95% CI, 1.13-7.00); P < 0.05 for intrathoracic liver) were significant predictors of subsequent PAH. No differences were found after adjusting for gestational age at delivery. The areas under the receiver-operating characteristics curve were 0.80 and 0.75 for o/e-TFLV and o/e-LHR, respectively. CONCLUSION: In cases of CDH, PAH is associated with high rates of mortality and morbidity. Routinely obtained prenatal markers, usually used for the assessment of pulmonary hypoplasia, are also relevant for the postnatal prediction of PAH.
Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico , Hipertensão Pulmonar/diagnóstico , Fígado/patologia , Medidas de Volume Pulmonar/métodos , Pulmão/patologia , Ultrassonografia Pré-Natal , Feminino , Idade Gestacional , Cabeça , Hérnias Diafragmáticas Congênitas/embriologia , Hérnias Diafragmáticas Congênitas/patologia , Humanos , Hipertensão Pulmonar/embriologia , Hipertensão Pulmonar/patologia , Recém-Nascido , Fígado/embriologia , Pulmão/embriologia , Valor Preditivo dos Testes , Gravidez , Prognóstico , Taxa de SobrevidaAssuntos
Linfangiectasia/epidemiologia , Vasos Linfáticos/anormalidades , Complicações Pós-Operatórias/epidemiologia , Malformações Vasculares/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Linfangiectasia/etiologia , Linfangiectasia/cirurgia , Vasos Linfáticos/cirurgia , Masculino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento , Malformações Vasculares/etiologia , Adulto JovemRESUMO
OBJECTIVE: To establish a correlation between prenatal ultrasound findings and postnatal outcome in neonates with gastroschisis (GS). DESIGN: Retrospective case-control study. SETTING: Prenatal ultrasound reports, labour and neonatal intensive care unit notes, and paediatric surgical clinic records were reviewed. POPULATION: Neonates with an antenatal diagnosis of isolated GS. METHODS: The neonates were divided into two groups: one with associated bowel complications including intestinal atresia, perforation, necrosis or volvulus ('complex' GS), and the second without bowel complication ('simple' GS). Prenatal ultrasound markers: small-for-gestational-age, intra-abdominal and extra-abdominal bowel dilatation (>6 mm), thickened intestinal wall and stomach dilatation were correlated with outcome. MAIN OUTCOME MEASURES: Fetal or neonatal death in complex versus simple GS. Time on parenteral nutrition and duration of hospital stay were also noted. RESULTS: In all, 105 cases were eligible for analysis. Survival rate was 101/105 (96.2%). None of the ultrasound markers was predictive of fetal or neonatal death. Fourteen of 103 live-born babies (14.6%) had complex GS, which was associated with longer time on parenteral nutrition [8.0 (51.5-390) versus 33.5 (25.3-53.3) days, P<0.001] and longer duration of hospital stay [85.3 (55.5-210) versus 41.5 (33.0-64.8) days, P<0.001]. Infants with complex GS were more likely to require bowel resection and stoma placement (P<0.05). Intra-abdominal bowel dilatation was the only predictive ultrasound marker of complex GS (odds ratio 4.13, 95% CI 1.32-12.90; P=0.018). Receiver operating characteristic curve for observed/expected bowel diameter yielded 6 as the cutoff value for predicting complex GS (odds ratio 7.9, 95% CI 2.3-27.3; P=0.001) with 54% and 88% for sensibility and specificity, respectively. CONCLUSIONS: Intra-abdominal bowel dilatation is the only ultrasound marker predictive of complex GS but it is a strong marker.
Assuntos
Gastrosquise/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Estudos de Casos e Controles , Dilatação Patológica/diagnóstico por imagem , Feminino , Gastrosquise/mortalidade , Idade Gestacional , Humanos , Tempo de Internação , Nutrição Parenteral/estatística & dados numéricos , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez , Curva ROC , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVES: To assess the perinatal outcome of fetuses with gastroschisis complicated by secondary bladder herniation. POPULATION AND MATERIALS: This was a retrospective study of all cases of isolated gastroschisis associated with bladder herniation managed at our institution. Prenatal ultrasound, obstetrical and perinatal information were collected. Pathology reports were also gathered. RESULTS: Out of 105 cases of gastroschisis managed at our institution, six (5.7%) were associated with secondary bladder herniation, two of them being diagnosed postnatally. Median gestational age at diagnosis of bladder herniation was 33.6 weeks (range 31-36) in five female and one male fetuses. Bladder herniation was associated with bowel dilatation in four cases (67%) and with pyelic dilatation in one case (17%). Despite increased surveillance, one male fetus died in utero. In four other cases, cesarean section was performed for fetal distress (three cases) or hyperechogenic bowels (one case). The five survivors had primary abdominal closure (n = 2) or staged repair (n = 3) with uneventful follow-up. CONCLUSION: Bladder herniation was present in 6% of apparently isolated gastroschisis. There was one intrauterine fetal death and four other cases were delivered for fetal distress. Increased surveillance seems justified.
Assuntos
Monitorização Fetal/métodos , Gastrosquise/terapia , Hérnia/terapia , Resultado da Gravidez/epidemiologia , Doenças da Bexiga Urinária/terapia , Adulto , Estudos de Coortes , Feminino , Morte Fetal/epidemiologia , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Doenças Fetais/terapia , Gastrosquise/complicações , Gastrosquise/diagnóstico , Gastrosquise/epidemiologia , Idade Gestacional , Hérnia/complicações , Hérnia/diagnóstico , Hérnia/epidemiologia , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Doenças da Bexiga Urinária/complicações , Doenças da Bexiga Urinária/diagnóstico , Doenças da Bexiga Urinária/epidemiologia , Adulto JovemRESUMO
OBJECTIVES: Fetal therapy is part of the available care offer for several severe malformations. The place of these emergent prenatal interventions in the prenatal path of care is poorly known. The objective of this study is to describe the decision-making process of patients facing the option of an emergent in utero intervention. METHODS: We have conducted a retrospective monocentric descriptive study in the department of maternal-fetal medicine of Necker Hospital. We collected data regarding eligibility or not for fetal surgery and the pregnancy outcomes of patients referred for myelomeningocele, diaphragmatic hernia, aortic stenosis and low obstructive uropathies. RESULTS: All indications combined, 70% of patients opted for fetal surgery. This rate was lower in the case of myelomeningocele with 21% consent, than in the other pathologies: 69% for diaphragmatic hernias, 90% for aortic stenoses and 76% for uropathy. When fetal intervention was declined, the vast majority of patients opted for termination of pregnancy: 86%. In 14% of the considering fetal surgery, the patient was referred too far. CONCLUSION: The acceptance rate for fetal surgeries depends on condition. It offers an additional option and is an alternative for couples for which termination of pregnancy (TOP) is not an option. Timely referral to an expert center allows to discuss the place of a fetal intervention and not to deprive couples of this possibility.
Assuntos
Aborto Induzido , Terapias Fetais , Hérnias Diafragmáticas Congênitas , Feminino , Humanos , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: Prognosis of infants with omphalocele depends on many factors, including associated anomalies. "Small" omphaloceles are believed to have more often WB syndrome, but so far no prenatal criterion has been demonstrated to predict associated anomalies. The aim of this study was to assess the outcomes of omphaloceles with prenatal diagnosis, and to seek for any correlation between the herniated viscera in the first trimester and the risk of associated anomalies. METHODS: We conducted a retrospective study at the Necker Enfants Malades Hospital between 2008 and 2018. Pregnancy outcomes and post natal data were collected and compared to the omphalocele content in the first trimester. RESULTS: One hundred and ninety-one women with antenatal diagnosis of omphalocele were included. Twenty-eight percent were isolated at birth, 32% had a polymalformative syndrome with chromosomal anomaly, 13% had a polymalformative syndrome without genetic anomaly, 9% had a Wiedemann-Beckwith syndrome, 7% had an association with cardiopathy, 6% had a limb body wall complex, 3% had OEIS complex and one case had a Cantrell pentalogy. The presence of the liver in the omphalocele during the first trimester was a predictive factor of heart disease (85.7% vs 48.6% P=0.01). The presence of bowel in the omphalocele during the first trimester was a predictor of chromosomal abnormalities (69.6% vs 37.2% P<0.001). Omphalocele content in the first trimester was not predictive of Wiedemann-Beckwith syndrome. CONCLUSION: Ultrasound analysis in the first trimester of omphalocele content is a valuable clue for prenatal counseling and diagnosis of associated abnormalities.
Assuntos
Anormalidades Múltiplas/diagnóstico , Aberrações Cromossômicas , Diagnóstico Precoce , Hérnia Umbilical/diagnóstico , Diagnóstico Pré-Natal , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/epidemiologia , Aberrações Cromossômicas/estatística & dados numéricos , Feminino , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Hérnia Umbilical/genética , Hérnia Umbilical/patologia , Humanos , Recém-Nascido , Intestinos/patologia , Fígado/patologia , Gravidez , Primeiro Trimestre da Gravidez , Prognóstico , Ultrassonografia Pré-NatalRESUMO
Foreign body ingestion is a common pediatric complaint. Most foreign bodies pass spontaneously through the gastrointestinal tract, but bowel obstruction is a rare complication that can occur. We report a case of a 14-month-old infant with complete bowel obstruction due to ingestion of a polymer bead used for botanical arrangements. A laparotomy was performed to remove the object, resolving the symptoms. Polymer beads are brightly coloured and are of a size that is easy to swallow by very young children, increasing the risk of accidental ingestion. They increase in size over a short period of time during their passage through the gastrointestinal tract, causing significant morbidity.
Assuntos
Corpos Estranhos/complicações , Obstrução Intestinal/etiologia , Intestino Delgado , Ingestão de Alimentos , Feminino , Humanos , Lactente , PolímerosRESUMO
OBJECTIVES: Congenital chylothorax is a rare disease and prognostic factors are key element in properly informing parents. This study aimed at determining the prenatal factors associated with neonatal survival in a cohort of liveborn infants with congenital chylothorax. STUDY DESIGN: Observational monocentric cohort study including all liveborn neonates consecutively admitted for congenital chylothorax. RESULTS: Neonatal mortality was 32% (16/50). Prematurity (or birth weight), persistence of hydrops at birth and the absence of thoracoamniotic shunt procedure were significantly associated with mortality, whereas prenatal diagnosis of pleural effusion, side of pleural effusion, hydrops fetalis and amniodrainage were not. In case of prenatal diagnosis of hydrops fetalis, the reversal in utero of hydrops fetalis was significantly associated with survival (P=0.001). In case of thoracoamniotic shunting, the interval between thoracoamniotic shunting intervention and delivery was significantly longer for patients who survived (P=0.03). CONCLUSIONS: Thoracoamniotic shunting and reversal of hydrops significantly improves survival, whereas prematurity worsened outcome of liveborn infants with congenital chylothorax. Our data also suggest that the interval between thoracoamniotic shunting and birth appears to be crucial; the longer the interval, the more likely is the reversal of antenatal hydrops and neonatal survival.
Assuntos
Quilotórax/congênito , Hidropisia Fetal/cirurgia , Derrame Pleural/cirurgia , Adolescente , Adulto , Líquido Amniótico , Quilotórax/mortalidade , Estudos de Coortes , Drenagem/métodos , Feminino , Morte Fetal , França , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/mortalidade , Recém-Nascido , Recém-Nascido Prematuro , Modelos Logísticos , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/mortalidade , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Taxa de Sobrevida , Toracostomia/métodos , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis before or after delivery. This type of condition justifies the transfer of pregnant women to a specialized hospital where the newborn may receive appropriate care. We report the case of a 31-week and 4-day gestational-age fetus in whom intrauterine growth retardation and small-bowel volvulus were diagnosed. Additional imaging revealed associated Joubert syndrome. This highlights the need for regular ultrasound monitoring during pregnancy and the comanagement of obstetricians and pediatricians to provide appropriate care before and after delivery.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico por imagem , Volvo Intestinal/diagnóstico por imagem , Doenças Renais Císticas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Retina/anormalidades , Adulto , Cerebelo/diagnóstico por imagem , Anormalidades do Olho/complicações , Feminino , Humanos , Volvo Intestinal/complicações , Intestino Delgado/diagnóstico por imagem , Doenças Renais Císticas/complicações , Gravidez , Retina/diagnóstico por imagemRESUMO
OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.
Assuntos
Atresia Esofágica/diagnóstico , Atresia Esofágica/terapia , Diagnóstico Pré-Natal , Fatores Etários , Atresia Esofágica/classificação , Feminino , Humanos , Recém-Nascido , Gravidez , Estudos Prospectivos , Resultado do TratamentoRESUMO
Lymphedema associated with other developmental malformations (Milroy syndrome, Hennekam syndrome, Noonan syndrome, Gorham-Stout syndrome, yellow nail syndrome) are unfrequent disease, but explorations led to the identification of genetic mutations that have then been validated in mouse models. However, lymphatic vessels complexity and its proximity with the venous system suggest the need for further researches, especially in the comprehension of pulmonary symptoms.
Assuntos
Pneumopatias/complicações , Doenças Linfáticas/complicações , Animais , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/terapia , Pestanas/anormalidades , Doenças dos Genitais Masculinos/complicações , Doenças dos Genitais Masculinos/diagnóstico , Doenças dos Genitais Masculinos/terapia , Humanos , Pneumopatias/diagnóstico , Pneumopatias/terapia , Linfangiectasia Intestinal/complicações , Linfangiectasia Intestinal/diagnóstico , Linfangiectasia Intestinal/terapia , Doenças Linfáticas/terapia , Linfedema/complicações , Linfedema/diagnóstico , Linfedema/terapia , Camundongos , Síndrome de Noonan/complicações , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/terapia , Osteólise Essencial/complicações , Osteólise Essencial/diagnóstico , Osteólise Essencial/terapia , Síndrome das Unhas Amareladas/complicações , Síndrome das Unhas Amareladas/diagnóstico , Síndrome das Unhas Amareladas/terapiaRESUMO
Congenital cystic adenomatoid malformations (CCAM) of the lung are the most frequent congenital lung malformations. Their diagnosis is based on histological features. CCAM consist of bronchopulmonary cystic lesions which are classified according to the presence and cysts size. Type I CCAM are composed of large cysts (>2 cm) lined by a columnar pseudostratified epithelium. Type II CCAM contain multiple small cystic lesions (<1 cm) lined by a flattened cuboidal epithelium. Type III CCAM are more solid and contain immature structures resembling the pseudoglandular stage of lung development. Ultrasonography (US) allows early detection during the second trimester of pregnancy as cystic, and/or hyperechoic fetal lung lesions. Although most CCAM remain asymptomatic, CCAM can cause polyhydramnios or fetal hydrops, respiratory distress at birth, infections and pneumothoraces during infancy, and may give rise to malignancies. Serial US allow detection of complications, and planification of delivery. Complicated forms require an urgent treatment. In fetuses with a macrocystic life-threatening lesion, a thoraco-amniotic shunt can be placed. Microcystic compressive forms may respond to prenatal steroids. Post-natal symptomatic lesions require early surgery. The treatment of asymptomatic forms remains controversial. Some recommend a non-operative approach with a long-term clinical and radiological following, whereas other favour a preventive surgical excision. The origin of CCAM remains unknown. Recent advances suggest a transient and focal abnormality in lung development which may result from an airway obstruction. This article reviews the diagnosis, treatment, and pathophysiology of CCAM.
Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Fatores Etários , Pré-Escolar , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico , Malformação Adenomatoide Cística Congênita do Pulmão/etiologia , Malformação Adenomatoide Cística Congênita do Pulmão/terapia , Feminino , Fetoscopia/métodos , Humanos , Lactente , Recém-Nascido , Pneumonectomia/estatística & dados numéricos , Gravidez , Diagnóstico Pré-NatalRESUMO
Advances in antenatal imaging over the past 10 years have completely changed diagnosis and management of congenital lung disease, especially for congenital cystic adenomatoid malformations and sequestrations that are the two lesions most commonly detected. If early surgical excision is required for symptomatic cases, management of asymptomatic malformations is still discussed. The natural evolution and consequences of later complications of congenital lung malformations need to be compared with the benefits of elective resection and surgical morbidity. Complete regression of sequestrations or clinical and morphological improvement in congenital lobar emphysema pleads for clinical watching. On the other hand, resection is advocated for cystic malformations, because of an increased risk of acute respiratory distress, later infections and the possibility of malignant transformation. Even though the proportion of asymptomatic patients that go on to develop symptoms is hard to evaluate, an argument for elective surgery is a better outcome than emergency surgery. Further studies and long term follow-up are still needed to understand the natural history of congenital lung malformations precisely and help to define the optimal way in which to manage them.
Assuntos
Tomada de Decisões , Anormalidades do Sistema Respiratório/diagnóstico , Anormalidades do Sistema Respiratório/terapia , Árvores de Decisões , Embolização Terapêutica , Feminino , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/terapiaRESUMO
Both technical and anatomical features and the need for a long follow-up, usually over several years, explain the specificity of lung surgery in children. Apart from the oncological resections, the main indications for this surgery are congenital lung anomalies (cystic adenomatoid malformation, bronchopulmonary sequestration, lobar emphysema), symptomatic postinfectious lesions (bronchiectasis, atelectasis, abscess) and pneumothorax. Advances in miniaturization of the surgical equipment are used to carry the majority of these interventions by thoracoscopy, except when performed at the neonatal period. In the newborn, for which the indications for lung surgical resections are exceptional, ventilatory conditions and the tightness of the chest lead to still prefer open surgery. Pulmonary malformations can also be managed prenatally when they affect lung development or cause heart failure because of compressive complications. These interventions, performed after the 30th week of gestation, are not intended to remove the lesions, but to release the compression. But these procedures are still under evaluation and, in light of possible fetal and maternal complications, they should only be performed in tertiary centers and in the context of specific protocols.