RESUMEN
The aim of this study was to evaluate the paediatric and maternal outcome after ex utero intrapartum treatment (EXIT). A retrospective review was carried out of the medical charts (gestational age, circumstances of diagnosis, multidisciplinary prenatal decision, date of surgery, paediatric and maternal outcome) of all the fetuses eligible for/delivered via the EXIT procedure in our paediatrics and obstetrics tertiary care and teaching centre, between October 2004 and May 2011. Seven fetuses with cervical teratoma, epignathus tumour or congenital high airway obstruction syndrome (CHAOS) were included in our study. Two pregnancies were terminated and five fetuses were delivered alive. The airway was secured in all five cases (two endotracheal intubations and three tracheostomies). No maternal complications were observed. On average, babies were delivered at 32 gestational weeks, and spent 31 days in the intensive care unit. All but one baby were ventilated for 18 days. Long-term paediatric outcome was favourable. It is concluded that airway management by the EXIT procedure has become an efficient technique. A multidisciplinary prenatal assessment is essential in order to select appropriate cases.
Asunto(s)
Obstrucción de las Vías Aéreas/congénito , Neoplasias de Cabeza y Cuello/complicaciones , Placenta , Teratoma/complicaciones , Obstrucción de las Vías Aéreas/cirugía , Femenino , Enfermedades Fetales/cirugía , Neoplasias de Cabeza y Cuello/congénito , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Recién Nacido , Embarazo , Estudios Retrospectivos , Teratoma/congénito , Teratoma/cirugíaRESUMEN
Epignathus teratoma is a rare tumor whose prognosis essentially depends on its resectability and on neonatal care. When it is undiagnosed prenatally, mortality is close to 100 % at birth, because of obstruction of the upper airways. We present a case of epignathus teratoma detected during obstetrical ultrasound screening. Diagnosis enabled planning for a safe delivery in a suitable multidisciplinary unit and use of the EXIT procedure.
Asunto(s)
Obstrucción de las Vías Aéreas/cirugía , Enfermedades Fetales/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Ultrasonografía Prenatal , Adulto , Obstrucción de las Vías Aéreas/mortalidad , Obstrucción de las Vías Aéreas/prevención & control , Cesárea , Femenino , Edad Gestacional , Humanos , Recién Nacido , Laringe , Nariz , Embarazo , Pronóstico , LenguaRESUMEN
In a context of foetal obstructive uropathies, biochemical markers can be helpful to assess the renal function, but most studies to date have focused on their correlation with ultrasound findings and neonatal outcome. Our aim was to evaluate foetal ß2-microglobulin as an index of histological injury to the kidney. ß2-microglobulin was measured in serum and/or urine from 27 foetuses with bilateral obstructive uropathy, and compared to the findings of kidney examination following the termination of pregnancy. In serum, increased ß2-microglobulin levels correlated to a decreased number of glomeruli, a reduction in the blastema and the presence of primitive ducts reflecting renal hypoplasia and dysplasia. However, elevated ß2-microglobulin levels in the urine correlated only to a decreased number of glomeruli.
Asunto(s)
Enfermedades Fetales/diagnóstico , Húmero/anomalías , Enfermedades Renales/diagnóstico , Riñón/anomalías , Deformidades Congénitas de las Extremidades/diagnóstico , Radio (Anatomía)/anomalías , Anomalías Urogenitales/diagnóstico , Microglobulina beta-2/sangre , Aborto Eugénico , Biomarcadores/sangre , Biomarcadores/orina , Facies , Femenino , Enfermedades Fetales/sangre , Enfermedades Fetales/orina , Feto , Edad Gestacional , Humanos , Enfermedades Renales/sangre , Enfermedades Renales/orina , Deformidades Congénitas de las Extremidades/sangre , Deformidades Congénitas de las Extremidades/orina , Embarazo , Diagnóstico Prenatal , Anomalías Urogenitales/sangre , Anomalías Urogenitales/orina , Microglobulina beta-2/orinaAsunto(s)
Síndrome de Cornelia de Lange/diagnóstico por imagen , Pestañas/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos , Proteínas de Ciclo Celular , Síndrome de Cornelia de Lange/complicaciones , Síndrome de Cornelia de Lange/genética , Femenino , Enfermedades Fetales/genética , Hernia Diafragmática/complicaciones , Hernia Diafragmática/diagnóstico por imagen , Hernias Diafragmáticas Congénitas , Humanos , Embarazo , Segundo Trimestre del Embarazo , Proteínas/genéticaAsunto(s)
Retardo del Crecimiento Fetal/diagnóstico por imagen , Arteria Oftálmica/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Aborto Inducido , Adulto , Femenino , Retardo del Crecimiento Fetal/patología , Humanos , Recién Nacido , Masculino , Neovascularización Patológica , Arteria Oftálmica/anomalías , Arteria Oftálmica/patología , Embarazo , Tercer Trimestre del EmbarazoRESUMEN
Ultrasound scanning is able to detect foetal goiter due either to an hypothyroidy either to an hyperthyroidy, or clitoris hypertrophia resulting from adrenal hyperplasia in female, during the second half of pregnancy. The diagnosis of these rare diseases is of interest because the treatment can be started during pregnancy. An amniotic fluid punction can be discussed and its biochemical analysis may be of interest even though very few commercial assays have been tested on amniotic fluid. Our aim was two investigate the practicability and the value of free thyroxin (FT4), thyrotropin (TSH), 17alpha hydroxyprogesterone (17-OHP) and delta 4 androstenedione (Delta4A) measurement on amniotic fluid using commercially available assays for serum. FT4 and TSH are detectable at low levels in amniotic fluid. FT4 significantly increases from 2.1 pmol/L to 4.2 pmol/L while TSH significantly decreases from 0.27 mU/L to 0.12 mU/L during the second half of pregnancy. An increase in amniotic fluid TSH concentration contributes to the diagnosis of foetal hypothyroidy while the measurement of amniotic fluid FT4 is not informative in case of foetal goiter. 17-OHP and Delta4A are present in amniotic fluid at the same level as in serum. 17-OHP significantly decreases from 1.9 ng/mL to 1 ng/mL during the second half of pregnancy while Delta4A significantly increases from 0.5 ng/mL to 0.8 ng/mL. Absence of increase in their concentrations excludes any severe adrenal hyperplasia.
Asunto(s)
Líquido Amniótico/química , Andrógenos/análisis , Hormonas Tiroideas/sangre , 17-alfa-Hidroxiprogesterona/análisis , Femenino , Bocio/diagnóstico , Bocio/embriología , Humanos , Hipertiroidismo/diagnóstico por imagen , Hipertiroidismo/embriología , Hipotiroidismo/diagnóstico por imagen , Hipotiroidismo/embriología , Masculino , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Valores de Referencia , Reproducibilidad de los Resultados , Tiroxina/análisis , Ultrasonografía PrenatalRESUMEN
OBJECTIVES: To determine whether sonography can be used to distinguish hyperthyroidism from hypothyroidism in pregnancies with fetal goiter. METHODS: This was a retrospective study of 39 cases of fetal goiter. The majority of the mothers had Graves' disease. Fetuses were scanned for the existence of a hypertrophic thyroid gland (goiter) beginning at 22 gestational weeks. Once a goiter was diagnosed, different echographic features were analyzed and the effect of chosen treatment on fetal thyroid development was monitored. RESULTS: On color Doppler, 68.8% of hypothyroid goiters had a peripheral vascular pattern vs. 20% in cases of fetal hyperthyroidism (P = 0.0574). No hypothyroid goiter presented central vascularization whereas half the hyperthyroid goiters did (P = 0.0013). Fetal tachycardia was a good indicator of hyperthyroidism (57.1% v.s 6.3%; P = 0.0055). Delayed bone maturation was seen in hypothyroid goiters (46.9% vs. 0%; P = 0.0307), while advanced bone maturity was specific to hyperthyroid goiters (85.7% vs. 0%; P < 0.0001). Lastly, an increase in fetal movement was observed in cases of fetal hypothyroidism (43.8% vs. 0%; P = 0.0364). CONCLUSION: Based on the color Doppler pattern of goiter, fetal heart rate, bone maturation and fetal mobility, we established an ultrasound score to predict fetal thyroid function in cases of fetal goiter.
Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Bocio/diagnóstico por imagen , Hipertiroidismo/diagnóstico por imagen , Hipotiroidismo/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Enfermedades Fetales/fisiopatología , Movimiento Fetal/fisiología , Bocio/etiología , Bocio/fisiopatología , Frecuencia Cardíaca Fetal/fisiología , Humanos , Hipertiroidismo/complicaciones , Hipertiroidismo/fisiopatología , Hipotiroidismo/complicaciones , Hipotiroidismo/fisiopatología , Osteogénesis/fisiología , Embarazo , Complicaciones del Embarazo , Estudios Retrospectivos , Enfermedades de la Tiroides , Ultrasonografía Doppler en Color/métodos , Ultrasonografía Prenatal/métodosRESUMEN
OBJECTIVE: Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal length. Binder profile results of a hypoplasia of the nasal pyramid (sometimes referred to as maxillonasal dysplasia). We report 8 fetuses prenatally diagnosed as Binder phenotype, and discuss their postnatal diagnoses. METHODS: Ultrasonographic detailed measurements in 2D and 3D were done on the 8 fetuses with Binder profile, and were compared with postnatal phenotype. RESULTS: All fetuses have an association of verticalized nasal bones, abnormal convexity of the maxilla, and some degree of chondrodysplasia punctata. The final diagnoses included fetal warfarin syndrome (one patient), infantile sialic acid storage (one patient), probable Keutel syndrome (one patient), and five unclassifiable types of chondrodysplasia punctata. CONCLUSION: This series demonstrates the heterogeneity of prenatally diagnosed Binder phenotype, and the presence of chondrodysplasia punctata in all cases. An anomaly of vitamin K metabolism, possibly due to environmental factors, is suspected in these mild chondrodysplasia punctata. We recommend considering early prophylactic vitamin K supplementation in every suspected acquired vitamin K deficiency including incoercible vomiting of the pregnancy.
Asunto(s)
Condrodisplasia Punctata/diagnóstico por imagen , Anomalías Maxilofaciales/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Femenino , Humanos , Recién Nacido , Masculino , Fenotipo , Embarazo , Estudios RetrospectivosRESUMEN
Whereas inguinal hernia is a common pediatric disease, fetal inguinal hernia is rarely diagnosed because intra-abdominal pressure usually occurs only after birth. We report a case of prenatal diagnosis of a scrotal mass at 35 weeks' gestation. The initial differential diagnosis included hydrocele, testicular teratoma and testicular torsion, but inguinoscrotal hernia was considered the most likely diagnosis when further ultrasound imaging using a high-frequency probe demonstrated bowel loop movements around the mesenteric artery. This diagnosis was confirmed postnatally.
Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Enfermedades de los Genitales Masculinos/diagnóstico por imagen , Hernia Inguinal/diagnóstico por imagen , Escroto/diagnóstico por imagen , Adulto , Ecocardiografía Doppler en Color/métodos , Femenino , Enfermedades de los Genitales Masculinos/embriología , Hernia Inguinal/embriología , Humanos , Masculino , Embarazo , Tercer Trimestre del Embarazo , Enfermedades Testiculares/diagnóstico por imagen , Ultrasonografía Prenatal/métodosRESUMEN
OBJECTIVES: To compare magnetic resonance imaging (MRI) and fetopathological findings in the evaluation of non-cystic fetal posterior fossa anomalies and to describe associated abnormalities. METHODS: This was a prospective study from 2000 to 2005 of fetuses identified on ultrasound as having sonographic suspicion of posterior fossa malformation. All underwent a thorough MRI examination of the fetal brain, after which we classified each fetus as presenting one of the following pathologies: vermian hypoplasia or agenesis, cerebellar and/or brain stem hypoplasia, destructive or dysplastic lesions. All of the pregnancies were then terminated, after which the whole fetus underwent fetopathological examination. We compared the findings from MRI and fetopathological examinations and recorded the associated cerebral and extracerebral abnormalities. RESULTS: Twenty-five fetuses were included. MRI was performed at a mean gestational age of 31 weeks, and fetopathological examination at 33 weeks. In 12 cases we observed vermian hypoplasia, six had partial vermian agenesis, 11 had cerebellar hemisphere hypoplasia, seven had brain stem hypoplasia, four had destructive lesions and six had dysplastic lesions. The two techniques were similar in their performance with respect to the detection of vermian agenesis, brain stem hypoplasia and destructive lesions. There were four false-positive results of MRI for vermian hypoplasia and a poor agreement regarding cerebellar hemisphere hypoplasia. No dysplastic lesions were diagnosed by MRI. None of the posterior fossa malformations was isolated and many cerebral and extracerebral abnormalities were found. CONCLUSION: A systematic analysis of the posterior fossa in fetal MRI makes it possible to diagnose accurately most posterior fossa malformations. These malformations never occurred in isolation in our study.
Asunto(s)
Encefalopatías/diagnóstico , Fosa Craneal Posterior/anomalías , Enfermedades Fetales/diagnóstico , Imagen por Resonancia Magnética/normas , Ultrasonografía Prenatal/normas , Fosa Craneal Posterior/embriología , Fosa Craneal Posterior/patología , Femenino , Humanos , Embarazo , Estudios ProspectivosRESUMEN
Association between pregnancy and thyroid disorders is a frequent event. In case of maternal hyperthyroidism, strict guidelines relying mainly on foetal thyroid monitoring echographic scanning will allow in most cases the delivery of a healthy euthyroid newborn. Hypothyroidia, providing an adequate substitution has no significant impact on pregnancy, biological monitoring is the key of monitoring. Iodine deficiency is a matter of concern when considering neurodevelopmental outcome, however it is still an unsolved issue in France. However involvement of a multidisciplinary team is of good practice in most of the cases.
Asunto(s)
Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/terapia , Enfermedades de la Tiroides/diagnóstico , Enfermedades de la Tiroides/terapia , Femenino , Humanos , Embarazo , Glándula Tiroides/fisiologíaRESUMEN
Association between thyroidian disease and pregnancy is a frequent event. Thyroidian hormones are mandatory for foetal development especially at the level of brain structures. Any shortage of thyroidian hormone can severely and irreversibly alter neurological development. On the other hand it is also clear that an excess of thyroidian hormone can jeopardize the embryo then the foetus. In case of maternal hyperthyroidism, strict guidelines relying mainly on foetal thyroid monitoring echographic scanning will allow in most cases the delivery of a healthy euthyroid newborn. Hypothyroidia, providing an adequate substitution, has no significant impact on pregnancy. Biological monitoring is the key of monitoring. Iodine deficiency is a matter of concern when considering neurodevelopmental outcome, however it is still an unsolved issue in France. A multidisciplinary team will sometimes be necessary for taking care of pregnant patients with active Graves' disease.
Asunto(s)
Desarrollo Fetal/fisiología , Enfermedad de Graves/complicaciones , Hipotiroidismo/complicaciones , Complicaciones del Embarazo/epidemiología , Enfermedades de la Tiroides/complicaciones , Hormonas Tiroideas/sangre , Adulto , Continuidad de la Atención al Paciente , Femenino , Feto , Humanos , Recién Nacido , Yodo/deficiencia , Embarazo , Complicaciones del Embarazo/sangre , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/prevención & controlRESUMEN
OBJECTIVE: To define the contribution of prenatal investigation and evaluate the prognosis of isolated mild ventriculomegaly (IMV). DESIGN: Retrospective study. SETTING: University hospital between January 1992 and December 2002. POPULATION: One hundred and sixty-seven cases of prenatal unilateral or bilateral IMV without any associated anomaly at the time of initial diagnosis. METHODS: Complementary investigations were performed: amniocentesis with karyotyping, screening for viruses and acetylcholinesterase electrophoresis, magnetic resonance imaging (MRI), and ultrasonography every 3-4 weeks. MAIN OUTCOME MEASURES: Results of prenatal investigations, pregnancy outcome, and postnatal psychomotor development. RESULTS: IMV was diagnosed around 26.5 weeks. Amniocentesis revealed four chromosomal anomalies and two cytomegalovirus infections. MRI diagnosed brain-associated anomalies in 15 cases and ultrasonographic monitoring highlighted malformations not initially diagnosed in 28 cases. Termination of pregnancy (TOP) was considered in 21 pregnancies (12.6%). Indications were aneuploidy, fetal infectious disease or associated malformations. In women for whom a TOP was considered, consanguinity, fetus of female sex and frontal horn enlargement were statistically more frequent, ventriculomegaly was more often bilateral and asymmetrical, atrial width, and the rate of progressive ventricular enlargement were significantly higher. One hundred and one children with prenatal IMV were assessed between 19 and 127 months (mean age 54.68 +/- 2.87 months). Twelve children had neurological disease or psychomotor delay and 89 children had a normal psychomotor development. Poor neurological outcome was more often associated with atrial width greater than or equal to 12 mm, asymmetrical bilateral enlargement, and progression of the ventriculomegaly. CONCLUSION: The detection of IMV raises the question of the child's psychomotor development and justifies meticulous prenatal investigation. In addition to associated anomalies, three criteria are often associated with an unfavourable outcome: atrial width greater than 12 mm, progression of the enlargement, and asymmetrical and bilateral ventriculomegaly.
Asunto(s)
Ventrículos Cerebrales/anomalías , Trastornos Psicomotores/embriología , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Estudios RetrospectivosRESUMEN
OBJECTIVE: To analyze the contribution of fetal magnetic resonance imaging (MRI) and amniotic fluid digestive enzyme (AFDE) assays to the evaluation of gastrointestinal tract abnormalities. METHODS: This was a prospective study involving 24 fetuses suspected of having gastrointestinal tract abnormalities on ultrasound examination. MRI was used to analyze the location of the obstruction, the visibility of the small bowel not involved in the obstruction, and the visibility and size of the colon and rectum. Abnormalities were further evaluated by AFDE assays. The final diagnosis was based on postnatal or fetopathological examination. RESULTS: In duodenojejunal obstructions, MRI (6/6) and AFDE assays (4/4) correctly identified the level of obstruction, but were less accurate for small bowel obstructions (MRI, 10/11; AFDE assays, 7/11). The small bowel not involved in the obstruction was correctly evaluated by MRI as being viable in six cases and as abnormal in eight cases (multiple obstructions or necrosis). However, it was thought antenatally to be abnormal by MRI in four cases in which it was found to be normal on postnatal findings. Three cases in which the colon was found to have abnormal echogenicity were considered normal both by MRI and AFDE assay, in agreement with postnatal findings. Two cases of microcolon-megacystis-intestinal hypoperistalsis syndrome (MMIHS) were diagnosed both by MRI and AFDE assay. Of the three anorectal malformations, two were overlooked by ultrasonography and one by MRI. MRI also overlooked 2/3 associated rectourethral fistulas. CONCLUSION: MRI and enzyme analysis are good complementary tools to ultrasonography for identifying the level of gastrointestinal obstruction and diagnosing MMIHS. MRI can assess the normality of the intestinal tract not involved in the obstruction, but not multiple obstructions, necrosis and small urodigestive fistulas.
Asunto(s)
Líquido Amniótico/enzimología , Pruebas Enzimáticas Clínicas , Feto/anomalías , Tracto Gastrointestinal/anomalías , Imagen por Resonancia Magnética , Femenino , Tracto Gastrointestinal/diagnóstico por imagen , Edad Gestacional , Humanos , Embarazo , Diagnóstico Prenatal , Estudios Prospectivos , Sensibilidad y Especificidad , UltrasonografíaRESUMEN
OBJECTIVE: The justification for magnetic resonance imaging (MRI) in isolated mild ventriculomegaly remains controversial. This study was undertaken to evaluate the contribution of third-trimester MRI in isolated 10- to 12-mm fetal ventriculomegaly. DESIGN: Observational prospective cohort study. SETTING: Universitary prenatal reference centre. POPULATION: From February 2000 to May 2005, we prospectively collected data concerning fetuses referred to us for cerebral MRI following detection of ventriculomegaly by ultrasound scan (n= 310). METHODS: Among these, we identified and analysed those cases in which ventriculomegaly was isolated and did not exceed 12 mm in ultrasound examinations prior to MRI scan (n= 185). MAIN OUTCOME MEASURE: Cases in which MRI provided additional information that was likely to have an impact on prenatal management were detailed. RESULTS: During the study period, 310 MRI were performed because of fetal ventriculomegaly. Hundred and eighty-five were suspected to be isolated 10- to 12-mm ventriculomegalies in ultrasound scan and formed our database. MRI confirmed the 10- to 12-mm isolated fetal ventriculomegaly in 106 cases (57.3%) and found other abnormalities in 5 (4.7%) of these 106 cases. MRI found ventricular measurement to be less than 10 mm in 43 cases (23.3%) and more than 12 mm in 36 cases (19.4%). Among these 36 fetuses with ventricle size more than 12 mm, 6 (16.7%) had other abnormalities, whereas MRI did not find other abnormalities in the 43 cases with ventricle size below 10 mm. CONCLUSION: Before advantages of MRI to ultrasound examination can be demonstrated, it seems reasonable that MRI should remain an investigational tool, restricted to selected clinical situations in which the results are expected to modify case management. Where ultrasound scan suspects isolated ventriculomegaly of 10 to 12 mm, our data suggest that when the finding is confirmed with MRI this could be expected in around 5% of cases. Therefore, the policy of routine MRI in such cases should depend on prenatal centres' priorities.
Asunto(s)
Edema Encefálico/diagnóstico , Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal/métodos , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/normas , Embarazo , Tercer Trimestre del Embarazo , Diagnóstico Prenatal/normas , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: Our objective was to describe the features of prenatal Marfan syndrome. METHODS: Doppler fetal echocardiograms were performed. The morphology and rhythm of the fetal heart were examined sequentially. RESULTS: The case was referred because of cardiomegaly and dilated great vessels. Sequential Doppler echocardiographic evaluation led to the diagnosis of prenatal Marfan syndrome. The main features are cardiomegaly, dysplastic atrioventricular valves with tricuspid regurgitation and dilated great vessels, which can be aneurysmal at their origin. The fetus died in utero at 39 weeks of gestation because of cardiac failure. Pathological study confirmed the Marfan habitus and complications. Molecular genetic study showed a de novo point mutation in exon 26 of the FBN1 gene. CONCLUSION: We report a case of prenatal Marfan syndrome diagnosed by sequential evaluation of the cardiac signs, which are essential for prenatal diagnosis. The prognosis seems as poor as the neonatal one. The prenatal diagnosis is essential for adequate counselling.
Asunto(s)
Ecocardiografía Doppler , Síndrome de Marfan/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adulto , Cardiomegalia/diagnóstico por imagen , Resultado Fatal , Femenino , Muerte Fetal , Corazón Fetal/diagnóstico por imagen , Fibrilina-1 , Fibrilinas , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/patología , Proteínas de Microfilamentos/genética , Mutación Puntual , EmbarazoRESUMEN
OBJECTIVE: Congenital absence of the ductus venosus is a rare anomaly in the fetus. The aim of our study was to evaluate the clinical and ultrasonographic features and outcome of the fetuses with ductus venosus agenesis. STUDY DESIGN: We describe 12 cases in the period between 1992 and 2004. The umbilical vein drained either into the right atrium directly (2 cases) or by the coronary sinus (1 case), or in the inferior vena cava (5 cases), or in the azygos vein (1 case), or in the portal vein (3 cases). Our data where analyzed with the cases published in the literature. Two groups of anastomoses where defined on the basis of the hemodynamic consequences: the group of extrahepatic anastomoses (53 cases) and the group of intrahepatic anastomoses (22 cases). RESULTS: In the group of extra hepatic anastomoses, cardiomegaly was the most common antenatal finding (39%), while in the intra hepatic group hydrops fetalis occurred most frequently (23%). Malformation rate was high in both groups (56% and 45%) and chromosomal anomalies where present in 9% of cases. CONCLUSION: Careful assessment of the umbilical venous return and the ductus venosus should be a part of examination of every fetus with cardiomegaly, polyhydramnios, ascites or hydrops. In case of absence of the ductus venosus a referral scan, a fetal echocardiography and a karyotype should be performed.
Asunto(s)
Diagnóstico Prenatal , Venas Umbilicales/anomalías , Autopsia , Cardiomegalia/etiología , Ecocardiografía , Femenino , Atrios Cardíacos , Humanos , Hidropesía Fetal/etiología , Recién Nacido , Cariotipificación , Masculino , Estudios RetrospectivosRESUMEN
The aim of this study was to investigate outcome at the age of two years for infants without known chromosomal anomalies who presented increased nuchal translucency (NT) at first trimester ultrasound examinations. One hundred fifty-one infants with NT measuring 3mm or more, between 12 and 16 weeks gestation, were followed for at least 24 months. A homogeneous pediatric examination was applied. Among these 151 infants, thirteen (8%) had a major isolated malformation. Five infants (3.3%) had chromosomal anomalies which were unrecognized on fetal karyotype owing to tissue mosaic in two and to cryptic chromosomal anomalies in three. At the age of two years, 16 children (10%) presented psychomotor retardation as part of a genetic syndrome, half of them had an associated cardiac malformation. We did not find any specific ultrasound characteristics which could be used to distinguish fetuses with impaired neurological prognosis. Newborns who presented NT at the first trimester ultrasound examination constitute a high risk population, particularly for psychomotor retardation which is not always recognized during the neonatal period. Careful pediatric follow up is required during childhood.
Asunto(s)
Cuello/anomalías , Ultrasonografía Prenatal , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Cariotipificación , Masculino , Cuello/diagnóstico por imagen , Embarazo , Estudios Prospectivos , Trastornos Psicomotores/epidemiología , Factores de TiempoAsunto(s)
Antiinflamatorios/efectos adversos , Enfermedades Fetales/inducido químicamente , Bocio/inducido químicamente , Intercambio Materno-Fetal , Yoduro de Potasio/efectos adversos , Adulto , Antiinflamatorios/administración & dosificación , Antiinflamatorios/metabolismo , Eritema Nudoso/tratamiento farmacológico , Femenino , Enfermedades Fetales/diagnóstico por imagen , Bocio/diagnóstico por imagen , Humanos , Yoduro de Potasio/administración & dosificación , Yoduro de Potasio/metabolismo , Embarazo , Segundo Trimestre del Embarazo , UltrasonografíaRESUMEN
Congenital left ventricular diverticulum is a rare malformation. We report a case of a ruptured congenital left ventricular diverticulum in a 24-week-old fetus. The fetus was referred for a large and circumferential pericardial effusion confirmed by cross-sectional echocardiography in our tertiary fetal cardiology unit. Pericardiocentesis removed 25 mL of old hematic fluid. The fetus died 5 days later. The pathological examination showed a ruptured submitral fibrous diverticulum of the posterior wall of the left ventricle. There is no previous report in the literature of prenatal rupture of a cardiac diverticulum. The submitral location and the fibrous wall of the diverticulum is uncommon. As regards this case, we reviewed the diagnostic criteria and the outcome of 11 cases of prenatal cardiac diverticulum reported in the literature.