RESUMO
Thirteen fetuses with persistent arrhythmias underwent combined noninvasive echocardiographic evaluation utilizing M-mode, two-dimensional and pulsed Doppler echocardiography. This group (Group A) was compared with 14 fetuses in which only two-dimensional and M-mode echocardiographic evaluations were performed (Group B). In both groups correct prenatal interpretation of the arrhythmia was confirmed by postnatal electrocardiograms in all surviving fetuses. Although Doppler echocardiography was not more sensitive than M-mode echocardiography in the interpretations of the arrhythmia, Doppler tracings of sufficient quality to analyze rate and rhythm were easier to obtain in all cases and provided additional information about valvular incompetence and the functional state of the fetal heart. Cardiac malformations and hydrops fetalis were commonly associated with persistent arrhythmias. Congenital heart disease occurred frequently (6 of 11) with complete atrioventricular (AV) block. Pulsed Doppler echocardiography defined the AV contraction sequence, atrial and ventricular rates and AV valve insufficiency, allowing rapid interpretation of fetal arrhythmias.
Assuntos
Arritmias Cardíacas/diagnóstico , Ecocardiografia , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da GravidezRESUMO
The advent of ultrasound recording has expanded the capabilities for treatment of the fetus in utero. The diagnosis of specific disease processes has allowed for prenatal intervention by new techniques designed to improve fetal survival. The application of ventricular pacing in a hydropic fetus with complete atrioventricular (AV) block is reported. Complete AV block resulted from maternal collagen vascular disease. The application of ventricular pacing was to allow for further in utero development and for reversal of hydrops fetalis after improvement in cardiac output. Despite fetal death 4 hours after placement of the ventricular pacing lead, this procedure when applied earlier in the development of hydrops may allow for fetal survival. Ventricular pacing was accomplished without apparent trauma to mother or fetus and no evidence of fetal injury was seen at necropsy. Therefore, in the fetus who would otherwise die in utero before the point of viability ex utero, fetal ventricular pacing may be a rational alternative to current observation.
Assuntos
Estimulação Cardíaca Artificial , Edema/terapia , Doenças Fetais/complicações , Bloqueio Cardíaco/complicações , Cuidado Pré-Natal , Adulto , Ecocardiografia , Edema/etiologia , Feminino , Bloqueio Cardíaco/diagnóstico , Humanos , GravidezRESUMO
Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1/7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.
Assuntos
Anticorpos Monoclonais , Autoantígenos/análise , Epidermólise Bolhosa/patologia , Imunofluorescência , Diagnóstico Pré-Natal , Adulto , Sítios de Ligação de Anticorpos , Colágeno/análise , Epidermólise Bolhosa/classificação , Epidermólise Bolhosa/genética , Feminino , Humanos , Fenótipo , Gravidez , Diagnóstico Pré-Natal/métodos , Pele/imunologia , Pele/ultraestruturaRESUMO
If the septal component of a nasal injury is adequately managed, usually the entire nasal injury will be well managed. Major or minor nasal trauma can cause cartilage fracture, deviation, dislocation, hematoma, or abscess formation, and the various associated sequelae, some of them life-threatening. A negative x-ray report should never be used as a substitute for a complete intranasal examination in any child with nasal trauma. Any nasal abnormality should be referred for immediate evaluation and treatment.
Assuntos
Septo Nasal/lesões , Criança , Hematoma/etiologia , Hematoma/terapia , Humanos , Masculino , Nariz/anatomia & histologia , Deformidades Adquiridas Nasais/etiologia , Doenças Nasais/etiologia , Doenças Nasais/terapia , Exame FísicoRESUMO
The gray scale ultrasound findings in two children with ectopic ureterocele are presented and correlated with traditional radiographic findings. In one case, the diagnosis was made in utero, utilizing ultrasound. The examination is noninvasive and performed quickly, and it may be able to replace the intravenous pyelogram in the initial evaluation of patients suspected of having such congenital anomalies. Retrograde cystography will still be necessary to detect vesicoureteral reflux.
Assuntos
Ultrassonografia , Ureterocele/diagnóstico , Adulto , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Diagnóstico Pré-Natal , Ureterocele/diagnóstico por imagem , UrografiaRESUMO
We report the first case of hexasomy 12p mosaicism due to 2 copies of an apparent i(12p) [46,XX/48,XX, +i(12p), +i(12p)]. In every cell that contained the i(12p), 2 copies of the marker were found. The hexasomy was found in amniocytes (16%) and skin fibroblasts (95%) but not in peripheral blood lymphocytes. The chromosomal origin of the marker was confirmed with the use of in situ hybridization of alpha-satellite specific for the centromere of chromosome 12. The present case was diagnosed following chromosome analysis for anomalies on ultrasound. The hexasomy 12p patient showed striking phenotypic similarities with severely affected tetrasomy 12p cases and died shortly after birth. We propose that the more severe presentation of this case is due to the 4 extra copies of 12p.
Assuntos
Aneuploidia , Aberrações Cromossômicas/diagnóstico por imagem , Cromossomos Humanos Par 12 , Diagnóstico Pré-Natal , Adulto , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Mosaicismo , Gravidez , UltrassonografiaRESUMO
A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller-Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 17 , Síndrome de DiGeorge/genética , Síndromes de Imunodeficiência/genética , Adulto , Bandeamento Cromossômico , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/patologia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , UltrassonografiaRESUMO
We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, a right-sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X-linked recessive and may overlap with the Smith-Lemli-Opitz syndrome.
Assuntos
Anormalidades Múltiplas/genética , Fissura Palatina/genética , Transtornos do Desenvolvimento Sexual/genética , Cardiopatias Congênitas/genética , Micrognatismo/genética , Adulto , Feminino , Genes Recessivos , Ligação Genética , Humanos , Masculino , Gravidez , Diagnóstico Pré-Natal , Síndrome , Cromossomo XRESUMO
In 1973, Perlman et al described a familial syndrome of bilateral renal hamartomas with or without nephroblastomatosis, macrosomia, islet cell hypertrophy, unusual facies, and early lethality. Two additional sibs were recently reported by Neri et al [1984]. We report on two sibs with polyhydramnios, fetal ascites, and abdominal muscular hypoplasia, visceromegaly, and subsequent development of Wilms tumor in one of them. Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, unusual facial appearance, polyhydramnios, fetal ascites, and Wilms tumor but do not include hemihypertrophy, omphalocele or umbilical abnormalities, aniridia, or other conditions known to be associated with Wilms tumor. This condition should be considered primarily in the differential diagnosis of fetal ascites without hydrops and possibly in the differential diagnosis of familial Wilms tumor, polyhydramnios, congenital hepatomegaly, or nephromegaly.
Assuntos
Neoplasias Renais/genética , Tumor de Wilms/genética , Adulto , Amniocentese , Líquido Ascítico/patologia , Face/anormalidades , Feminino , Doenças Fetais/patologia , Humanos , Recém-Nascido , Rim/patologia , Neoplasias Renais/patologia , Fígado/patologia , Masculino , Nefrectomia , Poli-Hidrâmnios , Gravidez , Síndrome , Tumor de Wilms/patologiaRESUMO
A fetus at 24 weeks' gestation was found to have ascites and abdominal calcifications by ultrasonography. Pathologic examination after prostaglandin termination of pregnancy two weeks later revealed disseminated cytomegalovirus infection with inclusions in the lung, pancreas, kidney, and liver. A mononuclear inflammatory reaction was present in the portal areas of the liver and in the kidney, and gliosis was diffuse in the brain. The liver lesions were of greatest interest because most portal areas had no bile ducts. In other portal areas there was a combination of inclusions in epithelial cells of the few remaining interlobular ducts and intense duct-oriented inflammation. Thus, in fetuses surviving intrauterine cytomegalovirus infection, inflammatory destruction of intrahepatic bile ducts could manifest as chronic cholestasis and paucity of bile ducts later in infancy.
Assuntos
Ductos Biliares Intra-Hepáticos/anormalidades , Colangite/etiologia , Infecções por Citomegalovirus/complicações , Feminino , Doenças Fetais/patologia , Humanos , Fígado/patologia , Masculino , GravidezRESUMO
Cryonecrosis of the upper lobe of the lung and bronchi was safely inudced in healthy dogs by application of the cryoprobe to serosal surfaces or, through a bronchotomy, to the mucosal surfaces under direct vision. Seven days after cryosurgery, hyperemia of the bronchus was seen. By 14 days the bronchus at the target site was covered with cuboidal epithelium. Reappearance of normal ciliated epithelium occurred by 180 days after cryosurgery. Cartilage remained intact, and there was no evidence of formation of a stricture or other gross alteration of bronchial architecture. In the lung there was coagulation necrosis; and by 14 days after cryosurgery, there was fibrosis in the target area. There were no complications of the pleural space. Cryosurgery of tissues at the margins of the bronchotomy does not impair healing. Cryosurgery may reduce the necessity for extensive surgery in selected patients with bronchopulmonary tumors, including those inaccessible to the rigid bronchoscope. Clinically, eight patients with recurrent bronchogenic tumors have received palliation by transbronchoscopic cryosurgery.
Assuntos
Carcinoma Broncogênico/cirurgia , Criocirurgia/normas , Neoplasias Pulmonares/cirurgia , Animais , Cartilagem , Criocirurgia/métodos , Cães , Epitélio , Regeneração , CicatrizaçãoRESUMO
The zone of calcified cartilage (ZCC) forms an important interface between cartilage and bone for transmitting force, attaching cartilage to bone, and limiting diffusion from bone to the deeper layers of cartilage. The height of the ZCC is a relatively constant percent of articular cartilage and the height is maintained by a balance between progression of the tidemark into the unmineralized cartilage and changing into bone by vascular invasion and bony remodeling. During its formation, the cells that form the ZCC have properties similar to the cells of the growth plate. In the adult, the ZCC becomes quiescent but not inactive. The ZCC may be reactivated in osteoarthritis and may progressively calcify the unmineralized cartilage. This might contribute to cartilage thinning which would increase the concentration of forces across the uncalcified cartilage leading to more damage. Although the subchondral bony plate remodels extensively in osteoarthritis, there is little evidence that a change in the biomechanics of the plate directly initiates the osteoarthritic process in cartilage. However, increased repair by endochondral ossification of vertical cracks in the ZCC that penetrate into the marrow space could contribute to progression via changes in the ZCC.
Assuntos
Osso e Ossos/metabolismo , Calcinose/metabolismo , Cartilagem Articular/metabolismo , Osteoartrite/metabolismo , Osteoartrite/patologia , Animais , Cartilagem Articular/patologia , Cães , Fêmur/metabolismo , Fêmur/patologia , Humanos , Metacarpo/metabolismo , Metacarpo/patologia , CoelhosRESUMO
Thirteen intravascular transfusions were performed in 13 human fetuses who were anemic because of severe red-cell alloimmunization. To investigate the status of the umbilical and cerebral circulations by pulsed Doppler ultrasound, we studied the fetal middle cerebral artery (N = 13), internal carotid artery (N = 11), anterior cerebral artery (N = 11), and umbilical artery (N = 13) before, within the first 2 hours after, and the day after intravascular transfusion. The gestational age at the time of transfusion was 21-31 weeks (mean +/- SD 25 +/- 3.1). The fetal hematocrits before transfusion ranged from 12-32% (23.4 +/- 6.1), whereas the hematocrit after transfusion was between 25-42% (35 +/- 5). The net blood volume transfused (volume infused--volume removed) ranged between 7.5-31.0 mL (16.0 +/- 7.4). The hematocrit of the transfused blood varied between 68-81% (74 +/- 4). Repeated-measures analysis of variance indicated significant differences in the pulsatility index values of the four vessels studied. The same analysis indicated significant differences in the pulsatility index values at the three time points. Multiple comparison tests showed that the pulsatility index was reduced significantly immediately after transfusion for each vessel studied, but returned to pretransfusion levels by the next day. These data suggest a change in vascular impedance soon after transfusion as a consequence of direct intravascular transfusion.
Assuntos
Transfusão de Sangue Intrauterina , Artérias Cerebrais/fisiopatologia , Artérias Umbilicais/fisiopatologia , Anemia/etiologia , Anemia/terapia , Velocidade do Fluxo Sanguíneo , Artéria Carótida Interna/fisiopatologia , Feminino , Doenças Fetais/fisiopatologia , Doenças Fetais/terapia , Humanos , Gravidez , UltrassonografiaRESUMO
Placenta percreta is a rare yet serious complication of pregnancy. Only an occasional case has been managed conservatively without hysterectomy. We report a case of placenta percreta managed conservatively at 16 weeks' gestation by oversewing the uterine defect created by the protruding placenta and continuing the pregnancy for an additional eight weeks. The diagnosis of placenta percreta was made again at 26 weeks' gestation by ultrasonography, and a placenta increta to within 1 mm of the serosa was confirmed histologically. This case is added to the five cases of placenta percreta managed by conservative operative therapy.
Assuntos
Placenta Acreta/diagnóstico , Placenta Acreta/cirurgia , Ultrassonografia , Adulto , Feminino , Humanos , GravidezRESUMO
A circumscribed hyperechoic mass in the mid-portion of the left cerebral hemisphere was the presenting ultrasonographic finding in a 30-week fetus. With repeat ultrasound studies, this echo-dense mass became more sonolucent. In addition, there was an increased fluid accumulation and loss of identifiable cerebral cortex over the left parietal and occipital lobes. The patient underwent induction of labor because of progressive intracranial fluid accumulation with subsequent macrocephaly. The infant died on the fourth day of life. At necropsy, an organizing hematoma with admixtures of fresh and moderately degraded old blood was found in the left hemisphere. There was extensive resorption of the underlying cortex, leaving only a fluid-filled cavity with a meningeal covering. We believe the progressive changes that occurred after fetal intracerebral hemorrhage ultimately resulted in hydranencephaly.
Assuntos
Hemorragia Cerebral/complicações , Doenças Fetais , Hidranencefalia/etiologia , Adulto , Hemorragia Cerebral/diagnóstico por imagem , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Hidranencefalia/diagnóstico por imagem , Gravidez , Ultrassonografia Pré-NatalRESUMO
This investigation has reexamined the measurement of the femur length and the use of this measurement as a growth and dating parameter. Straight-line measurements of shaft length were found to be smaller than measurements made along the bone curvature. However, the maximum difference did not exceed 2 mm. Thus, because of its simplicity, use of straight-line measurements appears justified. The optimal (R2 = 96.1%) growth curve model was a linear-quadratic function, with variability around the regression line increasing with menstrual age. The optimal (R2 = 96.8%) dating curve model was a linear-quadratic function in which loge menstrual age is a function of femur length. The variability associated with age estimates increased with femur length. These data were used to construct new standard curves for growth assessment and dating of fetuses using femur length measurements.
Assuntos
Desenvolvimento Embrionário e Fetal , Fêmur/crescimento & desenvolvimento , Idade Gestacional , Menstruação , Cefalometria , Feminino , Humanos , Modelos Biológicos , Gravidez , UltrassonografiaRESUMO
OBJECTIVE: To determine the effects of gestational age and fetal serum indomethacin levels on constriction of the ductus arteriosus after maternal indomethacin administration. METHODS: Twenty-five pregnant Rh-sensitized patients were given a 50-mg oral dose of indomethacin 6 hours before fetal serum indomethacin levels were determined at the time of 50 diagnostic or therapeutic funipunctures. The ductus arteriosus was evaluated with Doppler ultrasound immediately before 40 of the procedures. Constriction of the ductus arteriosus was defined as a peak diastolic flow greater than 35 cm/second. Least-squares regression and multiple regression were used for statistical analysis. RESULTS: The peak diastolic velocity of the fetal ductus arteriosus after maternal indomethacin ingestion was constant at 25 cm/second before 27 weeks, increased between 27-30 weeks to a mean of 39 cm/second, and was stable thereafter (R2 = 0.35; P < .05). There was no significant correlation between constriction of the ductus and fetal serum indomethacin levels (P = .17). CONCLUSIONS: The constrictive effect of maternal indomethacin ingestion on the fetal ductus arteriosus begins as early as 27 weeks' gestation. Constriction of the ductus arteriosus is independent of fetal serum indomethacin levels.
Assuntos
Canal Arterial/efeitos dos fármacos , Sangue Fetal/química , Idade Gestacional , Indometacina/efeitos adversos , Indometacina/sangue , Velocidade do Fluxo Sanguíneo , Constrição Patológica/induzido quimicamente , Diástole , Canal Arterial/diagnóstico por imagem , Canal Arterial/embriologia , Canal Arterial/fisiologia , Feminino , Humanos , Gravidez , Análise de Regressão , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To determine whether fetal anemia secondary to maternal red-cell alloimmunization is associated with thrombocytopenia. METHODS: The records of 78 patients undergoing intrauterine transfusion for red-cell alloimmunization were reviewed. Pre-transfusion fetal platelet counts were compared between hydropic and nonhydropic fetuses. A regression analysis was performed between the fetal platelet counts and the fetal bilirubin levels, hematocrits, and reticulocyte counts taken at the initial transfusion. The hematocrits, reticulocyte counts, and bilirubin levels were adjusted for gestational age by calculating the number of standard deviations (SDs) from the mean for that age or the multiples of the mean (MOM). Student t test, Pearson coefficient, and contingency table randomization test were used to analyze the data. P < .05 was considered significant. RESULTS: Thirty-seven fetuses were hydropic and 41 were nonhydropic. Hydropic fetuses had a significantly lower platelet count than nonhydropic fetuses (197.5 +/- 86.4 versus 252.6 +/- 73.7 x 10(3)/microL; P < .01). Platelet counts correlated negatively with the reticulocyte count MOM (r = -0.652; P < .01) and the hematocrit SDs below the mean (r = -0.659; P < .01), but did not correlate with the bilirubin MOM (r = -0.183; P = .2). CONCLUSION: Hydropic and severely anemic fetuses are at increased risk for thrombocytopenia. We suggest that increased erythropoiesis diverts the hematopoietic stem cell away from thrombopoiesis.
Assuntos
Sangue Fetal , Hidropisia Fetal/sangue , Índice de Gravidade de Doença , Anemia Hemolítica/sangue , Humanos , Contagem de Plaquetas , Estudos RetrospectivosRESUMO
To investigate the effects of indomethacin on the human fetal renal blood flow velocity waveform, 17 fetuses whose mothers were treated for preterm labor (N = 8) or polyhydramnios (N = 9) were studied. There were five growth-retarded fetuses (all in the group with polyhydramnios), 11 normal fetuses, and one fetus with red-cell alloimmunization. The indomethacin dose in all patients was 25 mg orally every 6 hours. The gestational age of the fetuses studied varied between 24-35 weeks (mean +/- SD 29.6 +/- 2.8). The fetal renal artery was studied at its origin from the aorta before and during the first 24 hours of indomethacin therapy. Seven fetuses manifested ductal constriction. Three fetuses also manifested tricuspid regurgitation. All ductal constrictions and the tricuspid regurgitations resolved in utero after discontinuation of indomethacin. There were no significant differences in the pulsatility index values of the renal artery before and during indomethacin therapy. These results suggest that there is no change in fetal renovascular parameters detectable with pulsatility index measurements during the first 24 hours of maternal indomethacin therapy.
Assuntos
Monitorização Fetal , Indometacina/efeitos adversos , Rim/embriologia , Trabalho de Parto Prematuro/tratamento farmacológico , Poli-Hidrâmnios/tratamento farmacológico , Ultrassonografia , Canal Arterial/efeitos dos fármacos , Feminino , Idade Gestacional , Humanos , Indometacina/uso terapêutico , Rim/efeitos dos fármacos , Troca Materno-Fetal , Gravidez , Fluxo Pulsátil , Circulação Renal/efeitos dos fármacos , Insuficiência da Valva Tricúspide/induzido quimicamenteRESUMO
To develop prognostic indicators for those patients diagnosed with twin-twin transfusion before 28 weeks' gestation, we conducted a retrospective analysis of all cases diagnosed at Baylor College of Medicine from January 1985 through April 1989. Twenty-seven cases of twin-twin transfusion were diagnosed by ultrasound; the criteria for diagnosis were polyhydramnios in one amniotic cavity and oligohydramnios in the other cavity. The mean (+/- SD) age at diagnosis was 21.9 +/- 2.9 weeks and the mean age at delivery was 26.8 +/- 4.9 weeks. Gestational age at diagnosis was similar in survivors and non-survivors (21.7 +/- 3.7 versus 22.2 +/- 2.8 weeks; P = .35); however, surviving infants were delivered later in gestation (31.9 +/- 3.5 versus 25.9 +/- 3.4 weeks; P = .000008). The overall survival rate was 21%. Fetal hydrops correlated with poor survival. Amniocentesis for decompression and tocolysis failed to decrease perinatal mortality.