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1.
J Med Ultrason (2001) ; 46(2): 273-275, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30637595

RESUMO

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.


Assuntos
Doenças Fetais/diagnóstico por imagem , Valvas Cardíacas/anormalidades , Persistência do Tronco Arterial/diagnóstico por imagem , Aborto Induzido , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
2.
Cardiovasc Pathol ; 39: 38-50, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30623879

RESUMO

The traditional classification of congenital aortic arch abnormalities was described by James Stewart and colleagues in 1964. Since that time, advances in diagnostic imaging technology have led to better delineation of the vasculature anatomy and the identification of previously unrecognized and unclassified anomalies. In this manuscript, we review the existing literature and propose a series of modifications to the original Stewart classification of congenital aortic arch abnormalities to incorporate this new knowledge. In brief, we propose the following modifications: (1) In Group I, we further divide subgroup B into left arch atretic and right arch atretic; (2) In Group II, we add three more subgroups, including aberrant right innominate artery, "isolated" right innominate artery (RIA), "isolated" right carotid artery with aberrant right subclavian artery; (3) In Groups I, II, and III, we add a subgroup of absence of both ductus arteriosus; and (4) In Group IV, we add three subgroups, including circumflex retro-esophageal aorta arch, persistent V aortic arch, and anomalous origin of pulmonary artery from ascending aorta.


Assuntos
Aorta Torácica/anormalidades , Cardiopatias Congênitas/classificação , Terminologia como Assunto , Malformações Vasculares/classificação , Aorta Torácica/diagnóstico por imagem , Tomada de Decisão Clínica , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/terapia , Humanos , Valor Preditivo dos Testes , Prognóstico , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia
3.
Hemoglobin ; 42(1): 61-64, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29493331

RESUMO

Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - -SEA (Southeast Asian) α-globin gene deletion is the main cause of the Hb Bart's hydrops fetalis in Asia, especially South China. Occasionally, other α0-thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's hydrops fetalis that was caused by - -SEA and a large novel α0-thal deletion (- -GX) (Guangxi). The fetus with Hb Bart's in our study presented fetal hydrops features in early gestation which was different from that of traditional Hb Bart's hydrops fetalis with a homozygous - -SEA deletion. The early onset of fetal hydrops is attributed to the decreased formation of embryonic Hb Portland (ζ2γ2), which is proposed as a candidate for reactivation in cases of severe α-thal. Our findings indicated that it was important to characterize new or rare mutations, and highlighted the significance of using ultrasonography to identify signs of Hb Bart's hydrops fetalis.


Assuntos
Hemoglobinas Anormais , Hidropisia Fetal/etiologia , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Deleção de Sequência , Ultrassonografia , alfa-Globinas/genética , Talassemia alfa/genética
4.
Congenit Heart Dis ; 13(2): 282-287, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29368430

RESUMO

OBJECTIVE: To evaluate the efficacy of using fetal heart size measurements derived from axial echocardiography to predict homozygous α-thalassemia-1. DESIGN: Prospective diagnostic study. SETTING: The carrier rate of α-thalassemia-1 (-/αα) in China's Guangxi Zhuang Autonomous Region is approximately 15%. If both parents are carriers, the risk of homozygous α-thalassemia-1 in one pregnancy is 25%. PATIENTS: Singleton mid-pregnancies at risk of homozygous α-thalassemia-1 were enrolled. OUTCOME MEASURES: Fetal heart measurements, including heart diameter (HD), heart length (HL), heart circumference (HC), and heart area (HA), were measured. The z-scores for these heart parameters were then calculated separately based on previously constructed z-score models. Finally, the accuracy of these predictive variables was analyzed and compared to that achieved by cardiothoracic ratio (CTR) using a receiver operating characteristic (ROC) curves analysis. RESULTS: A total of 214 singleton pregnancies were recruited. The discriminatory power of HA and HD z-scores was better (z-test P< .01) while that of HC and HL z-scores was comparable to (z-test P>.05) that of CTR. HD combined with HA z-scores had the highest sensitivity (100%), and the specificity of HD and/or HA z-scores was 100%. CONCLUSION: Fetal heart size measurements are novel, effective and noninvasive predictors of homozygosity for α-thalassemia-1 in mid-pregnancy. The discriminatory power of HD and HA z-scores was better than while that of HC and HL z-scores was comparable to that of CTR. Further investigation is needed to understand the effectiveness of these predictors.


Assuntos
Ecocardiografia/métodos , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico , Complicações Hematológicas na Gravidez , Ultrassonografia Pré-Natal/métodos , Talassemia alfa/epidemiologia , China/epidemiologia , Feminino , Idade Gestacional , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/epidemiologia , Homozigoto , Humanos , Tamanho do Órgão , Gravidez , Prevalência , Estudos Prospectivos , Curva ROC
5.
J Med Ultrason (2001) ; 45(2): 341-344, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28752252

RESUMO

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence.


Assuntos
Defeitos dos Septos Cardíacos/diagnóstico por imagem , Atresia Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Ecocardiografia Doppler em Cores , Feminino , Humanos , Gravidez
6.
Clin Toxicol (Phila) ; 56(2): 132-139, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28705031

RESUMO

CONTEXT: Several studies have investigated the association between heavy metal exposure and congenital heart defects (CHDs). However, there are limited data regarding the relationship between barium exposure and the occurrence of CHDs. The objective of this study was to analyze the association between barium exposure in mothers and the risk of CHD in offspring. MATERIALS AND METHODS: We developed a case-control study with 399 cases and 490 controls with normal live births in China. The concentrations of barium in hair of pregnant woman and fetal placenta were measured. We used a logistic regression analysis to explore the association between barium exposure and the risk of CHD. RESULTS: Logistic regression analysis indicated that the median concentration of barium in maternal hair in the CHD group was 4.180 ng/mg (adjusted odds ratio [aOR], 1.230; 95% confidence interval [CI], 1.146-1.321; p < .001), which was significantly higher than that in the control group (2.740 ng/mg). Furthermore, the median concentration of barium in fetal placental tissue in the CHD group was 0.617 ng/mg, while that in the control group was 0.447 ng/mg (aOR, 1.392; 95% CI, 1.074-1.659; p = .003). Significant differences in the concentration of barium in hair were also found between the different CHD subtypes and the controls. These differences were found in cases with septal defects (p < .001), conotruncal defects (p < .001), right ventricular outflow track obstruction (p < .001), left ventricular outflow track obstruction (p < .001), and anomalous pulmonary venous return (p = .010). Significantly different barium concentrations in fetal tissue were only found in cases with septal defects (p = .010). CONCLUSIONS: Maternal barium exposure was dose-dependently related to the risk of CHD in the offspring. Our findings suggest that the occurrence of some subtypes of CHD is associated with barium exposure.


Assuntos
Bário/envenenamento , Cardiopatias Congênitas/induzido quimicamente , Cardiopatias Congênitas/epidemiologia , Adulto , Bário/análise , Estudos de Casos e Controles , China/epidemiologia , Relação Dose-Resposta a Droga , Feminino , Cabelo/química , Defeitos dos Septos Cardíacos/induzido quimicamente , Defeitos dos Septos Cardíacos/epidemiologia , Humanos , Recém-Nascido , Exposição Materna , Placenta/química , Gravidez , Diagnóstico Pré-Natal , Efeitos Tardios da Exposição Pré-Natal , Fatores de Risco , Adulto Jovem
7.
AJP Rep ; 7(2): e111-e115, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28611934

RESUMO

Objective This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5.2%). After 20 weeks' gestation, a total of 408 cases of NIHF presented, including Hb Bart's disease (279 cases), cardiac abnormalities (27 cases), and infection (7 cases). NIHF caused by chromosomal abnormalities mainly presented between 15 and 19 weeks' gestation. Of the 482 cases, 459 cases elected termination of pregnancy. The remaining 23 cases elected to continue their pregnancy. Among them, 14 (60.9%) resulted in intrauterine fetal death, 6 had neonatal death, 3 infants survived to 1 year of age. Of the three infants, one has cerebral palsy, and the remaining two are normal. Conclusions Hb Bart's disease is the most common cause of NIHF in Southern China. An effective prenatal screening and counseling program for thalassemia in this region may be the most effective way to lower the incidence NIHF.

8.
Chin Med J (Engl) ; 130(8): 920-928, 2017 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-28397721

RESUMO

BACKGROUND: Fetal brain development is a complicated process that continues throughout pregnancy. Fetal sulcus development has typical morphological features. Assessment of fetal sulcus development to understand the cortical maturation and development by prenatal ultrasound has become widespread. This study aimed to explore a reliable method to assess cortical sulcus and to describe the normal sonographic features of cortical sulcus development in the human fetus between 18 and 41 weeks of gestation. METHODS: A cross-sectional study was designed to examine the fetal cortical sulcus development at 18-41 weeks of gestation. Ultrasound was used to examine the insula, sylvian fissure (SF), parieto-occipital fissure (POF), and calcarine fissure (CF). Bland-Altman plots were used for assessing the concordance, and the intraclass correlation coefficient was used for assessing the reliability. RESULTS: SF images were successfully obtained in 100% of participants at 22 weeks of gestation, while the POF images and CF images could be obtained in 100% at 23 weeks of gestation and 24 weeks of gestation, respectively. The SF width, temporal lobe depth, POF depth, and the CF depth increased with the developed gestation. The width of uncovered insula and the POF angle decreased with the developed gestation. By 23 weeks of gestation, the insula was beginning to be covered. Moreover, it completed at 35 weeks of gestation. The intra- and inter-observer agreements showed consistent reproducibility. CONCLUSIONS: This study defined standard views of the fetal sulcus as well as the normal reference ranges of these sulcus measurements between 18 and 41 weeks of gestation. Such ultrasonographic measurements could be used to identify fetuses at risk of fetal neurological structural disorders.


Assuntos
Encéfalo/embriologia , Desenvolvimento Fetal/fisiologia , Feto/embriologia , Ultrassonografia Pré-Natal/métodos , Adulto , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Gravidez
9.
J Med Ultrason (2001) ; 44(4): 281-287, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28224306

RESUMO

OBJECTIVE: To evaluate the accuracy of oblique view extended imaging (OVEI) in locating the position of the fetal conus medullaris. METHODS: One hundred and twenty-two normal fetuses and five counterparts with spinal bifida received prenatal ultrasound examination. The vertebral body at the terminal of the conus medullaris and the coronal section of over five vertebral bodies were reconstructed using OVEI. Development of the nervous system of normal fetuses was assessed at postnatal day 28. For spinal bifida cases, pathological examination was performed. RESULTS: Among 127 fetuses, the conus medullaris was accurately positioned in 120 (94.0%) cases according to OVEI. OVEI failed to locate the conus medullaris in three healthy fetuses due to obesity of the mother and four cases with spinal bifida due to abnormal fetal position. The conus medullaris was located at L3 or above in 115 healthy fetuses. The conus medullaris was positioned below L4 in five fetuses with spinal bifida, including L5 in two, S1 in two, and S3 in one, which was consistent with the findings of pathological examination. CONCLUSIONS: OVEI can display the 12th rib, T12, and conus medullaris simultaneously. OVEI is applicable to precisely locate the position of the conus medullaris and useful for prenatal evaluation of spinal bifida.


Assuntos
Medula Espinal/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Idade Gestacional , Humanos , Gravidez , Disrafismo Espinal/diagnóstico por imagem , Ultrassonografia Doppler em Cores
10.
Echocardiography ; 33(10): 1611-1613, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27779342

RESUMO

We report a case in which Berry syndrome is diagnosed by fetal echocardiography. Fetal echocardiography showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were presented as a vascular complexity in the three vessels and pulmonary arterial branches view.


Assuntos
Aorta Torácica/anormalidades , Aorta Torácica/diagnóstico por imagem , Ecocardiografia/métodos , Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Diagnóstico Diferencial , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Síndrome
12.
Reprod Toxicol ; 59: 109-16, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26743994

RESUMO

Hair arsenic and cadmium from 339 women with congenital heart defect (CHD)-affected pregnancies (case women) and 333 women with normal live births (control women) in China were estimated using inductively coupled plasma mass spectrometry. The median levels of hair arsenic and cadmium in the case women were 98.30 (74.30-136.30)ng/g and 14.60 (8.30-32.50)ng/g, respectively, which were significantly higher than the levels in the control group (P<0.05). Arsenic concentrations ≥62.03ng/g were associated with increased risk for almost every CHD subtype, with a dose-response relationship. However, only the group with the highest cadmium levels (≥25.85ng/g) displayed an increased risk of CHDs (AOR 1.96; 95% CI 1.24-3.09), with a 2.81-fold increase found for the occurrence of conotruncal defects in their offspring. Furthermore, an interaction between arsenic and cadmium was observed. Our findings suggest that maternal exposure to arsenic and cadmium may be a significant risk factor for CHDs in offspring. Cadmium may have an enhancing effect on the association between arsenic and the risk of CHDs in offspring.


Assuntos
Arsênico/efeitos adversos , Arsênico/análise , Cádmio/efeitos adversos , Cádmio/análise , Poluentes Ambientais/efeitos adversos , Poluentes Ambientais/análise , Cabelo/química , Cardiopatias Congênitas/induzido quimicamente , Exposição Materna/efeitos adversos , Adulto , Estudos de Casos e Controles , China , Relação Dose-Resposta a Droga , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Espectrometria de Massas/métodos , Gravidez , Medição de Risco , Fatores de Risco , Adulto Jovem
13.
Birth Defects Res A Clin Mol Teratol ; 106(2): 95-103, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26707789

RESUMO

BACKGROUND: Aluminum (Al) is the third most common element in the earth' s crust and has been reported to be teratogenic. However, there is lack of understanding about the association between maternal aluminum exposure and the risks of birth defects such as congenital heart defects (CHDs). METHODS: A multi-center, hospital-based case-control study was performed at four maternal and child tertiary hospitals in China. A total of 223 cases with CHDs and 223 controls without any abnormalities were recruited according to the inclusion and matching criteria. Hair samples were prepared and measured by inductively coupled plasma mass spectrometry (ICP-MS). The correlation between CHDs and maternal aluminum concentrations was estimated by a 1:1 conditional logistic regression. RESULTS: The geometric mean and median of hair aluminum levels in isolated or multiple CHD cases was significantly higher than in controls (p < 0.05). A significant association was found between increased hair aluminum concentrations and the risk of total CHDs in offspring (adjusted odds ration [aOR], 2.32; 95% confidence interval [CI], 1.72-3.13), especially in some subtypes of CHDs, such as septal defects (aOR, 2.17; 95% CI, 1.15-4.10), conotruncal defects (aOR, 5.42; 95%CI, 2.43-12.10), and right ventricular outflow track obstruction (aOR, 2.43; 95% CI, 1.08-5.44). However, there was no statistically significant association with left ventricular outflow track obstruction (aOR, 1.66; 95% CI, 0.95-2.88). CONCLUSION: A high maternal aluminum concentration may significantly increase the risk of delivering a child with a CHD, such as a septal defect, conotruncal heart defect and right-side obstruction.


Assuntos
Alumínio/efeitos adversos , Cabelo/química , Cardiopatias Congênitas/induzido quimicamente , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal , Adulto , Biomarcadores/análise , Estudos de Casos e Controles , China/epidemiologia , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Espectrometria de Massas , Gravidez , Fatores de Risco , Inquéritos e Questionários
14.
Prenat Diagn ; 36(2): 117-26, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26573084

RESUMO

OBJECTIVE: We aim to determine the accuracy of first-trimester ultrasonography in detecting fetal limb abnormalities. METHODS: This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary-care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy. RESULTS: Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester (n = 12), followed by clubfoot (n = 4), skeletal dysplasia (n = 3), sirenomelia (n = 1), limb dysplasia (n = 1), malposition (n = 1), and syndactyly (n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT. CONCLUSIONS: This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation.


Assuntos
Deformidades Congênitas dos Membros/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , China , Pé Torto Equinovaro/diagnóstico por imagem , Ectromelia/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade , Medição da Translucência Nucal , Gravidez , Estudos Retrospectivos , Sensibilidade e Especificidade , Sindactilia , Centros de Atenção Terciária , Adulto Jovem
15.
Sci Rep ; 5: 14915, 2015 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-26456689

RESUMO

Congenital heart defects (CHDs) arise through various combinations of genetic and environmental factors. Our study explores how polymorphisms in the glutathione S-transferase (GST) genes affect the association between cigarette smoke exposure and CHDs. We analysed 299 mothers of children with CHDs and 284 mothers of children without any abnormalities who were recruited from six hospitals. The hair nicotine concentration (HNC) was used to quantify maternal smoke exposure, and the maternal GSTT1, and GSTM1 and GSTP1 genes were sequenced. We found a trend of higher adjusted odds ratios with higher maternal HNC levels, suggesting a dose-response relationship between maternal smoke exposure and CHDs. The lowest HNC range associated with an increased risk of CHDs was 0.213-0.319 ng/mg among the mothers with functional deletions of GSTM1 or GSTT1and 0.319-0.573 ng/mg among the mothers with normal copies of GSTM1 and GSTT1. In addition, the adjusted odds ratio for an HNC of >0.573 ng/mg was 38.53 among the mothers with the GSTP1 AG or GG genotype, which was 7.76 (χ(2) = 6.702, p = 0.010) times greater than the AOR in the mothers with GSTP1 AA genotype. Our study suggests that polymorphisms of maternal GST genes may modify the association of maternal smoke exposure with CHDs.


Assuntos
Glutationa S-Transferase pi/genética , Glutationa Transferase/genética , Cardiopatias Congênitas/genética , Exposição Materna/efeitos adversos , Polimorfismo Genético , Fumar/efeitos adversos , Adulto , Relação Dose-Resposta a Droga , Feminino , Expressão Gênica , Predisposição Genética para Doença , Genótipo , Cabelo/química , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/patologia , Humanos , Recém-Nascido , Masculino , Nicotina/análise , Razão de Chances , Gravidez , Efeitos Tardios da Exposição Pré-Natal/genética , Efeitos Tardios da Exposição Pré-Natal/patologia
16.
Hemoglobin ; 39(3): 216-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25897478

RESUMO

Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. Here, we describe one case with Hb H/Hb CS disease that presented with fetal anemia and fetal hydrops, known as Hb H (ß4) hydrops fetalis. This is the first report of fetal hydrops caused by association of the - -(SEA) deletion and the α(CS)α mutation. Our study highlights the significance of watchful observation using a serial ultrasound method and care of pregnant women who have fetuses found to carry Hb H/Hb CS disease during pregnancy, to guard against the occurrence of fetal hydrops.


Assuntos
Hemoglobina H/genética , Hemoglobinas Anormais/genética , Hidropisia Fetal/etiologia , Mutação Puntual , Deleção de Sequência , Talassemia alfa/complicações , Talassemia alfa/genética , Adulto , China , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Análise Mutacional de DNA , Índices de Eritrócitos , Feminino , Genótipo , Humanos , Hidropisia Fetal/diagnóstico , Masculino , Gravidez , Talassemia alfa/diagnóstico
17.
J Ultrasound Med ; 34(2): 197-206, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25614392

RESUMO

α-Thalassemia prevails in Southeast Asia, where α-thalassemia major is a lethal type. Sonography is a helpful and cost-effective screening tool for detecting α-thalassemia major fetuses. The cardiothoracic ratio, placental thickness, and middle cerebral artery peak systolic velocity are most used in clinical practice. These sensitive markers are helpful for evaluation of the hemodynamic status and cardiovascular function of the affected fetuses. They can predict fetal α-thalassemia major and assess the efficacy of treatment noninvasively; therefore, the medical costs as well as the possibility of fetal loss caused by invasive procedures can be reduced. Other potentially useful sonographic markers need further studies, although previous preliminary research suggests their usefulness. This article will review those sonographic markers.


Assuntos
Ultrassonografia Pré-Natal/métodos , Talassemia alfa/diagnóstico por imagem , Talassemia alfa/embriologia , Biomarcadores , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Artéria Cerebral Média/diagnóstico por imagem , Placenta/diagnóstico por imagem , Gravidez
18.
J Clin Ultrasound ; 43(6): 375-83, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25110859

RESUMO

OBJECTIVE: To describe changes in the Doppler waveforms of the fetal main pulmonary artery (MPA) throughout gestation and to assess their predictive value of neonatal respiratory distress syndrome (RDS). STUDY DESIGN: In the first phase of this study, we performed Doppler measurement of MPA acceleration time (AT), ejection time (ET), peak systolic velocity, end-diastolic velocity, mean velocity, pulsatility index, and resistance index in 288 healthy fetuses. In the second phase, we carried out these measurements in a prospective cohort of 52 pregnant women with impending preterm birth. RESULTS: In phase I, satisfactory fetal MPA Doppler recordings were collected in 284 of 288 (98.6%) normal fetuses. Significant and positive linear correlations were found between gestational age and AT, AT/ET ratio, peak systolic velocity, and mean velocity (p < 0.01), with the strongest correlations concerning AT (r = 0.898) and AT/ET ratio (r = 0.868). In phase II, satisfactory fetal MPA Doppler waveforms were obtained in 43 of 44 (97.7%) fetuses. Of these, 14 (32.6%) developed RDS and 29 did not. Using less than or equal to the fifth percentile as a gestational age-specific cutoff, AT alone could predict RDS with a sensitivity of 78.6% and a specificity of 89.7%. The AT/ET ratio could predict RDS with 71.4% sensitivity and 93.1% specificity. CONCLUSIONS: Fetal MPA Doppler velocimetry can reliably be obtained throughout gestation. AT and AT/ET ratios of the fetal MPA Doppler waveform may help identifying fetuses at risk of developing neonatal RDS.


Assuntos
Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/embriologia , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Adulto , Velocidade do Fluxo Sanguíneo , Estudos de Coortes , Feminino , Feto , Idade Gestacional , Humanos , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
19.
Prenat Diagn ; 35(2): 103-7, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25201035

RESUMO

OBJECTIVE: To describe the incidence, prenatal diagnosis, and perinatal outcome in fetuses with congenital dacryocystocele. METHODS: All cases of congenital dacryocystocele diagnosed by prenatal ultrasound were identified using an established perinatal database. Prenatal ultrasound images were reviewed, and perinatal outcome was abstracted from the medical records. The correlation between the cyst size, gestational age, and prenatal and neonatal outcome was analyzed. RESULTS: The overall incidence of fetal dacryocystocele was 0.016% (75/456,202). Fifty-three cases (70.7%) had unilateral, and 22 (29.3%) had bilateral lesions. Lesions were seen more commonly among female fetuses with a female : male ratio 1.48 : 1. The average diameter of cysts size was 6.9 ± 1.9 mm (3.3-11 mm). There was a direct correlation between cyst size and gestational age. Among the 75 cases, 8 were lost to follow-up, 3 underwent elective termination of pregnancy. 58 resolved spontaneously before birth, and 6 were confirmed at birth. Two developed neonatal infection requiring antibiotic treatment. All 6 cases confirmed at birth resolved without surgical resection. CONCLUSIONS: Congenital dacryocystocele can be diagnosed by prenatal ultrasound. Such lesions typically resolve spontaneously in utero or in the early neonatal period. Thus, it should be considered as a developmental variant rather than a structural birth defect.


Assuntos
Cistos/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Obstrução dos Ductos Lacrimais/complicações , Adulto , China/epidemiologia , Cistos/congênito , Cistos/epidemiologia , Feminino , Doenças Fetais/epidemiologia , Doenças Fetais/etiologia , Humanos , Incidência , Obstrução dos Ductos Lacrimais/congênito , Obstrução dos Ductos Lacrimais/epidemiologia , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Adulto Jovem
20.
Prenat Diagn ; 35(2): 117-24, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25233926

RESUMO

OBJECTIVE: To construct Z-score reference ranges for normal fetal heart sizes throughout pregnancy. METHODS: This is a prospective cross-sectional investigation of 809 normal singleton fetuses from 11th week to term. Fetal transverse heart diameter (HD), heart length (HL), heart circumference (HC) and heart area (HA) were derived from two-dimensional echocardiography. The regression analyses of the mean (M) and the standard deviation (SD) for each parameter were calculated separately, using fetal somatic sizes as independent variables. A group of fetal heart diseases was assessed using these parameters. RESULTS: Strong correlations were found between fetal heart sizes and somatic sizes. Linear-cubic regression equations were each fitted to the models of the means of the heart sizes, whereas linear-quadratic equations were fitted to the models of the SDs. HD was the dependent variable that provided the highest correlation coefficient with all of the fetal sizes, followed by HL, HC and HA. All fetuses with Ebstein's anomaly and most with homozygous α-thalassemia-1 demonstrated Z-scores reflective of increased heart sizes. CONCLUSION: The calculation of Z-scores for heart sizes as a function of fetal somatic size is simple and may be useful for quantitative assessment of some cardiac diseases, particularly cardiomegaly caused by homozygous α-thalassemia-1.


Assuntos
Ecocardiografia , Coração Fetal/diagnóstico por imagem , Adolescente , Adulto , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Gravidez , Estudos Prospectivos , Valores de Referência , Ultrassonografia Pré-Natal , Adulto Jovem
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