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1.
Front Cardiovasc Med ; 11: 1341005, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38510199

RESUMO

Objective: This study aimed to assess the diagnostic value of prenatal echocardiography for identifying transposition of the great arteries (TGA) during pregnancy and evaluating the associated outcomes. Methods: We conducted a retrospective analysis of 121 prenatally diagnosed patients with TGA at our hospital between January 2012 and September 2022. This analysis included prenatal ultrasound, prenatal screening, clinical management and follow-up procedures. Results: Among the 103 fetuses considered in the study, 90 (87.4%) were diagnosed with complete transposition of the great arteries (D-TGA), while 13 (12.6%) exhibited corrected transposition of the great arteries (CC-TGA). Diagnoses were distributed across the trimester, with 8 D-TGA and 2 CC-TGA patients identified in the first trimester, 68 D-TGA patients and 9 CC-TGA patients in the second trimester, and 14 D-TGA and 2 CC-TGA patients referred for diagnosis in the third trimester. Induction of labour was pursued for 76 D-TGA patients (84.4%) and 11 CC-TGA patients (84.6%), and 14 D-TGA patients (15.6%) and 2 CC-TGA patients (15.4%) continued pregnancy until delivery. Among the D-TGA patients, 9 fetuses (10.0%) underwent surgery, two of which were inadvertent fatality, while the remaining seven experienced positive outcomes. Additionally, seven TGA patients received palliative care, leading to four fatalities among D-TGA patients (5.2%), whereas 1 D-TGA patients and 2 CC-TGA patients survived. Conclusion: This study underscores the feasibility of achieving an accurate prenatal diagnosis of TGA during early pregnancy. The utility of prenatal ultrasound in the development of personalized perinatal plans and the application of multidisciplinary treatment during delivery are conducive.

2.
Front Cardiovasc Med ; 11: 1340271, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38433754

RESUMO

Objective: The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis. Methods: We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules. Results: Our study included 54 fetuses with CR: 32 pregnancies were terminated, 22 were delivered, 35 were diagnosed with TSC, 13 had simple CR without TSC, and in 6 cases, remained unclear whether TSC accompanied the CR due to insufficient evidence. 45 fetuses (83.3%) had multiple lesions, while 9 fetuses (16.7%) presented with a single lesion. Twelve cases had intracardiac complications, all associated with multiple lesions, and these cases exhibited larger maximum tumor diameters than the non-complicated group. Multiple intracardiac lesions were more prevalent in the TSC group than in the simple CR group. However, there was no significant difference in maximum tumor diameter between the two groups. Among 30 fetuses who underwent fetal brain MRI, 23 were eventually diagnosed with TSC, with 11 fetuses showing intracranial sclerosis nodules by ultrasound and 15 by MRI, and the diagnostic consistency was moderate (k = 0.60). Twenty-two fetuses were born and followed up for 6-36 months. CR lesions diminished or disappeared in 18 infants (81.8%), while they remained unchanged in 4 infants (18.2%). Ten out of 12 (83.3%) surviving children diagnosed with TSC developed epilepsy, and 7 (58.3%) had neurodevelopmental dysfunction. Conclusions: The majority of CR cases involve multiple lesions, which are a primary risk factor for TSC. Through prenatal ultrasound examination is crucial for assessing fetal CR prognosis. Although ultrasound combined with MRI can detect intracranial sclerosis nodules in TSC fetuses, its sensitivity is limited. TSC gene sequencing is an essential diagnostic method. Simple CR cases without TSC generally have a favorable prognosis.

3.
Front Cardiovasc Med ; 10: 1206042, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37692039

RESUMO

Objective: The objective of the study is to explore the value of the four-section approach in detecting fetal heart defects in the first trimester (11-13+6 weeks), analyze the reasons for the inconsistency between the results of ultrasound examination in the first trimester and subsequent verification, and describe the most common abnormal flow patterns of four sections. Materials and methods: Between June 2019 and June 2021, a prenatal four-section approach (upper abdominal transverse section, four-chamber section, three vessel-trachea section, and bilateral subclavian artery section) with verification results in early pregnancy was analyzed. Results: In total, 9,533 fetuses were included. Finally, 176 fetuses with congenital heart disease (CHD), containing 34 types, were identified. The total detection rate of cardiac abnormalities was 1.85%. 102 cases were accurately diagnosed by ultrasonography during early pregnancy. A total of 74 fetuses who had inconsistent results between fetal cardiac ultrasound and verification in early pregnancy were reported, of which the cases of 22 fetuses were inconsistent due to disease evolution and progression and the cases of 52 fetuses were inconsistent due to missed diagnosis and misdiagnosis. The sensitivity, specificity, positive predictive value, and negative predictive value of the four-section approach were 67.05%, 99.96%, 96.58%, and 99.33%, respectively. In this study, a total of 30 abnormal ultrasonic imaging patterns in four sections were summarized. Conclusion: We confirmed that the four-section approach in early pregnancy has a good diagnostic efficacy for fetal CHD. Intrauterine evolution of the fetal heart, missed diagnosis, and misdiagnosis are the reasons for the inconsistency between the results of early pregnancy ultrasound and subsequent verification. This study also presents the abnormal imaging patterns of four scan sections of CHD in early pregnancy, which are instructive for the rapid identification and diagnosis of CHD in the first trimester.

4.
Front Pediatr ; 11: 1204070, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37456564

RESUMO

Objectives: This study aims to investigate the efficacy of prenatal ultrasonography in diagnosing the anomalous origin of the fetal pulmonary artery (AOFPA). Methods: A total of 26 AOFPA cases were retrospectively analyzed from January 2014 to January 2023. The features of the AOFPA were characterized by comparing the prenatal ultrasonic data with the results of anatomical casting after pregnancy termination or postnatal imaging and surgical intervention. Missed diagnoses and misdiagnoses were expounded. Results: Of the 26 AOFPA cases, there were 13 cases of pulmonary artery sling, 8 cases of anomalous origin of the unilateral pulmonary artery, and five cases of unilateral absence of the pulmonary artery; 17 cases received pathological anatomy and casting after pregnancy termination, and nine cases were confirmed by postnatal imaging and surgery. Nineteen cases were accurately prenatally diagnosed (19/26, 73.1%), and seven cases were missed or misdiagnosed (7/26, 26.9%). Conclusions: Prenatal ultrasonography has a favorable diagnostic efficacy for anomalous origin of the fetal pulmonary artery. The absence of either the left or right pulmonary artery from the image of pulmonary artery bifurcation may indicate origin abnormalities of the pulmonary artery in fetuses, which signifies the necessity to detect the abnormal origin of the pulmonary artery on the affected side and other potential intracardiac malformation complications.

5.
Front Cardiovasc Med ; 10: 1195191, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37485264

RESUMO

Background: To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification. Methods: The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery. Results: Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage. Fetal RI reported typical malformations of gastric vesicles on different sides from the heart, juxtaposition of the IVC with AO, anomalous pulmonary venous connection (APVC), asplenia, and bilateral right atrial appendages; intracardiac malformations of AVSD, SA, single ventricle, pulmonary atresia and stenosis, and DORV. The postnatal verification revealed 3 malformations misdiagnoses and 4 malformations missed diagnoses in LI fetuses and 10 misdiagnoses and 8 missed diagnoses in RI fetuses. Conclusions: The proposed five-step prenatal ultrasonography has an important diagnostic value for the identification and classification of heterotaxy syndrome. The different sides of gastric vesicles and cardiac apex are important diagnostic clues for heterotaxy syndrome, featuring disconnected or hypoplastic IVC, typical complex cardiac malformation, and atrioventricular block in fetal LI, and shown APVC, juxtaposition of IVC and AO, and intracardiac malformations such as AVSD, DORV, and LVOTO in fetal RI.

6.
Front Pediatr ; 11: 1206032, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37351315

RESUMO

Objective: To systematically verify the accuracy of a four-step prenatal ultrasonography in diagnosing fetal total anomalous pulmonary venous connection (TAPVC). Methods: A total of 62 TAPVC fetuses received prenatal ultrasonography and were confirmed by postnatal echocardiography, surgery, or postabortion autopsy. The suspected TAPVC fetuses were further screened by a four-step prenatal ultrasonography for TAPVC classification, pulmonary venous obstruction, and the associated malformations, and followed postpartum. The sonographic features, clinical data, and prognosis of the TAPVC fetuses were retrospectively analyzed. Results: Of the 62 TAPVC fetuses, supracardiac TAPVC was found in 20 cases, intracardiac TAPVC in 12, infracardiac TAPVC in 21, and mixed TAPVC in 9. A total of 30 cases with right atrium isomerism were correctly diagnosed. Of the 11 cases with other intracardiac and extracardiac malformations, 1 case was missed to be diagnosed. Of the 21 isolated TAPVC cases, 6 were missed prenatally and 1 case was prenatally diagnosed as intracardiac and postnatally proved to be mixed (intracardiac type + supracardiac type) by echocardiography. Of the 13 TAPVC live births, 4 infants died in the neonatal period without operation. Of the nine infants undergoing the operation, five recuperated and survived; one survived but had complications with superior vena cava obstruction and collateral circulation formation, and three died postoperatively. Conclusion: The four-step prenatal ultrasound procedure can comprehensively and systematically evaluate fetal TAPVC, detailing the classification, potential obstruction, and associated malformations. It provides substantial support for subsequent prenatal counseling and neonatal assessment. The retrospective analysis also reveals that isolated TAPVC is more prone to be missed in diagnosis.

7.
Front Public Health ; 10: 973125, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36388297

RESUMO

Background: Biliary atresia (BA) is a severe inflammatory obliterative cholangiopathy of infancy that requires early diagnosis and prompt surgical intervention. In this study, we aimed to obtain comprehensive evidence on the diagnostic performance of liver stiffness measurement by ultrasound elastography in the detection of BA through a meta-analysis. Methods: The PubMed, EMBASE, Cochrane Library, and Web of Science databases were searched for studies that investigated the diagnostic performance of ultrasound elastography in the detection of BA up to January 10, 2022. In this study, in order to summarize the diagnostic performance of ultrasound elastography, the summary receiver operating characteristic (SROC) modeling was constructed. Heterogeneity was estimated with the I 2 statistic. Multiple subgroup analyses were also performed. Results: Fourteen studies from eleven articles, including 774 BA patients, 850 non-BA patients, and 173 controls were included in the present meta-analysis. The summary sensitivity and specificity of ultrasound elastography for liver stiffness were 85% [95% confidence interval (CI): 79-89%] and 82% (95% CI: 73-88%) with the I 2 value of 82.90 and 84.33%, respectively. The area under the SROC curve (AUROC) using ultrasound elastography for diagnosing BA was 0.90 (95% CI: 0.87-0.92). In addition, a subgroup analysis of 9 two-dimensional shear wave elastography studies was also performed. Subgroup analysis revealed that the summary sensitivity and specificity were 85% (95% CI: 77-91%) and 79% (95% CI: 71-86%), respectively, and the summary AUROC was 0.89 (95% CI: 0.86-0.92). Conclusions: Ultrasound elastography exhibits good diagnostic accuracy for BA and can be served as a non-invasive tool to facilitate the differential diagnosis of BA.


Assuntos
Atresia Biliar , Técnicas de Imagem por Elasticidade , Humanos , Técnicas de Imagem por Elasticidade/métodos , Atresia Biliar/diagnóstico por imagem , Sensibilidade e Especificidade , Curva ROC , Diagnóstico Diferencial
8.
Front Pediatr ; 10: 972855, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36340714

RESUMO

Objective: To establish a nomogram to predict the outcome of biliary atresia (BA) infants 3-months post- Kasai portoenterostomy (KPE). Methods: BA Infants who underwent KPE from two hospitals were included in the training (n = 161) and validation cohorts (n = 64). A logistic regression equation (Equation A) for predicting the serum total bilirubin (TBIL) level 3-month post-KPE was established in the training cohort. Then, a nomogram was developed based on Equation A in the training cohort and validated in the validation cohort. Moreover, a new equation (Equation B) was generated based on the nomogram and the size of the enlarged hilar lymph nodes (LNs) in the validation cohort. The predictive performance of the nomogram was evaluated by the receiver operating characteristic (ROC) curve and by calculating the area under the ROC curve (AUC), sensitivity, specificity, and positive (PPV) and negative (NPV) prediction values. Results: A nomogram based on gallbladder morphology and serum levels of TBIL and total protein (TP) was established with AUC (95%CI) of 0.673 (0.595, 0.745) and 0.647 (0.518, 0.763), sensitivity (95%CI) of 71.4% (62.1%,79.6%) and 81.8% (59.7%,94.8%), specificity (95%CI) of 63.3% (48.3%,76.6%) and 47.6% (32.0%,63.6%), PPV (95%CI) of 81.6% (72.5%,88.9%) and 45.0% (29.3%,61.5%), and NPV (95%CI) 49.2% (36.4%,62.1%) and 83.3% (62.6%,95.3%), respectively, in the training and validation cohorts. Furthermore, in the validation cohort, the AUC (95%CI) of Equation B was 0.798 (95%CI: 0.679, 0.888), which was significantly higher than that of the nomogram (P = 0.042). Conclusion: A nomogram based on the pre-KPE gallbladder morphology, TBIL, and TP to predict the outcome of BA 3-months post-KPE is established. Moreover, the addition of the size of the enlarged hilar LNs into the nomogram further improves its predictive value.

9.
J Clin Ultrasound ; 50(4): 525-531, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35244941

RESUMO

PURPOSE: To establish the utility of an ultrasonographic scoring system for the diagnosis of adnexal torsion. METHODS: We retrospectively analyzing 358 adnexal torsion cases. Using Pearson's χ2 test we determined whether ultrasonographic signs were significantly associated with adnexal torsion. Receiver operating characteristic curves were used to evaluate the diagnostic efficacy of the system. Ultimately by using binary logistic regression we established a precise and convenient scoring system. RESULTS: The torsion score was based on five criteria that were identified to be independently associated with adnexal torsion: (1) abnormal position of the index adnexa (odds ratio [OR], 2.311); (2) presence of a mass or cyst (OR, 3.495); (3) unilateral ovarian enlargement (OR, 3.051); (4) vascular pedicle twisting (OR, 2.105); and (5) peripheral hypervascularity of the corpus luteum with ovarian edema(encapsulating cyst sign) (OR, 4.164).patients with torsion who scored 0, have a predicted diagnosis rate of 20.9%; patients whose scores were 1,2 have a predicted probability of 41.8% and 66.15%, respectively. For patients with torsion scores of 3, 4, and 5, predicted diagnosis rates were 84.16%, 93.52%, and 98.27%, respectively. CONCLUSION: The ultrasonographic scoring system is feasible and precisely diagnoses adnexal torsion using ultrasound.


Assuntos
Doenças dos Anexos , Cistos , Doenças dos Anexos/complicações , Doenças dos Anexos/diagnóstico por imagem , Cistos/complicações , Feminino , Humanos , Torção Ovariana , Estudos Retrospectivos , Anormalidade Torcional/complicações , Anormalidade Torcional/diagnóstico por imagem
10.
J Ultrasound Med ; 41(11): 2805-2817, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35229893

RESUMO

OBJECTIVES: To develop and validate a biliary atresia (BA) diagnostic score based on serum gamma-glutamyl transferase (GGT) levels and conventional ultrasound features for discriminating BA in patients with jaundice from two centers. METHODS: A total of 958 patients from one hospital were classified as the derivation cohort, and 725 patients from another hospital were classified as the validation cohort. The optimal GGT cutoff value for diagnosing BA was calculated in the derivation cohort and subsequently verified in the validation cohort. Gallbladder abnormalities and the triangular cord (TC) sign were evaluated in all patients. A BA diagnostic score was developed for diagnosing BA using the GGT levels, gallbladder abnormalities and the TC sign based on the data from the derivation cohort followed by external validation. RESULTS: Based on the optimal cutoff value 350.0 U/L, GGT yielded a sensitivity of 59.3% and specificity of 85.4% in diagnosing BA. The area under the receiver operating characteristic curve (AUC 0.724) was inferior to that of the gallbladder (AUC 0.911, P < .001) and comparable to that of the TC sign (AUC 0.771, P = .128). The combination of GGT and ultrasound diagnosis could help to reduce the misdiagnosis of 9 infants with BA. The BA diagnostic score yielded a sensitivity of 93.3% and specificity of 95.0% with the highest AUC in this study (0.941). CONCLUSIONS: GGT can add diagnostic value to ultrasound examination when diagnosing BA. The BA diagnostic score based on GGT, gallbladder abnormalities and the TC sign shows satisfactory discrimination abilities in BA.


Assuntos
Atresia Biliar , Lactente , Humanos , Atresia Biliar/diagnóstico por imagem , gama-Glutamiltransferase , Estudos Retrospectivos , Ultrassonografia , Vesícula Biliar/diagnóstico por imagem
11.
Nat Commun ; 12(1): 1259, 2021 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-33627641

RESUMO

It is still challenging to make accurate diagnosis of biliary atresia (BA) with sonographic gallbladder images particularly in rural area without relevant expertise. To help diagnose BA based on sonographic gallbladder images, an ensembled deep learning model is developed. The model yields a patient-level sensitivity 93.1% and specificity 93.9% [with areas under the receiver operating characteristic curve of 0.956 (95% confidence interval: 0.928-0.977)] on the multi-center external validation dataset, superior to that of human experts. With the help of the model, the performances of human experts with various levels are improved. Moreover, the diagnosis based on smartphone photos of sonographic gallbladder images through a smartphone app and based on video sequences by the model still yields expert-level performances. The ensembled deep learning model in this study provides a solution to help radiologists improve the diagnosis of BA in various clinical application scenarios, particularly in rural and undeveloped regions with limited expertise.


Assuntos
Atresia Biliar/diagnóstico , Aprendizado Profundo , Ultrassonografia/métodos , Vesícula Biliar/diagnóstico por imagem , Humanos , Curva ROC
12.
Sci Rep ; 10(1): 7564, 2020 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-32371943

RESUMO

Early diagnosis of congenital heart disease (CHD) can improve the prognosis of neonates with CHD. We retrospectively evaluated the value of prenatal diagnosis of CHD by comparing the pregnancy outcomes. Prenatal diagnosis of CHD was established by echocardiographic evaluation of fetal heart. Amniotic fluid and/or cord blood genetic examination, pathological anatomy, casting specimen, and/or multidisciplinary-joint consultation (MDJC) were performed. A total of 1492 fetuses with CHD were diagnosed by prenatal echocardiography from 67834 pregnant women. There were 445, 236, 583, and 228 cases in groups A (simple CHD), B (simple CHD plus extra-cardiac abnormality), C (complex CHD), and D (complex CHD plus extra-cardiac abnormality), respectively. The pregnancy continuation rate in the four groups was 98.67%, 85.71%, 67.65%, and 36.84%, respectively (P < 0.001). The pregnancy termination rate for fetal CHD with extra-cardiac abnormalities was significantly higher than that for fetuses with only CHD (81.24% vs. 53.6%, P < 0.05). Prenatal genetic test revealed chromosomal abnormalities in 20.43% of fetuses with CHD. MDJC significantly decreased the pregnancy termination rate. In 88 cases, the original decision to terminate the pregnancy was changed after consultation and the pregnancy was continued. Of these, 87 cases culminated in live births; 65 of these children had better prognosis. Nine-segment sequential segment analysis method for prenatal fetal echocardiography was compared with the results of pathological anatomy, cast specimen, postoperative diagnosis, and postnatal ultrasound. The accuracy of prenatal ultrasound for diagnosis of fetal complex CHD and fetal simple CHD was 90.5-91.66% and 98.6%, respectively. Prenatal ultrasound is still the most effective method for fetal CHD diagnosis.


Assuntos
Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Resultado da Gravidez , Diagnóstico Pré-Natal , Adulto , Aberrações Cromossômicas , Ecocardiografia , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Comunicação Interdisciplinar , Gravidez , Prognóstico , Encaminhamento e Consulta , Estudos Retrospectivos , Fatores de Risco , Ultrassonografia Pré-Natal , Adulto Jovem
13.
Eur Radiol ; 29(12): 6699-6707, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31297631

RESUMO

OBJECTIVES: To prospectively assess whether the detection of hepatic hilar lymph nodes (LNs) contributes to the diagnosis of biliary atresia (BA). METHODS: A total of 80 jaundiced infants were enrolled in this study and had abdominal ultrasound (US). The hepatic hilar LNs, the gallbladder classification, and the triangular cord (TC) thickness of all infants were evaluated. The area under the receiver operating characteristic curve (AUROC) analysis, t tests, and chi-squared tests were used to compare US signs between infants with BA and those without BA. RESULTS: BA was found in 45 patients and excluded in 35 patients. The length of the hepatic hilar LNs in infants with BA (median with interquartile range, 11 mm (8, 13.5)) was significantly greater than that in infants without BA (0 mm (0, 0)) (p < 0.001). The AUROCs of the enlarged hepatic hilar LNs, gallbladder classification, and TC thickness were 0.867, 0.894, and 0.832, respectively. The accuracy of LNs (87.5%) in the diagnosis of BA was close to that of the gallbladder classification scheme (88.8%) (p = 0.049) and was higher than that of the TC thickness (82.5%) (p = 0.031). The enlarged LNs had the highest sensitivity (93.3%) in distinguishing BA from non-BA. CONCLUSIONS: The presence of enlarged hepatic hilar LNs is an additional highly sensitive sign for the noninvasive diagnosis of BA. Through the combination of enlarged LNs, gallbladder classification, and TC thickness, most BA could be identified. KEY POINTS: • An enlarged hepatic hilar LN is an additional US sign for the noninvasive diagnosis of biliary atresia. • Combining enlarged hepatic hilar LNs, gallbladder classification, and TC thickness, BA could be diagnosed in most infants.


Assuntos
Atresia Biliar/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Ultrassonografia/métodos , Área Sob a Curva , Atresia Biliar/patologia , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Fígado , Linfonodos/patologia , Masculino , Estudos Prospectivos , Curva ROC
14.
Echocardiography ; 36(6): 1153-1158, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31116443

RESUMO

BACKGROUND: The previous literature on common pulmonary vein atresia (CPVA) mainly consists of neonatal case reports. There is a lack of research on the prenatal diagnosis of CPVA. METHODS: We conducted a retrospective study of all fetuses with CPVA confirmed by autopsy between August 2010 and May 2018. Prenatal echocardiographic features, autopsy findings, and genetic test results were analyzed. We compared fetal CPVA with total anomalous pulmonary venous return (TAPVR) and neonatal CPVA. RESULTS: During the study period, fetal echocardiography was performed on 31 617 fetuses. Six cases of CPVA were identified by autopsies, including 1 case performed with a cardiovascular cast. All 6 cases (100%) had asplenia syndrome (AS) and bilateral superior vena cava (BSVC). In 1 case (16.7%), the prenatal ultrasound results were in complete agreement with the postmortem findings. Four cases (66.7%) were misdiagnosed as TAPVR by prenatal echocardiography. For the remaining case (16.7%), no pulmonary venous anomalies were detected on prenatal echocardiography. No aneuploidy was identified in any of the cases. There were no statistically significant differences among the proportions of associated complex anomalies and AS between the fetal CPVA and TAPVR groups. The proportion of associated complex anomalies and AS in the fetal CPVA group was higher than that in the neonatal group (P < 0.05). CONCLUSIONS: Prenatal diagnosis of fetal CPVA is difficult and challenging even for experts. Our study showed that fetal CPVA is often combined with AS, complex cardiac malformations, and BSVC. These findings may help in the diagnosis of fetal CPVA.


Assuntos
Autopsia , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Malformações Vasculares/diagnóstico por imagem , Adulto , China , Feminino , Humanos , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Síndrome de Cimitarra/diagnóstico por imagem , Adulto Jovem
15.
J Am Soc Echocardiogr ; 32(2): 296-302.e5, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30591282

RESUMO

BACKGROUND: Normative ranges of fetal echocardiographic measurements are important for quantitative diagnosis of fetal cardiovascular disease. The current normative ranges were derived from small samples and were based on the hypothesis of a normal distribution of these measurements during fetal cardiovascular growth. The aims of this study were to test the hypothesis of a normal distribution of fetal echocardiographic measurements in a large multicenter cohort and to propose a reference system without the normal distribution hypothesis to improve accuracy of fetal echocardiographic measurements. METHODS: Fifty-two variables from 6,343 normal fetal echocardiographic examinations were acquired from seven Chinese centers. The hypothesis of a normal distribution used in ordinary least squares regression was tested with the Jarque-Bera test. The quantile score (q score) derived from quantile regression without normal distribution hypothesis was compared with the Z score derived from ordinary least squares regression. A total of 288 fetuses with outflow tract and great artery abnormalities and 300 normal fetuses were used to compare the diagnostic accuracy of q and Z scores. RESULTS: All fetal echocardiographic measurements showed non-normal distributions (P < .001). The normal range was underestimated by ordinary least squares regression compared with quantile regression by 30 ± 11%. The partial normalized areas under the receiver operating characteristic curve within the 20% false-positive rate were 0.62 and 0.50 for the q and Z scores, respectively. CONCLUSIONS: The q score provides a more robust system for determining normative ranges of fetal echocardiographic measurements. The improved sensitivity of matched false-positive rates makes the q score a more accurate reference for prenatal diagnosis, assessment, and prognosis of fetal cardiovascular disease.


Assuntos
Algoritmos , Doenças Cardiovasculares/diagnóstico , Ecocardiografia/métodos , Doenças Fetais/diagnóstico , Coração Fetal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Doenças Cardiovasculares/embriologia , Feminino , Idade Gestacional , Humanos , Gravidez , Curva ROC , Valores de Referência
17.
Prenat Diagn ; 38(5): 310-317, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29451683

RESUMO

BACKGROUND: Anomalous origin of the pulmonary arteries is a rare congenital pulmonary vascular malformation that includes unilateral absence of the pulmonary artery (UAPA), anomalous origin of unilateral pulmonary artery (AOPA), and left pulmonary artery sling (LPAS). METHODS: We analyze 15 cases of fetal pulmonary artery abnormalities from 2011 to 2017, detected via prenatal ultrasound at our center. RESULTS: The 15 cases include UAPA (5), AOPA (6), and LPAS (4). Of the UAPA cases, 2 had pulmonary atresia and 3 had pulmonary artery stenosis. In 5 cases, the descending aorta issued collateral vessels to the left lung. Of the AOPA cases, 2 had left pulmonary artery abnormalities originating in the ascending aorta and 4 showed right pulmonary artery abnormalities originating in the ascending aorta. Of the LPAS cases, 2 were type IA, 1 was type IIA, and 1 was type IIB. Two of the LPAS were associated with right lung dysplasia. CONCLUSION: Abnormal origin of the pulmonary artery has a characteristic ultrasonographic appearance. The branch of the pulmonary artery cross section can provide important clues to the diagnosis of abnormal pulmonary artery origin. Pulmonary artery abnormalities are often associated with pulmonary atresia or stenosis.


Assuntos
Cardiopatias Congênitas/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Adulto , Feminino , Humanos , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Adulto Jovem
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