Assessment of free fetal DNA concentration in maternal plasma during the first trimester of pregnancy: comparative study between EDTA and PPT tubes - pilot study.

OBJECTIVE: To compare ethylenediamine tetraacetic acid (EDTA) tubes and plasma preparation tubes (PPT) for evaluating maternal plasma during the first trimester of pregnancy. METHODS: A cross-sectional study was conducted on 24 male fetuses in women between 6 and 14 weeks of pregnancy. Blood samples (10 mL) were collected and stored in EDTA and PPT tubes. Subsequently, the samples were centrifuged and sent for free fetal DNA extraction by means of the polymerase chain reaction (PCR) technique. The reactions were performed in a real time PCR machine for detecting the amplification products. The genome region chosen for performing the PCR reactions was a target specific for the Y chromosome, in which the DYS-14 marker was amplified only when the DNA was of male sex. The free fetal DNA concentration was given by the threshold cycle (TC). To compare the tubes, the paired Student t-test was used. RESULTS: The mean gestational age was 11.08 ± 2.30 weeks (range: 6-14). The mean TC for PPT was 30.08 ± 1.05 (range: 27.08-32.61) and for EDTA, 30.23 ± 0.96 (range: 28.01-32.09), but without statistical significance (p=0.357). CONCLUSION: We did not observe any statistically significant difference in free fetal DNA concentration between the EDTA and PPT tubes.

Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

Reference ranges for 2-dimensional sonographic lung measurements in healthy fetuses: a longitudinal study.

OBJECTIVES: The purpose of this study was to establish reference ranges for 2-dimensional sonographic measurements of fetal lungs from longitudinal data. METHODS: A total of 214 fetal lung measurements were longitudinally evaluated in 62 healthy fetuses between 20 and 36 weeks' menstrual age. Both right and left lung areas were measured in the heart 4-chamber view using lung area tracing and axis diameter methods. Multilevel modeling was used to evaluate the expected values and variability with respect to menstrual age and to generate reference ranges for the lung area, lung-to-head ratio, quantitative lung index, and observed-to-expected lung-to-head ratio for both lungs. RESULTS: The expected values varied with menstrual age for all parameters. Variance was menstrual age dependent for all parameters except the longest diameter area measurements and their lung-to-head ratios. CONCLUSIONS: Models are presented for expected 2-dimensional sonographic lung size parameters and their variance as a function of menstrual age. These data have been used to generate age-specific reference ranges for both measurements and indices.

Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.

The objective of the present study was to evaluate the influence of second-trimester ultrasound markers on the incidence of Down syndrome among pregnant women of advanced maternal age. This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. To investigate differences between the groups with and without markers, nonparametric tests consisting of the chi-square test or Fisher's exact test were used. Moreover, odds ratios with their respective 95% confidence intervals were calculated. Out of the 889 pregnant women, 131 (17.3%) presented markers and 758 (82.7%) did not present markers on the second-trimester ultrasound. Increased nuchal fold (P < 0.001) and structural malformation (P < 0.001) were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold. The presence of markers on the second-trimester ultrasound, especially thickened nuchal fold and structural malformation, increased the risk of Down syndrome among pregnant women with advanced maternal age.

Prenatal diagnosis of a large epignathus teratoma using two-dimensional and three-dimensional ultrasound: correlation with pathological findings.

Epignathus teratomas are rare tumors that originate in the region of the palate or pharynx and are known as Rathke pouch. They may be associated with other malformations such as a cleft palate and bifid tongue or nose. The prenatal diagnosis can be established by two-dimensional ultrasonography showing a heterogeneous mass protruding through the mouth of the fetus. The three-dimensional ultrasonography in rendering mode permits better understanding of this anomaly by the parents, facilitating the counseling. The importance of prenatal diagnosis lies in the fact that this tumor may obstruct the airways, thus leading to death at birth due to respiratory insufficiency. We report a case of prenatal diagnosis of epignathus teratoma in the 30th week of pregnancy by two-dimensional ultrasonography. We focus on the importance of three-dimensional ultrasonography in rendering mode for demonstrating the spatial relationships of the tumor with the oral cavity and provide correlations between the ultrasound images and the anatomopathological findings.

Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

Comparison of Fetal Cerebellum and Cisterna Magna Length by 2D and 3D Ultrasonography between 18 and 24 Weeks of Pregnancy.

To compare the fetal cerebellum and cisterna magna length measurements by means of two- (2DUS) and three-dimensional (3DUS) ultrasonography using the three-dimensional extended imaging (3D XI), a cross-sectional study with 69 healthy pregnant women between 18 and 24 weeks was performed. For the measurements by 2DUS, the axial planes were used and for the 3DUS a sequence of adjacent axial slices (multislice view). To evaluate the difference between the two techniques, we used the Wilcoxon test. To evaluate the correlation between the cerebellum and cisterna magna length measurements and the gestational age, we used the Spearman correlation coefficient (r). For the calculation of reproducibility, we used the intraclass correlation coefficient (ICC). The mean of the transverse and anterior-posterior diameter of cerebellum and cisterna magna by 3DUS was 9.23 and 6.62 mm, respectively. It was observed that the average of the measurements obtained by 3DUS was significantly higher, 0.76 and 1.02 mm for the length of the cerebellum and cisterna magna, respectively (P < 0.001). There was a high correlation between the length measurement of the cerebellum 3D (r = 0.940, P < 0.001), but low correlation of cisterna magna 3D (r = 0.462, P = 0.080) with the gestational age. There was good intra- and interobserver reproducibility for the cerebellum and cisterna magna 3D with ICC = 0.792 , 0.668, 0.691, and 0.287, respectively. The measurements of the fetal cerebellum and cisterna magna length by 3DUS using the software 3D XI were significantly higher than those obtained by 2DUS.

Comparison of Fetal Nuchal Fold Thickness Measurements by Two- and Three-Dimensional Ultrasonography (3DXI Multislice View).

Purpose. To compare the measurements of fetal nuchal fold (NF) thickness by two-dimensional (2D) and three-dimensional (3D) ultrasonography using the three-dimensional extended imaging (3DXI). Methods. A cross-sectional study was performed with 60 healthy pregnant women with a gestational age between 16 and 20 weeks and 6 days. The 2D-NF measurements were made as the distance from the outer skull bone to the outer skin surface in the transverse axial image in the suboccipital-bregmatic plane of the head. For the 3D we employed the 3DXI multislice view software, in which 3 × 2 tomographic planes was displayed on the screen and the distance between the tomographic slices was 0.5 mm. Maximum, minimum, mean, and standard deviation were calculated for 2D and 3D ultrasonography, as well the maximum and minimum, mean, and standard deviation for the difference between both methods. The Wilcoxon signed-rank test was used to compare the two different techniques. Results. 2D-NF showed a mean of thickness of 3.52 ± 0.95 mm (1.69-7.14). The mean of 3D-NF was 3.90 ± 1.02 mm (2.13-7.72). The mean difference between the methods was 0.38 mm, with a maximum difference of 3.12 mm. Conclusion. The NF thickness measurements obtained by 3D ultrasonography were significantly larger than those detected with 2D ultrasonography.

New anatomical landmarks to study the relationship between fetal lung area and thoracic circumference by three-dimensional ultrasonography.

OBJECTIVE: To evaluate the relation between total lung area (TLA) and thoracic circumference (TC) ratio by three-dimensional (3D) ultrasonography applying new anatomical landmarks as the fetal aorta and inferior angle of the scapula. METHODS: A longitudinal prospective study was conducted with 56 uncomplicated pregnancies between 24 and 32 weeks of gestation. Polynomial regressions were used to evaluate the correlation between TC and gestational age (GA) as well as TC and estimated fetal weight (EFW). A simple linear regression was used to evaluate the correlation between TLA and Total thoracic area (TTA) and GA. The intraclass correlation coefficient (ICC) was used to assess the intra and interobserver variability. RESULTS: 127 examinations were performed. TC values ranged from 150 to 174 mm (mean 166 mm) at 24 weeks and 215-248 mm (mean 231 mm) at 32 weeks. The TLA/TC ratio ranged from a mean of 0.64 at 24 weeks (range 0.56-0.70) to 0.90 at 32 weeks gestation (range 0.79-1.01). The intraobserver variability using the ICC was of 0.919 for TC; 0.916 for TTA; 0.860 for right lung area (RLA) and 0.910 for left lung area (LLA). Interobserver reproducibility was with an ICC of 0.970 for TC; 0.984 for RLA and 0.910 for LLA. CONCLUSIONS: Measurement of fetal TC and the relationship between TLA and TC by 3D-ultrasonography applying new anatomical landmarks shows good reproducibility and allows a new assessment of thoracic and lung growth.

[Analysis of the combined first trimester screening for chromosomal abnormalities]. / Análise do rastreamento combinado no primero trimestre da gestação para detecção de anomalias cromossômicas.

PURPOSE: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population. METHODS: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To evaluate the performance of the test, the detection rate, specificity, negative and positive predicted values and false-positive rates were calculated, considering as high risk the cut-off value above 1 in 300. RESULTS: we studied 456 patients submitted to the test. Advanced maternal age above 35 years was observed in 36.2% of cases. The incidence of chromosomal abnormalities in the study population was 2.2%. Twenty-one patients (4.6%) presented a high risk (above 1:300) by the combined test. Using this cut-off level, the detection rate of the test was 70% for all chromosomal abnormalities and 83.3% for trisomy 21, for a false-positive rate of 3.1%. CONCLUSIONS: the combined first trimester screening was effective to detect chromosomal abnormalities, mainly for trisomy 21, with low false-positive rates. The combined test contributed to decreasing the indication of an invasive test if we compare to maternal age alone as a risk factor.

Análise do rastreamento combinado no primero trimestre da gestação para detecção de anomalias cromossômicas / Analysis of the combined first trimester screening for chromosomal abnormalities

OBJETIVO: avaliar o desempenho do rastreamento combinado do primeiro trimestre da gestação na detecção de anomalias cromossômicas em um grupo da população brasileira. MÉTODO: estudo retrospectivo envolvendo gestantes com feto único, referidas ao setor de medicina fetal para a realização do teste de rastreamento do primeiro trimestre da gestação pela combinação da idade materna, a medida da translucência nucal e dois marcadores bioquímicos do soro materno: free B-hCG e PAPP-A. Para avaliar o desempenho do teste foram calculados a sensibilidade, especificidade, valores preditivos positivos e negativos e as taxas de falso positivo, considerando como risco elevado valores superiores a 1:300. RESULTADOS: foram incluídas 456 gestantes submetidas ao teste. A idade materna avançada, acima de 35 anos, ocorreu em 36,2 por cento dos casos. A incidência de cromossomopatia na população estudada foi de 2,2 por cento. Vinte e uma das gestantes (4,6 por cento) apresentou risco elevado ao teste (superior a 1:300). Usando-se este ponto de corte, a sensibilidade do teste foi de 70 por cento para as cromossomopatias em geral e 83,3 por cento para os casos de trissomia do cromossomo 21, com taxa de falso positivo de 3,1 por cento. CONCLUSÃO: o rastreamento combinado do primeiro trimestre foi eficaz na detecção das anomalias cromossômicas, principalmente em relação aos casos de trissomia 21, com baixas taxas de falso positivo. Observou-se importante contribuição do teste em reduzir a indicação do exame invasivo comparado ao uso da idade materna como fator de risco.

PURPOSE: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population. METHODS: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To evaluate the performance of the test, the detection rate, specificity, negative and positive predicted values and false-positive rates were calculated, considering as high risk the cut-off value above 1 in 300. RESULTS: we studied 456 patients submitted to the test. Advanced maternal age above 35 years was observed in 36.2 percent of cases. The incidence of chromosomal abnormalities in the study population was 2.2 percent. Twenty-one patients (4.6 percent) presented a high risk (above 1:300) by the combined test. Using this cut-off level, the detection rate of the test was 70 percent for all chromosomal abnormalities and 83.3 percent for trisomy 21, for a false-positive rate of 3.1 percent. CONCLUSIONS: the combined first trimester screening was effective to detect chromosomal abnormalities, mainly for trisomy 21, with low false-positive rates. The combined test contributed to decreasing the indication of an invasive test if we compare to maternal age alone as a risk factor.

Assessment of placental blood flow between 22 and 34 weeks of gestation by 3D-sonography power Doppler vascular indices.

PURPOSE: To analyze and compare the vascular flow in different parts of the placenta of normal pregnant women between 22 and 34 weeks of gestation through three-dimensional power Doppler ultrasonography (3D power Doppler) vascular indices. METHODS: This is a cross-sectional study involving 55 normal pregnant women with gestational ages between 22 and 34 weeks. The vascularization index (VI), flow index (FI) and vascularization flow index (VFI) were obtained using the virtual organ computer-aided analysis (VOCAL) method both in the region of placental cord insertion and the peripheral region of the placenta. The Wilcoxon test was applied, adopting a significance level of 5% to evaluate possible differences in these indices between study areas. RESULTS: For the three indices examined (VI, FI and VFI), a statistically significant difference was obtained between the insertion of the umbilical cord, designated as the center, and the placental periphery on both the right (p < 0.001 for VI, p = 0.001 for FI and p < 0.001 for VFI) and the left (p < 0.001 for VI, p < 0.001 for FI and p = 0.001 for VFI), taken as the average of the rates obtained in the two peripheries (p < 0.001 for VI, p < 0.001 for FI and p = 0.003 for VFI). Differences were not found when the two peripheral areas were compared or if placenta was anterior or posterior (p > 0.05). CONCLUSION: There is a statistically significant difference between the vascular indices obtained with a 3D power Doppler at different points of the placenta.

Reference range of fetal renal volume by three-dimensional ultrasonography using the VOCAL method.

OBJECTIVE: To establish reference values for fetal renal volume by three-dimensional sonography using the VOCAL (Virtual Organ Computer-Aided Analysis) method. METHODS: This prospective longitudinal study involved 57 healthy pregnant women who were examined between 24 and 34 weeks of pregnancy. Each fetal kidney was evaluated separately using the VOCAL method with a 30 degree rotation angle. For each gestational age, the following measures were obtained for the right and left kidneys: mean, standard deviation, minimum and maximum values, and the 5th, 10th, 25th, 50th, 75th and 90th percentiles. Polynomial regression models were constructed to assess the relationship between renal volume and gestational age, adjusted by the determination coefficient (R(2)). The Wilcoxon test was used to evaluate the concordance between the right and left renal volumes. Bland-Altman graphs were used to assess intra- and inter-observer variability. RESULTS: The right renal volume increased from 4.5 +/- 1.3 cm(3) at 24 weeks to 12.1 +/- 1.5 cm(3) at 34 weeks. The left renal volume increased from 4.6 +/- 0.8 cm(3) at 24 weeks to 11.9 +/- 1.1 cm(3) at 34 weeks. There was a strong correlation between both the right and left renal volumes and gestational age (R(2) = 0.975 and 0.970, respectively). There were no significant differences between the right and left renal volumes. The mean difference between repeated measures by the same examiner was -0.07 cm(3) (-0.88 to 0.75) for the right kidney and -0.21 cm(3) (-0.95 to 0.75) for the left kidney. The mean difference between repeated measures obtained by two different examiners was -0.07 cm(3) (-1.25 to 1.12) for the right kidney and 0 cm(3) (-1.53 to 1.53) for the left kidney. CONCLUSION: Reference values were generated for fetal renal volume assessed by three-dimensional ultrasonography using the VOCAL method.

Fetal lung volume: comparison by 2D- and 3D-sonography in normal fetuses.

PURPOSE: To compare two-dimensional ultrasonography (2D US) and three-dimensional ultrasonography (3D US) in the assessment of normal fetal lung volume. METHODS: A cross-sectional study was performed involving 50 normal pregnancies at 24-32 weeks' gestation. The following equations were used for lung volume calculation by 2D US: Eq(2D1) = 4.24 + {1.53 x [(area of base of both lungs) x 1/3 (height of right lung)]} and Eq(2D2) = [anteroposterior diameter (X) x transverse diameter (Y) x cranial-caudal diameter (Z) of the right lung x 0.152 + (X') x (Y') x (Z') of the left lung x 0.167]. For 3D US, the virtual organ computer-aided analysis (VOCAL) method was used with a 30 degrees rotation angle and the total lung volume (V3D) was obtained by summing the volumes of each lung. Regression models (R (2)) were devised to assess lung volume evolution over the course of the pregnancy. Pearson's correlation coefficient (r) was used to assess correlation among the techniques, while Friedman's test was used for means comparisons. RESULTS: Strong correlation was observed among the three techniques [V3D vs. Eq(2D2) r = 0.856; V3D vs. Eq(2D1) r = 0.838 and Eq(2D2) vs. Eq(2D1) r = 0.964; all with P < 0.001]. Mean lung volumes were 37.05 +/- 9.67, 29.79 +/- 8.79 and 12.67 +/- 4.12 ml for V3D, Eq(2D1) and Eq(2D2), respectively (P < 0.001). CONCLUSIONS: Strong correlation and significant difference was observed among the three techniques of fetal lung volume assessment in normal fetuses.

Reference range of fetal lung volume by 3D-ultrasonography using the rotational method (VOCAL).

AIM: To determine reference ranges for fetal lung volume by 3-dimensional ultrasonography using the VOCAL (Virtual Organ Computed-aided Analysis) method. METHODS: A longitudinal prospective study was conducted with 61 uncomplicated pregnancies between 24 and 32 weeks of gestation. A separate measurement of both lungs volume was conducted by VOCAL with 30 degrees rotation angle. For each gestational age, an average, standard deviation and maximal and minimal values were established in addition to the percentiles 5, 10, 25, 50, 75 and 90 for right and left lung volume. To evaluate the correlation between lung volume and gestational age, and estimated fetal weight, a polynomial regression with determination coefficient adjustment (R(2)) was used. The intra-observer reproducibility was evaluated by the intraclass correlation coefficient (ICC), whereas the inter-observer reproducibility was evaluated by Cronbach alpha statistic test. RESULTS: The average right lung volume varied from 12.5+/-0.7 cm(3) at the 24(th) week to 31.8 cm(3)+/-1.8 cm(3) at the 32(nd) week. The average left lung volume varied from 9.2+/-0.9 cm(3) at the 24(th) week to 22.0 cm(3)+/-1.6 cm(3) at the 32(nd) week. We observed a strong correlation between right lung volume and gestational age (R(2)=0.975) and estimated fetal weight (R(2)=0.905), as well as between the left lung volume with gestational age (R(2)=0.970) and estimated fetal weight (R(2)=0.908). We observed a good intra-observer reproducibility for the right lung volume (ICC=0.990) and for the left lung volume (ICC=0.986). Similarly, we observed good inter-observer reproducibility for right lung volume (0.975) and left lung volume (0.962). CONCLUSION: Reference range of fetal lung volume by 3D-ultrasonography using the VOCAL method was determined.

Medida do comprimento do osso nasal entre 11 e 15 semanas de gestação em uma população brasileira: estudo preliminar / Measurement of fetal nasal bone length in the period between 11 and 15 gestational weeks in a Brazilian population: a preliminary study

OBJETIVO: Determinar valores de referência para o comprimento do osso nasal entre 11 e 15 semanas de gestação em uma população brasileira. MATERIAIS E MÉTODOS: Realizou-se estudo de corte transversal com 171 gestantes normais entre 11 e 15 semanas completas. O osso nasal foi medido por via transabdominal em todos os casos. Foram calculados os percentis 5 a 95 para o comprimento do osso nasal pela fórmula: média ± 1,645 desvio-padrão. Para avaliar a correlação do comprimento do osso nasal com parâmetros antropométricos fetais utilizou-se o coeficiente de correlação de Spearman, com intervalo de confiança de 95 por cento. RESULTADOS: O osso nasal foi mensurado em todos os casos, sendo que o comprimento médio variou de 1,69 mm a 2,94 mm. O comprimento do osso nasal mostrou-se fortemente correlacionado com todos os parâmetros antropométricos fetais (p < 0,001) e com a idade gestacional (R² = 0,59). CONCLUSÃO: Apesar de ser um estudo preliminar, a curva de referência do comprimento do osso nasal foi estabelecida.

OBJECTIVE: To establish reference values for fetal nasal bone length measurements between 11 and 15 gestational weeks in a Brazilian population. MATERIALS AND METHODS: A cross-sectional study was developed with 171 normal pregnant women between their 11th and 15th gestational weeks. The fetal nasal bone was measured by means of transabdominal ultrasound in all of the cases. The 5th and 95th percentiles for the nasal bone length were calculated by the formula: mean ± 1.645 standard deviation. The Spearman correlation coefficient with 95 percent confidence interval was utilized to correlate the nasal bone length with fetal anthropometric parameters. RESULTS: The nasal bone could be measured in all of the cases with the mean length ranging between 1.69 mm and 2.94 mm. Nasal bone length demonstrated to be strongly correlated with all of the fetal anthropometric parameters (p < 0.001) and with the gestational age (R² = 0.59). CONCLUSION: Despite the preliminary character of the present study, a reference range of fetal nasal bone length was established.

Prenatal diagnosis of Ebstein's anomaly using spatio-temporal image correlation (STIC) and inversion mode.

BACKGROUND: Ebstein's anomaly is a rare cardiac defect where the septal and posterior leaflets are displaced, towards the right ventricle. The leaflets are dysplastic and stuck to the ventricular wall. Its antenatal diagnosis is usually made through bidimensional echocardiography, which also has prognostic value. Recently, the technological breakthrough of three-dimensional ultrasound (3D-US) offered new diagnostic tools for congenital heart defects, less dependent on the ultrasonographer experience, when compared to two-dimensional ultrasound (2D-US). The spatio-temporal image correlation (STIC) technique allows the acquisition of the fetal heart volume and its structures as a 4D cineloop sequence showing the complete cardiac cycle. Inversion mode is a new image analysis tool for the examination of fluid-filled fetal structures that inverts the gray scale. CASE REPORT: We present a case of Ebstein's anomaly diagnosed at 26 weeks of pregnancy through bidimensional echocardiography. We emphasize its main findings in 3D-US using the STIC and inversion mode techniques.

Valor preditivo do resultado fetal da dopplervelocimetria de ducto venoso entre a 11ª e a 14ª semanas de gestação / Predictive value for fetal outcome of Doppler velocimetry of the ductus venosus between the 11th and the 14th gestation week

OBJETIVO: estudar o valor da dopplervelocimetria do ducto venoso (DV) entre a 11º e a 14º semanas de gestação, associado à medida da translucência nucal (TN), na detecção de resultado fetal adverso. MÉTODOS: foram estudados 1.268 fetos consecutivamente. Em 56 casos, realizou-se estudo citogenético no material obtido, por meio de biópsia de vilosidade coriônica e, em 1.181 casos, o resultado teve como base o fenótipo do recém-nascido. Todos os fetos foram submetidos, além da ultra-sonografia de rotina, à medida da TN e à dopplervelocimetria do DV. Trata-se de um estudo transversal e prospectivo. Foram calculados e analisados, para fins de prevalência e índices de acurácia: sensibilidade, especificidade, valor preditivo positivo (VPP), valor preditivo negativo (VPN), probabilidade de falso-positivo (PFP), probabilidade de falso-negativo (PFN), razão de probabilidade positiva e razão de probabilidade negativa. RESULTADOS: do total de 1.268 fetos, foram selecionados para análise 1.183 casos. Deste total, 1.170 fetos eram normais (98,9 por cento) e 13 fetos tiveram resultado fetal adverso ao nascimento (1,1 por cento) - incluindo morte fetal (trissomia 21 e 22) em dois casos, síndrome genética (Nooman) em um caso, fetos polimalformados em dois casos, cardiopatia em três casos e outros defeitos estruturais em cinco casos. A prevalência do DV alterado (onda A zero/reversa) na população estudada foi de 14 casos (1,2 por cento), com taxa de falso-positivo de 0,7 por cento. CONCLUSÕES: há correlação significativa entre alteração da dopplervelocimetria do DV e a medida da TN, como marcadores ultra-sonográficos de primeiro trimestre, na detecção de resultado fetal adverso, especialmente para malformações graves. O Doppler do DV foi capaz de diminuir o resultado falso-positivo, comparativamente ao uso isolado da TN, melhorando consideravelmente o VPP do teste.

PURPOSE: to study the value of Doppler velocimetry of the ductus venosus, between the 11th and 14th weeks of pregnancy, associated to the nuchal translucency thickness measurement, in the detection of adverse fetal outcome. METHODS: a transversal and prospective study in which a total of 1,268 fetuses were studied consecutively. In 56 cases, a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus and, in 1,181 cases, the postnatal phenotype was used as a basis for the result. In addition to the routine ultrasonographic examination, all the fetuses were submitted to measurement of the nuchal translucency thickness and to Doppler velocimetry of the ductus venosus. Aiming at prevalence and accuracy indices, sensitivity, specificity, positive predictive value, negative predictive value, probability of false-positive, probability of false-negative, reason of positive probability and reason of negative probability were calculated and analyzed. RESULTS: from the total of 1,268 fetuses, 1,183 cases were selected for analysis. From this number, 1,170 fetuses were normal (98.9 percent) and 13 fetuses presented adverse outcome at birth (1.1 percent), including fetal death (trisomy 21 and 22) in two cases; genetic syndrome (Nooman) in one case; two cases of polymalformed fetuses; cardiopathy in three cases; and other structural defects in five cases. The prevalence of the modified ductus venosus (wave A zero/reverse) in the studied population was of 14 cases (1.2 percent), with a false-positive rate of 0.7 percent. CONCLUSIONS: there is a significant correlation between the alteration of the ductus venosus Doppler velocimetry and the thickness of the nuchal translucency as an ultrasonographic marker for the first trimester of gestation, in the detection of adverse fetal outcome, especially serious malformations. The ductus venosus was able to diminish the false-positive result in comparison to the isolated use of the nuchal translucency thickness, improving considerably the positive predictive value of the test.