Vena umbilical drenando directamente a la aurícula derecha: Informe de un caso

RESUMEN La agenesia de ductus venoso es una afección infrecuente asociada con resultados perinatales adversos. Se presenta el caso de un feto con 23,4 semanas estudiado en el servicio de Cardiología Fetal del Cardiocentro Pediátrico William Soler, donde se le realizó estudio ecocardiográfico que demostró la presencia de cardiomegalia con predominio de cavidades derechas en la vista transversal de cuatro cámaras y, al realizar un corte longitudinal del feto, con uso del Doppler color superpuesto a la imagen bidimensional, se definió el recorrido de la vena umbilical drenando directamente en la aurícula derecha. Al recién nacido se le realizó una tomografía y se diagnosticó la presencia de defectos digestivos congénitos. Ante la sospecha de ausencia de ductus venoso resulta importante precisar la variante de drenaje, identificar «microarreglos» y buscar malformaciones estructurales y enfermedades genéticas, ya que el pronóstico dependerá de todos estos factores.

ABSTRACT The ductus venosus agenesis is a rare condition associated with adverse perinatal outcomes. We present the case of a fetus of 23.4 weeks that was studied at the Department of Fetal Cardiology in the Cardiocentro Pediátrico William Soler. The four-chamber cross-sectional view echocardiogram showed cardiomegaly with a predominance of right chambers. After performing a longitudinal section of the fetus by color Doppler superimposed on the two-dimensional image, we could trace the course of the umbilical vein draining directly into the right atrium. The newborn underwent a CT scan and the presence of congenital digestive defects was diagnosed. In the case of suspected absence of ductus venosus it is important to determine the drainage variant, identify "microarrays", and look for structural malformations and genetic diseases since prognosis will depend on all these factors.

Application of fetal ductus venous hemodynamics in screening of chromosomal abnormalities / 吉林大学学报(医学版)

Objective:To detect the blood flow sepectrum of fetal ductus venosus (DV) with color Doppler ultrasound, and to explore the application of the fetal DV in screening the chromosome abnormalities.Methods:The blood flow spectra of fetal DV in antenatal examination normal group (320cases, with 11-40weeks of gestation) and antenatal examination abnormal group (48cases, within 11-35weeks of gestation) were detected with color Doppler and pulse Doppler ultrasound, and chromosome examination was performed in abnormal group.The fetal DV blood flow patterns (S wave, D wave, a wave) were observed, and karyotype analysis was performed in abnormal group.Results:The normal Doppler spectrum of the DV in fetuses showed the same three-phase waves while the abnormal Doppler spectrum of the DV in fetuses showed a wave reserved or absented.A total of 48cases of chromosome in abnormal group were examined;12cases of chromosome abnormality were found in this study (10cases of DV abnormality and 2cases of DV normality) .A total of 36cases of normal chromosomes were found which (11cases of abnormal DV and 25cases of normal DV) .The abnormal detection rate of DV blood flow spectrum in chromosome abnormal group was higher than that in chromosome normal group (χ2=9.723, P=0.002) .Conclusion:The abnormality of fetal DV blood flow spectrum can increase the detection rate of chromosome abnormalities and ultrasonography could be used as the primary basis for screening the chromosome abnormality in early pregnancy..

Prenatal ultrasonographic diagnosis of the fetal ductus venosus abormalities / 中华超声影像学杂志

Objective To explore the prenatal ultrasound image features and clinical significance of fetal ductus venosus abormalities . Methods Fifteen fetuses with ductus venosus abormalities diagnosed by prenatal ultrasonography at Peking University T hird Hospital were retrospective review . T he prenatal findings ,umbilical shunting type ,perinatal outcomes ,and autopsy reports were analyzed . Results Fourteen fetuses were found with absence of ductus venosus . In 6 fetuses the umbilical vein connected to the portal vein ,5 fetuses the umbilical vein connected to the inferior vena cava and 3 fetuses the umbilical vein connected to the right atrium . T he remaining 1 fetus was found obliteration of ductus venosus . Absence of ductus venous showed no normal ductus venous and the umbilical vein almost always drained directly into portal vein ,inferior vena cava or right atrium . Obliteration of ductus venous showed normal ductus venous was replaced by a tiny echogenic string without blood flow . T hree cases had intracardiac and extracardiac abnormalities ; 4 cases had extracardiac abnormalities only ; 8 of these ,ductus venosus abormality were isolated . T wo cases had trisomy 21 syndrome . Four patients underwent legal termination of pregnancy ; 2 were intrauterine fetal death ; and 8 carried to term wit normal outcome ; the remaining one underwent operation due to extracardiac abnormality and postoperative course was uneventful . Conclusions Prenatal ultrasound can be used to diagnose fetal ductus venosus abormalities . Hemodynamic depends on umbilical venous drainage site and diameter . T he prognosis for this group of anomalies depends on the chromosomal abnormalities and additional findings . Chromosome and ultrasonic monitoring are suggested for following pregnancy .

Papel do Doppler do ducto venoso na restrição de crescimento intrauterino / Ductus venosus Doppler assessment in intrauterine growth restriction

Objetivo: O crescimento intrauterino restrito (CIUR) por insuficiência placentária persiste como grande desafio obstétrico. A interrupção da gestação representa a única estratégia de condução e baseia-se na predição de desfechos adversos. O Doppler tem valor reconhecido na avaliação seriada das alterações circulatórias nesses fetos, em geral sequenciais e proporcionais à gravidade do insulto hipóxico. Este estudo objetiva revisar as evidências do papel do Doppler de ducto venoso (DV) na predição de morbimortalidade perinatal em gestações complicadas por CIUR placentário grave e precoce. Métodos: Realizou-se revisão narrativa, com busca de artigos publicados nos últimos 10 anos nas bases Medline/PubMed, Lilacs e Scielo, sendo encontradas 132 referências. Pesquisas com animais e gestações múltiplas foram excluídas. Dos 115 artigos selecionados, 34 foram excluídos por inadequação ao tema. A revisão baseou-se nas demais 81 referências, além de trabalhos de reconhecida relevância no tema. Resultados: Estudos demonstram evidência consistente do papel do Doppler de DV na avaliação de fetos com CIUR, com bom valor preditivo para acidemia fetal e desfecho perinatal adverso. As principais estratégias de monitorização se baseiam na combinação do Doppler de vasos arteriais/venosos e parâmetros biofísicos, mas o Doppler de DV seria o melhor parâmetro isolado para predição de comprometimento fetal grave. Conclusão: A incorporação do Doppler de DV na monitorização de fetos com CIUR grave e precoce é capaz de predizer desfechos perinatais críticos. A avaliação de múltiplos vasos fetais parece aumentar a acurácia, porém não há evidência para embasar a definição de protocolos para o manejo clínico.(AU)

Objective: Intrauterine growth restriction (IUGR) due to early onset placental insufficiency remains to be a great challenge in obstetrical practice. Delivery is still the only available strategy of management, and timing such intervention depends on prediction of adverse outcomes. Dopplervelocimetry studies have recognized value in the evaluation of the sequential hemodynamic changes that are stablished in the arterial and venous circulation of these fetuses, which correlate with the severity of hypoxemic insult. This study aims to review evidence on ductus venosus (DV) Doppler`s role as a predictor of perinatal outcome in pregnancies complicated by severe early onset IUGR. Methods: A Medline/PubMed, Lilacs and Scielo search was performed to identify original articles and systematic reviews published in the last 10 years. Eighty-one references were included in this review, in addition to other papers of recognized relevance in the subject. Results: Studies demonstrate consistent evidence on DV Doppler`s role in the longitudinal evaluation of IUGR fetuses, with adequate predictive value for fetal acidemia and adverse outcome. Monitoring strategies are usually based on a combination of arterial and venous Doppler assessment, in addition to biophysical parameters, but DV Doppler seems to be the best single parameter for prediction of severe fetal compromise. Conclusion: Monitoring of fetuses with severe early-onset IUGR through DV Doppler is able to predict critical perinatal outcomes. Evaluation of multiple fetal vessels seems to increase accuracy of prediction, but to this moment there is not enough evidence to recommend protocols of management.(AU)

Change rule of ductus venosus blood flow spectrum of normal fetal of 11-40 weeks and its clinical significance / 吉林大学学报(医学版)

Objective: To explore the correct test ways of the ductus venosus (DV) blood flow spectrum of the normal fetal and the rule of changes of the normal fetal DV blood flow spectrum along with gestational week, and to establish the reference ranges of the parameters of blood flow. Methods: A total of 320 cases of single fetal pregnant women within 11-40 weeks were selected as the objects. Using color doppler echocardiography, the ventricular systolic peak velocity (SV), atrial systolic trough (aV), pulse index (PD and resistance index (RI) were measured, and the ratio of ventricular systolic peak velocity trough ratio (S/a) from ultrasonic standard section was calculated. All of these were analysed statistically. Results: The doppler spectrum of normal fetal DV blood flow showed the same three-phase waves, SV was increased with the increase of gestational age (F=27. 00, P=0.000), and aV was elevated with the increase of gestational age (F=389. 81, P = 0.000), while PI (F= 65.41, P=0.000), RI(F=58.82, P=0. 000) and S/a ratio (F=47.79, P=0. 000) were decreased with the increase of gestational age. Conclusion: The performance of color Doppler flow imaging of normal fetal DV showed that the blood flow peak speed is increased along with the increase of gestational age and PI, RI and S/a are reduced with the increase of gestational age, and RI has the largest decline, which has important diagnosis value.

Change rule of ductus venosus blood flow spectrum of normal fetal of 11-40 weeks and its clinical significance / 吉林大学学报(医学版)

Objective:To explore the correct test ways of the ductus venosus (DV) blood flow spectrum of the normal fetal and the rule of changes of the normal fetal DV blood flow spectrum along with gestational week,and to establish the reference ranges of the parameters of blood flow.Methods:A total of 320 cases of single fetal pregnant women within 11-40 weeks were selected as the objects.Using color doppler echocardiography,the ventricular systolic peak velocity (SV),atrial systolic trough (aV),pulse index (PI) and resistance index (RI)were measured,and the ratio of ventricular systolic peak velocity trough ratio (S/a) from ultrasonic standard section was calculated.All of these were analysed statistically.Results:The doppler spectrum of normal fetal DVblood flow showed the same three-phase waves,SV was increased with the increase of gestational age (F=27.00,P=0.000),and aV was elevated with the increase of gestational age (F=389.81,P=0.000),while PI (F=65.41,P=0.000),RI (F=58.82,P=0.000) andS/a ratio (F=47.79,P=0.000) were decreased with the increase of gestational age.Conclusion:The performance of color Doppler flow imaging of normal fetal DV showed that the blood flow peak speed is increased along with the increase of gestational age and PI,RI and S/a are reduced with the increase of gestational age,and RI has the largest decline,which has important diagnosis value.

Study of Doppler blood flow spectrum of ductus venosus in monochorionic diamniotic twins with selective intrauterine growth restricted / 中华超声影像学杂志

Objective To evaluate Doppler spectrum of ductus venosus(DV) in selective intrauterine growth restricted(sIUGR) pregnancies.Methods Thirty-five sIUGR pregnancies and 35 normal single pregnancies with same gestational week were enrolled,there were 10 sIUGR Ⅰ,13 sIUGR Ⅱ and 12 sIUGR Ⅲ in sIUGR.Spectrum of ductus venosus,such as DV S wave,DV D wave,DV A wave,DV PI,DV PLI and S/A were assessed.Results ① There was no significantly difference in spectrum of ductus venosus between bigger of sIUGR,smaller of sIUGR Ⅰ with normal fetus (all P ＞0.05).② Compared with normal fetus,DV-PI,DV-PLI and S/A were significant higher in smaller of sIUGR Ⅱ and sIUGR Ⅲ (P ＜0.05);DV-S wave,and DV-D wave showed no significantly difference in smaller of sIUGR Ⅱ and sIUGRⅢ (P ＞0.05).Conclusions Spectrum of ductus venosus in bigger of sIUGR and smaller of sIUGR Ⅰ are mainly normal,and nearly in good condition in utero,inversely,abnormal spectrum of ductus venosus commonly exists in smaller of sIUGR Ⅱ and sIUGR Ⅲ,and supervision should be done carefully in these group.

Agenesia del ductus venoso: dos casos clínicos tipo / Ductus venosus agenesis: two tipical clinical cases

La agenesia del ductus venoso (ADV) no es infrecuente. Tiene dos manifestaciones clínicas que presentan diferentes pronósticos. En la ausencia del ductus venoso, el flujo venoso empleará caminos alternativos. Hay dos posibilidades. En una de ellas habrá un shunt extrahepático, y se caracterizará por sobrecarga de volumen sistémico y tendencia a la insuficiencia cardiaca y en otra habrá un shunt intrahepático, con drenaje al seno portal, que presenta mejor pronóstico. Es necesario descartar anomalías estructurales asociadas y cromosopatías, ya que de ello depende el pronóstico. Especialmente importante es analizar el sistema venoso biliar. Presentamos dos casos clínicos con cada una de estas variantes, ninguna de la cuales tuvo asociación a cromosopatías.

The ductus venosus agnesis is not infrequent. It has two forms of presentation, each with different prognosis each. In the absence of the ductus venosus, the flow needs to find new pathways. There are two options. The first is by an extrahepatic shunt or portosystemic bypass, and the other by an intrahepatic shunt that drains to the portal system. The last one has a better prognosis. In both cases, It is especially important to look for associated structural and chromosomal anomalies, as to determine prognosis. It is especially important is to explore the biliary venous system. In this article, we present two clinical cases, with each one of the variants, without association to chromosomal diseases.

Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21 / Role of first trimester secondary ultrasound markers for trisomy 21 detection

OBJETIVO: Analizar los resultados de los marcadores ecográficos secundarios (hueso nasal, onda a del ductus venoso y regurgitación tricuspídea) y valorar su efectividad para la detección de trisomía 21 y su utilidad para la reducción del número de pruebas invasivas. MÉTODOS: Tras la realización del test combinado de primer trimestre a toda paciente con un riesgo entre 1/101-1/1000 se realizó la valoración de los marcadores secundarios. RESULTADOS: Desde Enero de 2014 a Mayo de 2015 se realizaron 2.660 test combinados del primer trimestre valorándose la edad materna, la traslucencia nucal y la PAPP-A y ßhCG, teniendo una sensibilidad del 90% y una tasa de falsos positivos del 3,2%. Hubo 10 fetos con trisomía 21. La sensibilidad de hueso nasal, ductus venoso y regurgitación tricuspídea fue del 22,2%, 50% y 50% y la especificidad del 99,8%, 96,9% y 98,8% respectivamente. La sensibilidad global del test contingente fue del 90%, con una reducción de la tasa de falsos positivos al 1,6%, lo que se reduciría de 171 a 148 el número de amniocentesis. CONCLUSIÓN: El test contingente es una buena herramienta para reducir la tasa de falsos positivos respecto al test combinado sin disminuir la tasa de detección y con ello reducir la tasa de pruebas invasivas.

AIMS: To analyze the results of the secondary sonographic markers (nasal bone, wave ductus venosus and tricuspid regurgitation) and evaluate its effectiveness for the detection of trisomy 21 and thus reduce the number of invasive tests. METHODS: After completing the first trimester combined test, all patients with a risk between 1/101-1/1000 were evaluated the secondary sonographic markers. RESULTS: From January 2014 to May 2015 2660 combined test being assessed maternal age, nuchal translucency and PAPP-A and ßhCG were performed, with a sensitivity of 90% and a false positive rate of 3.2%. 10 fetuses with trisomy 21 were observed. The sensitivity of nasal bone, ductus venosus and tricuspid regurgitation was 22.2%, 50% and 50% and specificity was 99.8%, 96.9% and 98.8% respectively. The overall sensitivity of contingent test was 90%, with a reduction in false positive rate to 1.6%, which would decrease the number of amniocentesis from 171 to 148. CONCLUSION: The contingent test is a good tool to reduce the rate of false positives with respect to the combined test without decreasing the detection rate and thereby reduce the rate of invasive testing.

Estimation of various color doppler indices in low and high risk preterm pregnancies.

Background: Fetal arterial and venous doppler studies help in identification of the foetuses at risk for perinatal complications and may help in prediction of the fetal acid base status or neonatal complications. Aim: To estimate various color doppler indices in low and high risk preterm pregnancies. Material and methods: Study comprised of 60 patients which was an observational,descriptive hospital based study. The study was divided into 2 groups: High risk group (n=30) and Low risk group (n=30). Color doppler scanners (Philips envisor HD7, HD9 and GE logic P5 ultrasound machine), wasused with 3.5 Mhz curvilinear array and following Doppler Velocimetry were assessed- Uterine artery, Umbilical artery, Middle cerebral artery, Umbilical vein, Uterine vein and Ductus Venosus. Results: Gestational age (in weeks)at examination was (31.89+2.69) in low rsk group as compared to (29.25+1.96) in high risk group. Gestational age (in weeks) at delivery was (36.2+1.78) in low risk group as compared to (29.83+1.86) in high risk group. In low risk group uterine artery doppler show decrease in PI, RI and S/D ratio with increasing gestation as compared to increasing PI,RI and S/ratio were seen (p<0.001). Conclusion: Doppler investigation of the fetal circulation play an important role in monitoring high risk pregnancies and thereby help to determine optimal time for delivery. Hence, the use of doppler provides information that is not readily obtained from more conventional test for fetal wellbeing. Therefore it has a role to play in management of high risk pregnancies.

An anomalous portal vein crossing the lesser sac and ending at the upper part of ductus venosus / 대한해부학회지

In serial sagittal sections of a fetus on week 9 (crown-rump length, 36 mm), we incidentally found absence of the usual portal vein through the hepatoduodenal ligament. Instead, an anomalous portal vein originated behind the pancreatic body, crossed the lesser sac and merged with the upper part of the ductus venosus. During the course across the lesser sac, the vein provided a deep notch of the liver caudate lobe (Spiegel's lobe). The hepatoduodenal ligament contained the hepatic artery, the common bile duct and, at the right posterior margin of the ligament, and a branch of the anomalous portal vein which communicated with the usual right branch of the portal vein at the hepatic hilum. The umbilical portion of the portal vein took a usual morphology and received the umbilical vein and gave off the ductus venosus. Although it seemed not to be described yet, the present anomalous portal vein was likely to be a persistent left vitelline vein. The hepatoduodenal ligament was unlikely to include the left vitelline vein in contrast to the usual concept.

Fetal Intra-abdominal Umbilical Vein Varix Complicated with Patent Ductus Venosus and Atrial Septal Defect / 대한주산의학회잡지

Umbilical vein varix has diverse clinical features and an unpredictable course during the pregnancy and/or perinatal period. We report a rare case of isolated fetal varix of the intra-abdominal umbilical vein, which was associated with fetal cardiomegaly. After birth, the umbilical vein varix remained with continuous blood flow through the patent ductus venosus. In addition, persistent cardiomegaly was complicated with an atrial septal defect.

Diagnóstico prenatal y evolución en fetos con agenesia de ductus venoso / Prenatal diagnosis and evolution in fetuses with ductus venosus agenesis

Antecedentes: El ductus venoso es una derivación vascular (shunt) presente en el feto que permite el paso de sangre oxigenada de la vena umbilical (VU) hacia la circulación coronaria y cerebral. Su agenesia se asocia con defectos cromosómicos, síndromes genéticos, defectos estructurales y complicaciones prenatales como crecimiento intrauterino retardado y muerte fetal. Resultados: Se analizaron 15 agenesias de ductus venoso (ADV) en gestaciones únicas entre enero de 2010 y diciembre de 2013. El 80 por ciento de ellas fueron diagnosticadas en la exploración rutinaria de la semana 12. Se realizó estudio de cariotipo en el 53 por ciento de los casos (8/15), bien por riesgo alto de cromosomopatía en el cribado combinado y/o translucencia nucal aumentada (75 por ciento) o malformaciones asociadas (25 por ciento). Sólo hubo un diagnóstico de trisomía 21 y postnatalmente de una microdelección del cromosoma 7. Realizaron interrupción legal del embarazo un total de 4 pacientes (por trisomía 21 o por alteraciones estructurales). Entre las 11 gestaciones restantes un 27 por ciento se diagnosticó RCIU, hubo una muerte neonatal a las 12 horas de vida por síndrome de aspiración meconial e hipertensión pulmonar. En un 60 por ciento se objetivó la presencia de un drenaje umbilicohepático y entre los 6 restantes con shunt portosistémico, 4 tenían conexión entre la VU y la VCI. Conclusión: La ADV es una anomalía infrecuente del sistema venoso fetal, de difícil diagnóstico y con mal pronóstico en aquellos casos en que se asocia con otros marcadores y/o anomalías estructurales que pueden aparecer tardíamente, por lo que debe realizarse un seguimiento adecuado.

Background: The ductus venosus (DV) is a unique shunt that allows direct passage of oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation by a preferential passage through the foramen ovale. DV agenesis (DVA) is associated with chromosomal abnormalities, genetic syndromes, structural defects and prenatal complications such as intrauterine growth retardation (IUGR) or even stillbirth. Results: We report 15 cases of DVA in singleton pregnancies between January 2010 and December 2013. 80 percent of them were diagnosed on routine examination during the 11-14 weeks scan. Karyotyping was performed in 53 percent of cases (8/15) by high risk of chromosomal abnormalities in the first trimester combined screening and/or an increased nuchal translucency thickness in 6/8 (75 percent), or associated malformations 2/8 (25 percent). There was only one fetus diagnosed of trisomy 21 by amniocentesis and another fetus was postnatally diagnosed of a microdeletion of chromosome 7. 4 patients performed legal abortions (the trisomy 21 and in 3 cases for severe structural malformations). Among the remaining 11 pregnancies, 3 (27 percent) were diagnosed with IUGR and there was a neonatal death at 12 hours of life for meconium aspiration syndrome and pulmonary hypertension. 60 percent of the fetus presented an intrahepatic drainage and among the remaining 6 with portosystemic shunt, in 4 a connection between the UV and the inferior vena cava was observed. Conclusion: DVA is a rare anomaly of the fetal venous system, difficult diagnosis and poor prognosis in cases associated with other markers and/or structural abnormalities that may even appear late. A detailed survey of fetal anatomy and follow up of these fetuses is necessary.

Changes of fetal ductus venosus flow waveform diabetes during pregnancy and its clinical significance / 中国基层医药

Objective To explore the changes and clinical significance of gestational diabetes mellitus in late pregnancy with fetal ductus venosus blood flow waveform parameters.Methods 23 cases of 24-40 gestational weeks gestational diabetes and 60 cases of normal fetus were selected,color Doppler ultrasonography in the venous catheter into the subarachnoid catheter blood flow waveform was applied to record,including the determination of blood flow parameters:ventricular peak systolic velocity ( DVS) ,left ventricular diastolic peak flow velocity ( DVD) ,atrial systol-ic peak velocity (DVA),and DVRI=(DVS-DVA)/DVS.Results DVS(42.72 ±3.63)cm/s,DVA (12.34 ± 3.11)cm/s and DVRI(0.49 ±0.08) of fetal ductus venosus gestational diabetes group and normal pregnancy group had significant difference (t=3.232,9.664,2.470,all P<0.05),especially the difference between the two groups of DVRI had statistically significant.Conclusion Color Doppler flow spectrum curve of ultrasonic detection of fetal duc-tus venosus have clinical significance in gestational diabetes mellitus.

Study on Doppler blood flow spectrums of umbilical artery and ductus venosus in fetus with arrhythmia by ultrasound / 中华超声影像学杂志

Objective To explore the clinical value of Doppler flow spectrums of umbilical artery and ductus venosus in fetus with arrhythmia by Doppler ultrasound in evaluating the fetal prognosis.Methods Umbilical artery and ductus venosus flow spectrums were obtained in a total of 796 pregnancies with gestation age between 16-41 weeks who were found abnormal heart rhythm by maternity auscultation,fetal electronic monitoring or ultrasound.All these fetuses were followed up by electrocardiography and echocardiography examination until the end of pregnancy and the pregnancy outcomes were recorded.Results Among 796 fetuses,136 cases of fetal arrhythmia were detected.There were 18 cases appeared with umbilical artery absent or reversed end-diastolic flow,and 9 cases with absent or reversed wave A.Among 18 fetuses with arrhythmia whose blood flow spectrums of umbilical artery were abnormal,twelve were compared with congenital heart disease.The proportion of fetal bradycardia associated with abnormal flow spectrums and congenital heart disease were higher than other types of arrhythmias.Conclusions Pregnancy outcome of the fetus with arrhythmias who appeared with normal umbilical artery and ductus venosus will be good,and conversely is poor.So Doppler flow spectrums of the fetal umbilical artery and ductus venosus is one of the important indicators in early intervention.

First Trimester Antenatal Ultrasonographic Screening for Aneuploidy - So Far So Good.

Ultrasound has become an integral component of obstetric care, with the vast majority of patients having at least one ultrasound examination during pregnancy. Recent advances in obstetric ultrasonography (USG) have increased its importance in managing pregnancies at risk for aneuploidy and structural abnormality. Antenatal screening of aneuploidy, particularly Down syndrome includes biochemical markers, USG and invasive tests like chorionic villus sampling (CVS) and amniocentesis. In this article, we review and compare these screening modalities with emphasis on USG. In light of current literature, we will discuss first trimester sonographic markers associated with aneuploidy viz. nuchal translucency (NT), fetal nasal bone and ductus venosus flow and their statistical as well as clinical significance in the detection of aneuploidy. We will review the current data and status of first trimester screening for aneuploidy.

Clinical efficiency of the measurement of fetal nuchal translucency and Doppler examination of ductus venosus as a screening tool for chromosomal abnormalities / 대한산부인과학회지

OBJECTIVE: To evaluate the efficiency of the measurement of fetal nuchal translucency (FNT) and ductus venosus Doppler examination (DV Doppler) as a screening tool for chromosomal abnormalities. METHODS: FNT measurement and DV Doppler wereperformed in 950 pregnancies between 11(+0)~13(+6) weeks' gestation. Chromosomal analysis was done when FNT was more than 3 mm and DV Doppler showed absent flow or reversed flow. The numbers of cases with increased FNT and abnormal DV Doppler were counted in the groups of abnormal and normal karyotype. RESULTS: Data were available in 912 pregnancies. 11 pregnancies showed abnormal karyotype (1.2%). In the 11 cases with abnormal karyotype,increased FNT was found in 8 cases with 72.7% sensitivity and abnormal DV Doppler was found in 5 cases with 45.4% sensitivity. In the 901 cases withnormal karyotype, increased FNT was found in 33 cases with 96.3% specificity and abnormal DV Doppler was found in 12 cases with 98.7% specificity. Positive predictive value was 19.5% in cases of increased FNT, 29.4% in cases of abnormal DV Doppler, and 44.4% in cases of increased FNT and abnormal DV Doppler both. CONCLUSION: There is no improvement in general screening for chromosomal abnormalities when FNT measurement and DV Doppler were performed together. But better specificity and positive predictive value for chromosomal abnormalities were found.

Marcadores ecográficos de cromosomopatías en el I trimestre de la gestación: ductus venoso / Ultrasound markers of chromosomal defects in the first trimester of pregnancy: ductus venosus

La evaluación Doppler del flujo en el ductus venoso en el primer trimestre ha venido a contribuir con información clínica relevante en las orientaciones a los padres. No sólo se mostró eficaz en el rastreo de anomalías cromosómicas, como la trisomía 21, disminuyendo la tasa de procedimientos invasivos, sino también en el rastreo de cardiopatías congénitas, redefiniendo el grupo de alto riesgo a ser sometido a ecocardiografía precoz. Por su parte, un flujo anormal en el ductus venoso asociado a la translucencia nucal aumentada en uno o en ambos fetos de un embarazo monocoriónico parece una combinación sensible para rastrear precozmente el síndrome de transfusión feto fetal. En todas estas situaciones, el ductus venoso se muestra un marcador eficaz de insuficiencia/disfunción cardíaca.

Doppler evaluation of the flow in the ductus venosus in the first trimester of pregnancy has contributed with clinical information relevant for parents counselling. Not only was effective in tracking chromosomal abnormalities such as trisomy 21, decreasing the rate of invasive procedures, but also in tracking congenital heart disease, redefining the high risk group to be subjected to early echocardiography. Also, an abnormal flow in the ductus venous linked to the nuchal translucency increased in one or both fetuses of a monochorionic pregnancy seem a sensitive combination to early trace the feto-fetal transfusion syndrome. In all these situations, the ductus venous shows to be an effective marker of cardiac dysfunction or insufficiency.

Estudo da translucência nucal, ducto venoso, osso nasal e idade materna na detecção de cromossomopatia fetal em uma população de alto risco / Study of nuchal translucency, ductus venosus, nasal bone and maternal age for detection of fetal chromosomal disorders in a high-risk population", "_i": "en

OBJETIVO: Avaliar a translucência nucal, o ducto venoso, o osso nasal e a idade materna > 35 anos como testes de rastreamento para aneuploidias entre 12 e 14 semanas de gestação em pacientes de alto risco. MATERIAIS E MÉTODOS: Estudo prospectivo observacional envolvendo 92 gestantes entre 12 e 14 semanas submetidas a biópsia de vilo corial por alto risco de trissomia, baseado na medida da translucência nucal (17,4 por cento) e idade materna >35 anos (78,3 por cento). Antes da biópsia de vilo corial, realizaram-se medida da translucência nucal, avaliação de fluxo no ducto venoso e identificação do osso nasal. Calcularam-se a sensibilidade, a especificidade, o valor preditivo positivo e o valor preditivo negativo para testes realizados em paralelo e em seqüência. RESULTADOS: Encontrou-se alteração cromossômica em 12 (13,5 por cento) fetos; 7 (58,3 por cento) apresentavam trissomia 21. Osso nasal foi identificado em todos os fetos com trissomia. Translucência nucal, ducto venoso e idade materna isolados mostraram baixa sensibilidade (41,67-58,33 por cento) e baixo valor preditivo positivo (10-45,45 por cento). A associação translucência nucal + ducto venoso + idade materna apresentou o melhor resultado (sensibilidade: 100 por cento; especificidade: 6,49 por cento; valor preditivo positivo: 14,29 por cento; valor preditivo negayivo: 100 por cento). CONCLUSÃO: Em gestantes com idade > 35 anos, a associação translucência nucal + ducto venoso mostra-se como a mais sensível para a indicação de procedimento invasivo.

OBJECTIVE: To evaluate fetal nuchal translucency, ductus venosus, nasal bone and maternal age > 35 years by means of aneuploidy screening between the 12th and 14th gestational weeks in a high-risk population. MATERIALS AND METHODS: Prospective, observational study involving 92 pregnant women at 12-14 gestational weeks, who were submitted to chorionic villus sampling because of high risk for trisomy 21 based on the measurement of nuchal translucency thickness (17.4 percent) or on maternal age > 35 years (78.3 percent). Before the chorionic villus sampling, fetal nuchal translucency thickness was measured, ductus venosus flow was evaluated and the nasal bone was identified. Sensitivity, specificity, positive predictive value and negative predictive value were calculated for tests in parallel and in sequence. RESULTS: Chromosomal abnormalities were found in 12 fetuses (13.5 percent); 7 (58.3 percent) were positive for trisomy 21. The nasal bone was present in all cases with chromosomal abnormalities. Isolated nuchal translucency, ductus venosus or maternal age showed low sensitivity (41.67-58.33 percent) and low positive predictive value (10-45.45 percent). Combined nuchal translucency + ductus venosus + maternal age showed the best results (100 percent sensitivity; 6.49 percent specificity; 14.29 percent positive predictive value; 100 percent negative predictive value). CONCLUSION: In pregnant women with >35 years of age, combined nuchal translucency + ductus venosus have showed the highest sensitivity as an indication for invasive procedure.

Relationship between hemodynamics changes of ductus venosus and inflammatory cytokines in the ovine fetus with systemic inflammatory response syndrome / 中华超声影像学杂志

Objective To study the hemodynamic characteristics of ductus venosus,and its relationship to inflammatory cytokines in ovine fetus with systemic inflammatory response syndrome.Methods Ten near-term fetal sheep radomly divided into two groups.Five of them were in experimental group,and five of them were in control group.All of the animals underwent abdominal cordocentesis guided by ultrasound at the term of 120-130 days,with a LPS injection at a dosage of 10 μg/kg of fetal weight in experimental group,and the same quantity of 0.9% NaCl solution in control.Doppler echocardiography were performed to determine hemodynamics changes of ductus venosus at 0.5 hour before the LPS injection,and at 1 hour,3 hours,6 hours after LPS injection.Meanwhile,fetal umbilical vein blood was sampled for ELISA essay of serum TNF-α and IL-6 at each of the above time points.Results In experimental group,the ductus venosus waveform PI values(DVPI),maximum velocity during cardiac ventricle systole(S)and during cardiac ventricle diastole(D),ductus venosus index(DVI),ductus venosus blood flow(DVQ),the ratio of S and ductus venous maximum velocity during atrial contracton(S/A),(S-A)/D increased with the time after LPS injection,and still significantly increased as compared with the control animals(all P＜0.05).A decreased with the time after LPS injection,and still significantly changed as compared with the controls(P＜0.05).And the ductus venosus diameter(DVD)had not obvious change(P＞0.05).There were significantly positive correlations between DVPI and TNF-α,IL-6(all P＜0.05),negative corelations between A and TNF-α,IL-6(all P＜0.05),and positive correlations between S wave,DVI,DVQ,D wave,S/A,(S-A)/D and IL-6(all P＜0.05),but not obvious relationships between S wave,DVI,DVQ,D wave,S/A,(S-A)/D and TNF-a(all P＞0.05).Condusions DVPI and A might be easy and useful quantitative parameters in the evaluation of fetal systemic inflammatory respome syndrome with LPS injection.