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Prenatal imaging of ductus venosus agenesis using 4D ultrasound with a matrix array transducer

Prenatal imaging of ductus venosus agenesis using 4D ultrasound with a matrix array transducer
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  Letters to the Editor  477 sonographic detection of any abnormalities, and thepregnancy continued uneventfully. Elective Cesareansection was performed at 39 weeks (the woman’s firstchild was also delivered by Cesarean section) and a boyweighing 3200 g was delivered. Isolated cleft soft palatewas diagnosed after birth.After recent recognition of the use of anterior axial3D reconstruction rendering to assess the normality of the fetal palate 6 , the stored volumes of the fetal facewere re-examined using 4D View software (GE MedicalSystems), which includes static volume contrast imaging(VCI) 7 . They were compared with the stored volumesof three other fetuses, which were obtained in thecourse of second-trimester screening for anomalies, withknown outcomes of normal neonatal facial anatomy. Thefetus with the postnatal diagnosis of cleft soft palateshowed distinct sonographic features in comparisonto the normal fetuses. An incisure in the posteriormargin of the mildly echogenic tissues behind theposterior bony palate was evident in the case of cleft soft palate (Figure 1), but was absent in theother cases, in which the margin appeared continuous(Figure 2).In this high-risk case, although real-time 2D sonog-raphy did not reveal any sign of cleft soft palate, oncethe presence of neonatal cleft soft palate was knownthe study of stored volumes yielded images suggestiveof the condition. Campbell  et al  ., using the ‘reverse face3D view’ technique, identified a cleft soft palate in thestored volumes of a high-risk fetus taken at 20 weeks,after the presence of the malformation had been con-firmed in the neonate. They did, however, raise someconcerns about the ‘overinterpretation’ of images 5 . Simi-lar doubts might be relevant to our findings, but this caseadds to the evidence that 3D ultrasound, with offlineanalysis of stored volumes, has the potential to pre-natally diagnose isolated cleft soft palate in fetuses athigh risk.M. A. Zoppi, R. M. Ibba, C. Axiana and G. Monni* Department of Obstetrics and Gynecology,Ospedale Microcitemico, Via Jenner,Cagliari, CA 09121, Italy*Correspondence.(e-mail: DOI:  10.1002/uog.5286Published online 5 March 2008 References 1. Stoll C, Dott B, Alembik Y, Roth MP. Evaluation of prenataldiagnosis of cleft lip/palate by foetal ultrasonographic examina-tion.  Ann Genet   2000;  43 : 11–14.2. Cash C, Set P, Coleman N. The accuracy of antenatal ultrasoundin the detection of facial clefts in low-risk screening population. Ultrasound Obstet Gynecol   2001;  18 : 432–436.3. Benacerraf BR, Sadow PM, Barnewolt CE, Estroff JA. Cleft of the secondary palate without cleft lip diagnosed with threedimensional ultrasound and magnetic resonance imaging in afetus with Fryn’s syndrome.  Ultrasound Obstet Gynecol   2006; 27 : 566–570.4. Rotten D, Levaillant JM. Two- and three-dimensional sono-graphic assessment of the fetal face. 2. Analysis of cleft lip,alveolus and palate.  Ultrasound Obstet Gynecol   2004;  24 :402–411.5. Campbell S, Lees C, Moscoso G, Hall P. Ultrasound antenataldiagnosis of cleft palate by a new technique: the 3D ‘reverse face’view.  Ultrasound Obstet Gynecol   2005;  25 : 12–18.6. Faure JM, Captier G, Baumler M, Boulot P. Sonographic assess-ment of normal fetal palate using three-dimensional imag-ing: a new technique.  Ultrasound Obstet Gynecol   2007;  29 :159–165.7. Pilu G Segata M. A novel technique for visualization of thenormal and cleft fetal secondary palate: angle insonation andthree dimensional ultrasound.  Ultrasound Obstet Gynecol   2007; 29 : 166–169.8. Monni G, Ibba RM, Olla G, Cao A, Crisponi G. Color Dopplerultrasound and prenatal diagnosis of cleft palate.  J ClinUltrasound   1995;  23 : 189–191. Prenatal imaging of ductus venosus agenesis using4D ultrasound with a matrix array transducer A 22-year-old woman, gravida 2, had had a Cesareansection for breech presentation at term in her previouspregnancy. After referral for a suspected fetal pericardialeffusionadetailedultrasoundexaminationwasperformedat 21 + 5 weeks using an iU-22 ultrasound system(Philips, Bothell, WA, USA) equipped with a 1–3-MHz  × 3–1 matrix array transducer. Mild cardiomegalyand marked left cardiac axis deviation were observed.The fossa ovalis was widely patent, and the flapvalve was not seen clearly. The umbilical vein had anabnormal course: after entering the fetal abdomen, itran between the liver and the right abdominal wall,crossing the diaphragm and connecting directly to theright atrium. No ductus venosus was seen, while theportal vein appeared normal. Matrix array biplaneimaging modality easily allowed demonstration of thefour-chamber views, the abnormal connection of theumbilical vein to the right atrium, and normal superiorand inferior venae cavae (Figure 1, Videoclip S1). Real-time three-dimensional (3D) ultrasonography allowed thefurther delineation of the arrangement of the venousreturns connecting to the right atrium, to demonstratethe abnormal connection of the umbilical vein to theright atrial wall, and to estimate its relative size (Figure 2,Videoclip S2). Normal right and middle hepatic veinscould be traced, while the left could not be clearlyidentified. Karyotyping following cordocentesis revealeda normal male karyotype. Mutations of the  PTPN11 gene were excluded. At 37 weeks’ gestation, owing tothe onset of uterine contractions and maternal choicefor repeat abdominal delivery, a 3100-g infant wasdelivered by Cesarean section. Postnatally, significantblood shunting through the foramen ovale persisted, andright ventricular function was reduced. Hypoplasia of theleft hepatic lobe was diagnosed, but global liver functionwas normal. Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.  Ultrasound Obstet Gynecol   2008;  31 : 476–483.  478  Letters to the Editor Figure 1  Matrix array biplane ultrasound image during systole (a)and diastole (b). The left side of each image shows a four-chamberview, and the right half shows a sagittal plane demonstrating theabnormal connection of the umbilical vein to the right atrium, andnormal superior and inferior venae cavae (arrows). Ao, aorta;LA, left atrium; LV, left ventricle; RA, right atrium; RV, rightventricle; UV, umbilical vein. Figure 2  Still frame from real-time three-dimensional ultrasoundimaging demonstrating the abnormal connection of the umbilicalvein to the right atrial wall. IVC, inferior vena cava; LA, left atrium;RA, right atrium; SVC, superior vena cava; UV, umbilical vein. Absence of the ductus venosus is a rare butwell described abnormality the prognosis of which isdetermined by its association with hydrops and structuralor chromosomal abnormalities 1–3 . An association withNoonan’s syndrome has also been described 3 , andmutations of the  PTPN11  gene can be detected in asubstantial proportion of affected individuals 4 . In thepresent case, the diagnosis of absence of the ductusvenosus wasmade at21 weeks’gestationandrefinedwiththe help of four-dimensional (4D) ultrasound 5–10 . Weemployed two imaging modalities of 4D data obtainablewith matrix array transducers – biplane imaging and real-time 3D imaging. Biplane imaging allowed us to definethe anatomy of the four-chamber view, and umbilical andsystemic venous return using a single datum acquisition,by contemporaneously displaying two properly angledsection planes (Figure 1). Real-time 3D imaging provedsuperior to conventional two-dimensional imaging indepicting the anatomy of the right atrial surface andthe connection of the umbilical vein (Figure 2).In summary, we describe here for the firsttime a case of agenesis of the ductus venosusimaged with a matrix-array transducer. The impactof this technology in the clinical management of vascular and cardiac abnormalities has yet to bedefined.F. Taddei*†, M. Signorelli†, F. Prefumo†,L. Franceschetti† M. Marasini‡ and C. Groli‡† Department of Obstetrics and Gynaecology,University of Brescia and   ‡ Department of PaediatricCardiology, Institute G. Gaslini, Genova,Italy*Correspondence.(e-mail: DOI:  10.1002/uog.5281 References 1. Hofstaetter C, Plath H, Hansmann M. Prenatal diagnosis of abnormalities of the fetal venous system.  Ultrasound Obstet Gynecol   2000;  15 : 231–241.2. Contratti G, Banzi C, Ghi T, Perolo A, Pilu G, Visentin A.Absence of the ductus venosus: report of 10 new cases andreview of the literature.  Ultrasound Obstet Gynecol   2001;  18 :605–609.3. Volpe P, Marasini M, Caruso G, Lituania M, Marzullo A,Volpe G, Gentile M. Prenatal diagnosis of ductus venosus age-nesis and its association with cytogenetic/congenital anomalies. Prenat Diagn  2002;  22 : 995–1000.4. Tartaglia M,Gelb BD.Noonansyndromeandrelateddisorders:genetics and pathogenesis.  Ann Rev Genomics Hum Genet  2005;  6 : 45–68.5. Scharf A, Geka F, Steinborn A, Frey H, Schlemmer A, Sohn C.3D real-time imaging of the fetal heart.  Fetal Diagn Ther  2000; 15 : 267–274.6. Deng J, Sullivan ID, Yates R, Vogel M, McDonald D, Lin-ney AD, Rodeck CH, Anderson RH. Real-time three-dimensional fetal echocardiography – optimal imaging win-dows.  Ultrasound Med Biol   2002;  28 : 1099–1105.7. Maulik D, Nanda NC, Singh V, Dod H, Vengala S, Sinha A,Sidhu MS, Khanna D, Lysikiewicz A, Sicuranza G, Modh N.Live three-dimensional echocardiography of the human fetus. Echocardiography  2003;  20 : 715–721.8. Acar P, Dulac Y, Taktak A, Abadir S. Real-time three-dimensional fetal echocardiography using matrix probe.  Prenat Diagn  2005;  25 : 370–375.9. Sklansky M,Miller D,Devore G,Kung G,Pretorius D,Wong P,Chang RK. Prenatal screening for congenital heart diseaseCopyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.  Ultrasound Obstet Gynecol   2008;  31 : 476–483.  Letters to the Editor  479 using real-time three-dimensional echocardiography and anovel ‘sweep volume’ acquisition technique.  Ultrasound Obstet Gynecol   2005;  25 : 435–443.10. Goncalves LF, Espinoza J, Kusanovic JP, Lee W, Nien JK,Santolaya-Forgas J, Mari G, Treadwell MC, Romero R. Appli-cations of 2-dimensional matrix array for 3- and 4-dimensionalexamination of the fetus: a pictorial essay.  J Ultrasound Med  2006;  25 : 745–755. SUPPLEMENTARY MATERIAL ON THEINTERNET The following material is available from the Jour-nal homepage: jpages/0960-7692/suppmat (restricted access) Videoclip S1  Real-time matrix array biplaneimaging. The left half of the screen shows afour-chamber view, the right half a sagittal planedemonstrating the abnormal connection of theumbilical vein to the right atrium, and normalsuperior and inferior venae cavae. Videoclip S2  Real-time three-dimensional ultra-sound demonstrating the abnormal connection of the umbilical vein to the right atrial wall. Recurrent congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia (CPL) is a raredevelopmental disorder of the lung that includes lym-phatic cysts in the subpleural, interlobular, perivascularand peribronchial connective tissue. It is a rare causeof fetal hydrops, and is usually lethal in the neonatalperiod 1 . Familial CPL is very uncommon, with only sixpreviously reported cases, and may represent a distinctnosological entity. Prenatal detection largely relies onidentification of the non-specific findings of hydrothoraxand hydrops.We report two cases of CPL in consecutive pregnancies.A 29-year-old primigravida was referred to us at22 weeks’ gestation for fetal bilateral pleural effusionwith ascites. Her medical history was unremarkable.Ultrasound examination of the fetus revealed nomorphological anomaly and normal peak systolic velocityin the middle cerebral artery (indicating absence of anemia) but absence of flow in the ductus venosusduring atrial contraction. At 23 weeks’ gestation pleuralfluid (52 mL) was removed and amniotic fluid samplingrevealed a normal karyotype (46,XX) and no metabolicdisease. Screening for infectious diseases ( Toxoplasma gondii ; other viruses; rubella; cytomegalovirus; andherpes simplex (TORCH)) was negative. A recurrenceof pleural effusion warranted bilateral thoracoamnioticshunting (Figure 1) at 25 weeks’ gestation. Ultrasoundfollow-up revealed multiple pleural trabeculae (Figure 2).Rupture of membranes occurred at 26 weeks’ gestationand was complicated by chorioamnionitis. A stillborn Figure 1  Transverse view of the thorax showing bilateralthoracoamniotic shunting in a 25-week fetus with pleural effusion. Figure 2  Transverse view of the thorax showing multiple pleuraltrabeculae in the 25-week fetus. female infant was delivered at 27 weeks weighing 1170 g.Necropsy revealed hypoplastic lungs and pulmonarylymphangiectasia.The woman’s second pregnancy began 3 years later.Mild ascites appeared at 16 weeks’ gestation and fetalhydrops occurred at 18 weeks. The parents opted fortermination of pregnancy. Necropsy revealed diffuseCPL associated with mesenteric, renal and cervicallymphangiectasia.CPL, chylothorax, and lymphedema are manifestationsof lymphatic abnormalities involving structural anddevelopmental changes of the lymphatic vessels 1 . CPL islikelytocausefetalhydropsortoinducelethalrespiratorydistressduringtheneonatalperiod.WhenCPLisrestrictedto a small area, clinical manifestations can occur later andconsist of increased respiratory frequency, coughing andrecurrent wheezing. This condition is usually isolatedand sporadic 2 . Nevertheless many genetic syndromesincluding diffuse lymphangiectasia have been described, Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.  Ultrasound Obstet Gynecol   2008;  31 : 476–483.
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