Sep 18, 2011 - Neonatal MS is even rarer, and rarer still is its prenatal ultrasound diagnosis .... (VCI-C) feature on a Voluson 730 Pro (General Electric, Medical.
18–22 September 2011, Los Angeles, CA, USA
OP32.05 Prenatal diagnosis of neonatal Marfan syndrome C. Gavilan, D. Escribano, I. Herraiz, E. Gomez Montes, J. Arbues, A. Galindo Izquierdo Fetal Medicine Unit. Obstetrics and Gynecology Department, Hospital Universitario ‘‘12 de Octubre’’, Madrid, Spain Marfan syndrome (MS) is a rare disease of the connective tissue. Neonatal MS is even rarer, and rarer still is its prenatal ultrasound diagnosis with 7 cases reported and only 1 surviving patient. We describe 2 new cases. Both had no relevant family history, had normal scans in the first half of pregnancy, were referred because of fetal cardiomegaly at 28 and 35 weeks respectively, and were delivered at term. Case 1: Fetal echocardiography showed severe cardiomegaly, dilation of the initial portion of the great vessels and mild prolapse of the atrioventricular (AV) valve leaflets. Postnatally, a marfanoid habitus was found and a moderate insufficiency of the AV and semilunar valves was also seen. The neonate was discharged on the 7th day and an angiotensin II receptor antagonist (Losartan) was prescribed to prevent aortic root dilation. Echocardiography at 2 months revealed severe AV valve insufficiency. Rapid worsening required AV valve surgical repair, but the patient died 5 days later. A heterozygous mutation of the fibrillin-1 (FBN1) gene was found. Case 2: Fetal echocardiography showed dilation of the outflow tracts, AV valve insufficiency and redundant AV cusps protruding in the atria during systole. Enlarged and hiperflexed hands and feet were observed. A scan 2 weeks later revealed aortic insufficiency. Postnatally, the same marfanoid habitus was noted. The patient was discharged at 31 days, with Losartan. Two weeks later the patient was readmitted, chest X-ray revealed severe cardiomegaly and emphysematous lungs, and death occurred soon after due to cardiorespiratory arrest. A new mutation of the FBN1 gene was found. The combination of cardiomegaly, enlargement of great vessels and multivalvular regurgitation in the second half of pregnancy may lead to suspect neonatal MF. These valve problems progress relentlessly, leading to heart failure and early death in most cases. This information may be helpful to provide the parents the most accurate counseling.
OP32.06 Prenatal diagnosis of Carpenter syndrome at 16 weeks: role of 3D ultrasound M. Begam1 , G. N. Bekdache1 , L. Al Gazali2 , H. Mirghani1,3 1
Fetal Medicine Unit, Tawam Hospital, Al Ain, United Arab Emirates; 2 Pediatrics, Faculty of Medicine and Health Sciences, Al Ain, United Arab Emirates; 3 Ob/Gyn Department, Faculty of Medicine and Health Sciences, Al Ain, United Arab Emirates Craniosynostosis is defined as the premature closure of the calvarial sutures and is a feature of many syndromes. Prenatal diagnosis of the syndromic association depends on associated anomalies and molecular analysis of fetal DNA. Abnormal skull shape is the first clue; the earliest reported was at 19 weeks. Carpenter syndrome (CS) is very rare autosomal recessive disorder. We are reporting a case of prenatal diagnosis of CS utilizing 3D ultrasound (3DUS) at 16 weeks of gestation that manifested with craniosynostosis in a family not at risk. A primigravida, first cousin marriage, was referred at 16 weeks of gestation due to marked subcutaneous edema and anomalies. Fetal assessment showed: nuchal thickness of 1.5 cm, abnormal head shape (trapezoid) with suspicion of craniosynostosis. 3D US on skeletal mode suggested premature fusion of metopic and also coronal sutures. It also showed dysmorphic facies- Proptosis, depressed nasal bridge, micrognathia, low set ears, midfacial hypoplasia resulting in abnormal profile. The associated anomalies
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were: huge omphalocele, bilateral club-like hands, bilateral talipes and cryptorchidism. There was preaxial polysyndactyly in all four limbs. Detailed echocardiography suggested pulmonary atresia with VSD. Karyotype indicated a normal cytogenetic male. These findings are highly suggestive of CS. TOP is not an option in United Arab Emirates. As the pregnancy progressed, fusion was evident in all the cranial sutures resulting in trigonocephaly. At 32 weeks, couple declined the option of induction of labor to avoid labor dystocia due to increasing head measurements. Repeated amniodrainage was needed due to polyhydramnios. She delivered by emergency Cesarean section at 35 weeks as anticipated. The baby died shortly after birth and the findings were confirmed postnatally. To our knowledge, this is the earliest prenatal diagnosis of craniosynostosis and Carpenter syndrome to date. This highlights the role of 3DUS in reaching the possible diagnosis which is important for counseling and management.
OP32.07 Subependymal heterotopia: US and MR diffusion tensor imaging B. Matarrelli1 , C. Briganti2 , R. Navarra2 , A. Tartaro2 , M. Caulo2 , C. Celentano1 1 2
Ob & Gyn, University of Chieti, Chieti, Italy; Radiodiagnostic Dept, University of Chieti, Chieti, Italy
A 38 y-old woman was referred for detailed US scan due to the presence of dilated cisterna magna. The measurement of 16 mm anechoic space in the posterior fossa was suggesting the diagnosis of a mega cisterna magna. In addition, lateral ventricles, albeit presenting normal width, demonstrated few small nodules protruding into the lateral ventricles. The patient underwent fetal MRI confirming at T1 and T2-weighted the ultrasound findings. Lateral ventricles presented normal width completing the diagnosis of SE. The pregnancy remained uneventful, and a C-section was performed at 38 completed weeks’ gestation giving birth a normal female baby. The neonatal period was clinically uneventful. Ultrasound scan confirmed enlarged cisterna magna and the small nodules protruding into the lateral ventricles. The neonate control at 12 months was normal. After extensive genetic counselling a buccal swab sampling for specific analysis of Xq28 was indicated whereas the parents opted to avoid genetic tests. Two weeks after the delivery, a MRI study of the brain was performed using a 3T system including anatomical T1 and T2-weighted sequences which demonstrated the presence of multiple, subependymal nodules. In addition DTI was performed using 32-different diffusion gradient directions and processed using the FSL software. The MD and RD were significantly higher in the neonate with SE than in normal neonates. The FA was slightly but not significantly reduced in the neonate with SE compared with normal neonates. In this study we demonstrated that a fetus/neonate with SE has a microstructurally altered white matter. We consider the increase of the MD, RD and AD values in SE neonate as the in vivo expression of the impairment of the radial glial fibers which underlies the arrested neuronal migration.
OP33: ASSURING QUALITY IN ULTRASOUND OP33.01 ˆA different and even better way of doing your measures on 4D view software C. Simioni, L. Martinez, L. Nardozza, E. Araujo Junior, A. F. Moron ˜ Paulo, Brazil Fetal Medicine, UNIFESP, Sao Objectives: Compare two ways of off-line measurements on threedimensional (3D) ultrasound volumes on 4D View software (General
ˆ This abstract has been shortlisted as a finalist for the Alfred Kratochwil 3D abstract award. The winner will be announced at the closing ceremony.
Ultrasound in Obstetrics & Gynecology 2011; 38 (Suppl. 1): 56–167
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Electric, Medical Systems Kretz, Zipf, Austria): standard optical mouse versus digital pen tablet, a tool used by designers to draw on the computer. Methods: This study enrolled 60 patients with singleton pregnancies, with healthy fetuses from 20 to 34 weeks of pregnancy. The measure of the vertebral body area (from L1 to S2) on a volume of 3D ultrasound acquired using Volume Contrast Imaging C-plane (VCI-C) feature on a Voluson 730 Pro (General Electric, Medical Systems Kretz, Zipf, Austria) was performed using both a standard optical mouse (Microsoft 200 model, 500 dpi) and a digital pen tablet (Intuos 4 from Wacon, 5080 lpi – lines per inch, pen accuracy of ±0.01 in). The measures were done contouring the shape of the vertebral body. Exams were performed by only one experienced observer in Fetal Medicine. Agreement of the measurement techniques was evaluated with intraclass correlation coefficients (ICC). Results: The area of 420 vertebral bodies were measured (60 for each level from L1 to S2) offline on 4D View software, two times with the mouse and two times with the digital pen tablet. ICC of each pair of measures for all levels were better for the digital pen tablet (0.934 to 0.990) than for the mouse (0.910 to 0.982). Conclusions: studies with 3D image volumes are increasingly a routine part of Fetal Medicine specialists. We are used to work with the standard optical mouse on computer, but measuring the vertebral bodies, that have an irregular shape, the digital pen tablet showed to be more reproducible, comfortable, less tiring over long periods of use, and even nicer to work. It really is a good alternative to standard optical mouse.
OP33.02 The activities which make up a routine obstetric ultrasound examination T. Chudleigh, S. Howes, J. Nelder, S. Cumming The Rosie Ultrasound Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom Objectives: Ultrasound examinations are performed in the UK by Band 7 sonographers. Clinical administration is typically provided by staff employed on Band 2. A study was undertaken to identify the various activities which make up a routine obstetric ultrasound examination and the percentage time each activity takes within the appointment interval. The results were evaluated in terms of workforce planning. Methods: In this teaching hospital all activities undertaken during the appointment time for a routine obstetric ultrasound examination are performed by sonographers. The activities of seven sonographers delivering the service over five working days were noted. Dating, nuchal translucency, anomaly and growth scans were performed. The time, in minutes, required to perform each task within the appointment interval was recorded and its percentage time calculated. Results: Eight activities were identified during 5449 minutes of recorded activity. Explaining the purpose of the scan took 6.6% (361 minutes) of the appointment time while performing the scan itself took 56.2% (3065 minutes). Writing the report and discussing the results took 5.0% (272 minutes) and 6.1% (330 minutes) of time respectively. The administrative tasks of printing and filing the report, completing the combined screening and/or further scan appointment paperwork and recording electronically the scan attendance required 26.1% (1421 minutes) of time. At the time of the study the mid Band 7 salary was £34,189 and the mid Band 2 salary was £15,194. Conclusions: Within a routine obstetric scan appointment, 73.9% of the time allocated is spent in ultrasound related activities while the remaining 26.1% of time is used undertaking administrative tasks. Sonographer skills are not essential for performing the administrative tasks which could be provided by support staff, at less than half the cost. In addition to the financial benefit of diversifying the work
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force the sonographer would gain additional scanning time within each appointment thus improving the quality of the service provided to pregnant women.
OP33.03 Visibility and dimensions of Caesarean section scars in pregnancy – an interobserver variability study O. Naji1 , A. Daemen2 , A. Smith1 , Y. Abdallah1 , A. Pexsters3 , C. Stalder1 , S. Ghaem-Maghami1 , D. Timmerman3 , T. Bourne1,3 1
Obstetrics and Gynaecology Department, Imperial College London, The Hammersmith Hospital, London, United Kingdom; 2 Department of Electrical Engineering (ESAT), Katholieke Universiteit Leuven, University Hospitals, Leuven, Belgium; 3 Department of Obstetrics & Gynecology, University Hospitals K.U. Leuven, Leuven, Belgium Objectives: To evaluate visibility and interobserver variability of measurements of lower uterine segment caesarean section (CS) scars dimensions in the three trimesters of pregnancy. Methods: Ninety-nine consecutive pregnant women with a previous Caesarean delivery were examined. Two independent examiners (blinded to each others findings) carried out transvaginal scans at 11–13, 19–21 and 34–36 weeks gestation. Scar was defined visible when a hypoechoic shadow representing myometrial discontinuity at the anterior wall of the lower uterine segment was identified. Visible scars were measured in three dimensions: scar width and depth in sagittal plane and scar length in transverse plane. The residual myometrial thickness (RMT) was delineated and recorded in the sagittal plane. Descriptive analysis was used to assess scar visibility and intraclass correlation coefficient (ICC) was calculated to show the strength of absolute agreement between two examiners. Results: The final cohort consisted of 95 cases delivered at term. The scar was visible in 82/95 cases (86%), of which the uterus was anteverted in 73/82 cases (89%) at the time of the first scan, and retroverted in 9/82 cases (11%). The scar continued to be visible throughout the course of pregnancy. Agreement on scar visibility between the two examiners was demonstrated in 82/82 cases (100%). Intraclass correlation coefficient on scar dimensions showed a high level of agreement between the two examiners: (0.809 [95% CI 0.659–0.897], 0.888 [95% CI 0.793–0.941], 0.903 [95% CI 0.821–0.949], 0.787 [95% CI 0.624–0.884]) for scar width, depth, length and RMT respectively. For all measurements combined the ICC was 0.947 [95% CI 0.927–0.961] Conclusions: We have shown that CS scars remain visible in the majority of women throughout pregnancy. Furthermore, CS scars can be reliably measured in three dimensions using transvaginal ultrasound in all phases of pregnancy. These data may be used to standardize measurements and perhaps offer information about scar integrity in relation to mode of delivery.
OP33.04 Sonographic findings on first trimester CRL growth by using maternal variables (BMI) E. Ancuta1 , C. Ancuta2 , L. Gutu4 , N. Sorici3 , V. Moshin3 1
Cuza-Voda Obstetrics and Gynecology Hospital Lasi, Lasi, Romania; 2 Gr.T. Popa University of Medicine and Pharmacy, Iasi, Romania; 3 Health National Center of Reproduction and Medical Genetics, Chisinau, Moldova; 4 Institute of Oncology, Chisinau, Moldova Objectives: The aim was to determine the impact of maternal prepregnancy body mass index (BMI) on first trimester CRL growth by using ultrasound (US). Methods: This is an ongoing prospective study involving 180 women; all of them underwent US examinations until 14 weeks gestational age. Only singleton pregnancies were included. According
Ultrasound in Obstetrics & Gynecology 2011; 38 (Suppl. 1): 56–167