Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular girdle and right lower limb; and muscle atrophy on left lower limb with marked body asymmetry, scoliosis and toe malformations. These pathological features are associated with moderate mental retardation, mild renal and hepatic abnormalities. We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS.

Objectives:The single umbilical artery (SUA) occurs between 0.2 to 1.9% of births and is associated with major malformations, aneuploidies, IUGR and perinatal death. The objective was to determine these in a large metropolitan Hospital in Santiago. Methods: Retrospective study of women that delivered in Padre Hurtado Hospital, Santiago, Chile. Data was extracted from computer ultrasound databases, delivery database and epicrisis of 13,446 newborns. Association with all perinatal complications were studied. Results: There were 84 fetuses with SUA, with an incidence of 0.62%. From these, 62 (73.8%) were isolated and 22 (26.1%) were associated with malformations or aneuploidy. The average gestational age at delivery was 36 + 4 weeks (range 22-40) and preterm birth was reported in 25 cases (29.7%). Major cardiovascular malformations were found in 55%, genitourinary in 27%, CNS and musculoskeletal in18%. Seven cases were associated to chromosomal abnormalities. The overall perinatal mortality rate was 17.8%, 5 fetuses from the isolated SUA (10.2%) and 10 from SUA associated to malformations/aneuploidies 45%. IUGR was associated in 11.9% of cases. Conclusions:The presence of SUA is associated with increased rate of malformations, aneuploidies and perinatal death even in isolated cases but not to IUGR. These data supports a closer surveillance in fetuses with this condition. Objectives: Congenital diaphragmatic hernia (CDH) is a challenging congenital anomaly to overcome lung hypoplasia. Although extensive efforts continue to be made to predict lung hypoplasia, no parameter has provided exact correlation with perinatal outcome. Our purpose was to determine the useful parameter to predict the outcome in CDH fetuses. Methods: 15 fetuses with CDH were evaluated retrospectively from January 2012 to February 2015. Observed/ expected lung to head circumference ratio (o/e LHR), diameter of pulmonary arteries (PA) and PA Doppler parameters including acceleration time/ ejection time ratio (AT/ET), peak early diastolic reverse flow (PEDRF) and pulsatility index (PI) were obtained. Lung-to-liver signal intensity ratio (LLSIR) was also measured on fetal MRI. We compare the validity of each parameter to neonatal survival, nitric oxide (NO) use after surgery and intubation periods. Results: In neonatal survival, o/e LHR and PA size had significant differences (p < 0.01, p < 0.05, respectively). In lethal cases, 3 in 5 had liver-up although no liver-up was found in survival cases. Lower LLSIR showed a trend to worse neonatal mortality (p = 0.06). PA size was only significant in NO use (p < 0.01) although PI showed a good trend (p = 0.07). Regarding intubation period, shorter AT/ET showed a good correlation to longer intubation period (r = 0.79, p < 0.05) and lower LLSIR had a trend to longer intubation period (r = −0.72, p = 0.07). Conclusions: Two dimensional evaluation might be a good predictor to neonatal mortality. Indeed Doppler parameters, especially AT/ET, might be useful for prediction of neonatal respiratory outcome in lung ...

Short oral presentation abstractsin ovine twin fetuses. The intensified release of neurotransmitters and subsequent increase of cerebral Doppler indices indicates a neuroprotective response to prolonged hypoxia with primary expected brain damages and osmotic imbalances. OP05: FIRST TRIMESTER ULTRASOUND: BEYOND NT OP05.01Only seeing what you look for: use of a detailed ultrasound protocol is associated with increased anomaly detection rates in the first trimester Objectives: First trimester ultrasound is routinely performed for chromosomal abnormality screening and is increasingly becoming a tool for the detection of fetal structural anomalies. The aim was to perform a systematic review and meta-analysis of studies assessing the detection rate of first trimester anomaly detection and to determine which factors impact rates of detection. Methods: An electronic search was conducted to identify publications assessing diagnostic accuracy of first trimester two-dimensional ultrasound for the detection of fetal structural anomalies. Sub-group analysis was performed assessing studies within one of three categories: (1) Studies reporting on major anomalies in an unselected population; (2) Studies assessing all types of anomalies in an unselected population; and (3) Studies examining all types of anomalies in high risk populations. Results: In unselected populations first trimester ultrasound had a sensitivity of 36.1% (95% C.I. 33.2-39.0) for major anomalies and was responsible for 57.1% of antenatal diagnoses. In an unselected population assessed for all types of anomalies the sensitivity was lower 33.3% (95% C.I. 31.1-35.5) while in high-risk populations it was 62.3% (95% C.I. 54.6-70.2). There was a statistically significant correlation between the use of an anatomical protocol for screening and detection rates (P < 0.0001). The use of a detailed protocol, compared to a basic protocol, also improved sensitivity (P < 0.0001). Conclusions: First trimester anomaly screening will lead detects about one third of fetal anomalies in unselected populations and two-thirds in high risk populations. It allows detection of a significant number of severe fetal anomalies at an earlier stage than is currently standard practice. Evidence suggests that the use of a detailed anatomical protocol could improve this further. OP05.02Fetal kidneys' ultrasound appearance in the first trimester

Obstetrics and Gynecology Polyclinic Jurisic, Beograd, Serbia; 3 Public Health Centre Rakovica, Beograd, Serbia Objectives: To evaluate 3D multislice ultrasound technology in detection of fetal urinary tract anomalies. Methods: 50 patients with fetal urinary tract anomalies were included in this study. Fetuses were scanned in 2D, and 3D multislice technique, prior to confirming the urinary tract abnormality. Fetal kidneys and bladder were analysed in all 3 planes in 3D multislice mode in order to confirm urinary tract anomaly. Results: In one patient bilateral renal and bladder agenesis was detected, associated with other severe anomalies as hydrocephalus, cleft lip, oligoamnion and single umbilical artery. Kariotyping confirmed triploidy. Two fetuses had marked megavesica. Four fetuses had multiple anomalies including microcystic kidneys associated with Trisomy 13 and trisomy18. Five fetuses had multicystic dysplastic kidneys, and one of them had multicystic kidney with contralateral renal and bladder agenesis. One fetus had unilateral renal agenesis with normal contralateral kidney. Seven fetuses had ureteral stenosis and marked hydronephrosis with contralateral normal kidney. 30 fetuses had marked pyelectasia in second trimester. In one case there was progression from pyelectasia to unilateral hydronephrosis. Kariotyping in fetuses where pyelectasia occurred in second trimester showed no abnormality. Conclusions: 3D multislice ultrasound may improve diagnostic capabilities of ultrasound in detection of fetal urinary tract anomalies. 3D multislice allowed morphological analysis of fetal kidneys in various planes in order to obtain the best section for final diagnosis. Objectives: The aims of this study were to evaluate the outcome of the cases over the last three years in our centre and to investigate the capability of the prenatal sonographic examination to establish the correct diagnosis of the fetal intra-abdominal cystic masses. Methods: We performed a retrospective three-year analysis and reviewed the cases with cystic abdominal pathology from our centre. The main characteristics of the intra-abdominal masses were evaluated, and the concordance with the perinatal follow-up. EP12.24 Results:In the first trimester (FT) three cases of megacystis were diagnosed and one abdominal cyst was noted but not confirmed at the sonographic and neonatal follow-up. 21 cases of intra-abdominal cystic were diagnosed mass in the second (ST) and third trimesters (TT) of pregnancy, at a mean gestational age of 25 weeks: 13 ovarian cysts, 2 mesenteric cysts, 3 multicystic dysplastic kidneys, one urogenital sinus anomaly and 2 intestinal obstructions (duodenal atresia and intestinal duplication cyst). All the ovarian cysts were unilateral, and 7 of them were homogenous. In 5 ovarian cysts spontaneous resolution was noted in the TT. Termination of pregnancy was performed in the FT megacystis cases and 3 ST cases. Postnatally, surgery was performed in 3 cases: one ovarian torsion, one intestinal obstruction and one mesenteri...

Objectives: Cavum septum pellucidum (CSP) is an important intracranial structure that is necessarily visualised during routine second trimester sonography. A small or a large CSP may suggest abnormal cerebral development. Therefore, determination of CSP volumes can be useful. However, consistency of sonographic measurements for this relatively small structure is a concern. For this purpose, we sought to assess the reliability of CSP volume measurements with three-dimensional ultrasound between 19-24 weeks of gestational age in structurally normal fetuses. Methods: Three-dimensional Virtual Organ Computer-aided Analysis (VOCAL) software was used to calculate the CSP volume from transabdominal multiplanar datasets obtained during 99 consecutive normal fetal ultrasound examinations within a single unit. Agreement among 3 independent observers with different experience levels of ultrasonography (year 2 obstetrics and gynecology resident, year 2 maternal-fetal medicine fellow, and maternal-fetal medicine specialist) was evaluated, using absolute agreement intraclass correlation coefficients (ICC) and 95% confidence intervals (CI). Results: Measurement of CSP volume was possible in all of the fetuses by all examiners. Interobserver agreement between fellow and specialist was relatively high (ICC, 0.78; 95% CI, 0.70-0.85), whereas limited ultrasound experience (resident) was associated with fair agreement with other observers (ICC for resident and specialist, 0.50; 95 CI%, 0.29-0.65 and ICC for resident and fellow, 0.57; 95% CI, 0.38-0.71). Conclusions: Three-dimensional ultrasound CSP calculations using VOCAL software between 19-24 weeks of gestational age seem feasible, but are reliable only when evaluated by an examiner with particular fetal sonography experience. Objectives: To analyse the outcome of fetuses detected with absence of a normal CSP in the last 5 years, in the Prenatal Diagnosis Unit of our tertiary centre. Methods: We performed a retrospective review of the cases with abnormal CSP evaluated in our tertiary unit, diagnosed between January 2012 and February 2016. The fetal anatomy was evaluated in all cases following the recommendations of the international guidelines. In abnormal CSP cases, fetal neurosonogram and an extended fetal anomaly scan were performed and amniocentesis was proposed to identify genetic disorders. Results: The absence of a normal CSP was observed in 0.49% of the cases (38/7740) examined for morphological purposes. Absent CSP was the initial observation that triggered further investigation and diagnosis of 7 cases with agenesis of corpus callosum and 2 septo-optic dysplasias. In heavily malformed brain cases, as the neural tube defects, hydrocephaly, porencephaly, schizencephaly and holoprozencephaly, the absence of CSP was only an observation, with less diagnostic importance and clinical implications. Almost half of the total abnormal CSP cases (16) associated genetic disorders, most of them with abnormal karyotype and all of them were associated with the absence of CSP. Cystic m...