M. L. Pisaturo

P14.07: Fetal akinesia deformation sequence associated with cystic hygroma colli in a fetus affected by Down syndrome, at 11–14 weeks' gestation

Objective: To assess the pregnancy outcome and neonatal follow-up in fetuses with first trimester increased nuchal translucency (> p97.5) and normal karyotype. Methods: For an optimal follow-up, a specific clinic attended by an obstetrician has been established since October 2002. Fetal echocardiography (14 and 20 weeks), early anomaly scan (12–14 w), anomaly scan at 20 weeks with nuchal fold measurement and maternal infection screening (CMV, toxoplasmosis and parvovirus B19) have been allocated. Newborn follow-up has been established during the first year of life. Results: From October 2002 to February 2004, 52 fetuses with increased NT and normal karyotype were detected. A structural defect or genetic syndrome was diagnosed in 14 cases (26%): 6 cardiac defects, 2 urinary tract abnormalities, 2 fetal akinesia deformations, 2 fetal hydrops, one multiple malformation and one unespecified syndrome. From these, there was one spontaneous fetal loss at 15 weeks, 7 terminations of pregnancy (TOP), 2 neonatal or infant demises, and the four survivors required medical or surgical treatment. In addition, there was one spontaneous miscarriage at 13 weeks, and one TOP undertaken at 20 weeks, because of PROM with severe oligohydramnios after CVS. Twenty-five newborn (47%) were delivered with no defect and showed normal neurodevelopment up to the first year of life. In all of them, nuchal fold had been resolved by 20 weeks. Finally, there are 9 ongoing pregnancies (17%) with no abnormalities detected in the first half of the pregnancy. Conclusions: Increased NT with normal karyotype is associated with a high incidence of fetal abnormalities (25%). When no anomalies are detected and nuchal fold is normal at 20 weeks, the risk of and adverse outcome is very low.

P145: Mid second trimester prenatal diagnosis of vater association

VATER association is an acronym for vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and renal anomalies. It is rare and sporadic and with no recognized teratogen or chromosomal abnormality. A mitochondrial DNA disorder has been suggested. To date a few of prenatal diagnosis of VATER association have been reported in literature. We report a case of VATER association diagnosed as earlier as the 20th week of gestation associated with a number of fetal anomalies. The consultant, a 33-year old Caucasian woman, gravida3, para1, was referred to our prenatal diagnosis unit because of a previous US scan showing a single vessel umbilical cord, an omphalomesenteric cyst, hypoplasia of left cerebellar hemisphere, ectasia of the aortic arch, a suspicious of anal atresia, sacral anomalies. Normal female foetal karyotype, 46 XX, obtained by amniocentesis, was found. The 20th-week scan confirmed the previous diagnosis but the cerebellar hypoplasia showing as well a coarctation of the descending aorta, a mild bilateral renal pyelectasis with a dysplastic appearance, a diagnosis of sacral agenesia was made. Genitalia was definitively ambiguous with an hypertrophic tuberculum ending with an anechoic cyst showing gross variation during the scan as for the urethrocele. Stomach was not detected during the all US examination. Even tough, due to the earlier of the gestational week, there were no signs of tracheoesophageal fistula, on the basis of the US scan a diagnosis of VATER syndrome associated with ambiguous genitalia was made. After prenatal and genetic counselling parents decided for pregnancy termination at 20 weeks of gestation. Dismorphological and X-ray examination confirmed the US diagnosis and necroscopy further detected an esophageal atresia. This case confirm that the VATER association can be readily diagnosed in utero, and that prenatal diagnosis can contribute to clinical decisions regarding pregnancy.

P12.11: Prenatal serial echocardiograms in the management of fetuses at risk for congenital heart block: our experience

women were referred for fetal cardiac screening, the remainder for suspected abnormalities. Fetal Cardiac abnormalities were diagnosed in 16/375 (4.3%) of ‘high risk’ screened women. They included 3/61 (5%) screened women with maternal cardiac disease, 9/166 (5.4%) previous child/sibling? with CHD, 4/34 (11.8%) of screened women with diabetes mellitus. Fetal cardiac abnormalities were identified in 18/375 (4.8%) women who had multiple risk factors. There were no obvious fetal cardiac defects among screened groups with a history of paternal CHD, previous child with CHD, maternal antibodies, and history of drug intake. Conclusions: The rate of antenatally diagnosed cardiac defects is higher than expected among our screened population. However, subgroup analysis revealed that it may vary between groups. Future studies are required to evaluate the implication of implementation of routine fetal cardiac screening policy on the antenatal detection rate of CHD and its management.

P16.10: Cornual pregnancy undiagnosed until 13 weeks gestation. A case report

Objectives: We aimed to evaluate use of pre-treatment hCG ratio in conservative treatment of tubal EPs. Methods: Ongoing prospective observational study of women who presented to EPU between Nov 2006 and Dec 2009 with a TVS diagnosis of tubal EP. EPs are managed in accordance to a protocol based on full evaluation of clinical, sonographic and biochemical (hCG) data. Surgery (laparoscopic salpingectomy) is done only if: clinical presentation suggests rupture or impending rupture, noncompliance or failure of conservative treatment (MTX or expectant). Pre-treatment hCG ratio (hCG at 48 hrs/hCG at presentation) is determined: if at 48 h, the hCG ratio > 1.0 women are treated with MTX in a single-dose IM protocol; if at 48 h, the hCG ratio < 1.0 (failing EP) women are offered expectant management with weekly hCG. Success was defined as an uneventful decline of hCG to non-pregnancy levels with the primary intervention. Results: 2048 pregnant women underwent TVS. During the study period 106/2048 (5.2%) EP were managed according to the unit’s protocol. Median age (years) was 30 (Range 17–44), median gestational age (days) at diagnosis was 47 (Range 11–86), and median hCG level (IU/L) at presentation was 837 (Range 12–41440). 45 (42.5%) were treated surgically from the onset. 23 (21.7%) women had an hCG > 1.0 and therefore were selected for MTX whilst 38 (35.8%) women had an hCG ratio < 1.0 and therefore were selected for expectant management. Two women had laparoscopy as a failure of MTX and expectant management respectively. Success rates of MTX and expectant management were 87% and 95%, respectively. Conclusions: Determination of pre-treatment hCG ratio in women with an EP who are clinically stable can optimise non-surgical interventions.

P18.14: Prenatal utrasonographic findings of a fetal dorsal giant congenital nevus

Objectives: To review the imaging findings and outcome of unilateral pulmonary agenesis in the fetus. Methods: Retrospective review at a single academic center. Results: Case 1: Presented at 29 weeks with severe IUGR, occipital encephalocele, left renal agenesis, arthrogryposis, small stomach and left lung agenesis. The infant died at 30 hrs of age, no intervention occured. Case 2: Presented at 18 weeks with unilateral left lung agenesis, small right lung, right renal agenesis, interrupted aortic arch, facial dysmorphism. The infant lived about 30 mins after resuscitation attempts ceased. Case 3: Presented at 20 weeks with left pulmonary agenesis, right renal agenesis, club foot, caudal regression sequence and other vertebral segmentation anomalies as well as a single umbilical artery. The infant survived; she had emergency repair of aortic coarctation and is alive at age 3. All had normal karyotype. Conclusions: Pulmonary agenesis is described as an isolated finding in the pediatric literature however 50% of live born infants have features of the VACTERL association. Our series suggests that the prognosis is guarded when the diagnosis is made prenatally. All three had significant associated abnormalities, some of which were not appreciated on fetal US or MRI. Two infants died in the neonatal period and the third had a difficult time during repair of an unanticipated coarctation of the aorta.

P22.04: Renal artery duplication: two cases

and some of them needed fetal therapy. In our results, GA at birth (p = 0.014) and Apgar score (p = 0.012) were significant clinical parameters and bilaterality of pleural effusion, increase of effusion and developed hydrops (p = 0.042) were significant sonographic parameters. But measured lung volume using 3D XI VOCAL in FIPE was not correlated to neonatal outcome due to few cases. Conclusions: The outcome of FIPE is generally good. These data will be helpful for prenatal counseling. Furthermore we need to study lung volume using 3D XIVOCAL as prognostic factor.

OP08.09: The use of 3D Multislice technique in the evaluation of artifacts in fetal heart scanning during second trimester

magnification and rotation functions and a right-left set was done using the spine as a reference point in plane A. The software senses and reconstructs views using spatial relationships. A seven plane tomographic ultrasound imaging (TUI) display is then added. The data was then analysed to determine whether the target diagnostic planes were correctly identified in one or more of the seven TUI plane. Results: Necessary planes were observed in 93% of patients studied. Conclusions: 3D scans permit accurate display modes for evaluation of the fetal heart. This holds great potential for reducing operator dependency and enhancing the utility of ultrasound in normal and diseased fetal hearts.

P30.05: Preoperative sonographic diagnosis of two cases of uterine smooth muscle tumor of uncertain malignant potential

Uterine smooth muscle tumors are frequent benign pathologies in women of reproductive age. Among these tumors, smooth muscle tumors of uncertain malignant potential (SMTUMP) show unpredictable clinical outcome. We report a case SMTUMP preoperatively diagnosed only by ultrasonographic techniques. Cases Report: A 34 years-old Caucasian woman, and a 41 yearsold Caucasian woman, were referred to our gynaecological ultrasound unit for uterine bleeding and pelvic pain. They received ultrasonographic evaluation, including Power Doppler and 3D imaging. Patients showed a single intramural mass, 10 cm and 8 cm in size respectively. The scan was performed by transvaginal and transabdominal sonography using an Accuvix-Medison ultrasound machine. Sonographic features in both patients were as follows: cystic degeneration of the mass, thinness of the surrounding myometrium and increased peripheral and central vascularization with vascular networks, characterized by low resistance index (RI 0.26–0.37). 3D evaluation showed well-depicted margins and low stiffness of the mass that greatly changed with probe movements in both cases. No metastasis has been found. Patients were submitted to conservative surgical treatment. Histologic findings were classified as SMTUMP according to the WHO criteria. Discussion: Diagnosis and prognosis of SMTUMP raises many problems. Biochemical markers seem to have no value in diagnosing this type of lesion. To our knowledge, sonographic depiction of SMTUMP has not yet been reported. These are the first two cases preoperatively diagnosed only by sonographic techniques. If our data will be furtherly confirmed, 2D-3D transvaginal sonography and color-Power Doppler techniques could be considered as the first line technique in the study of these uncommon uterine masses.

P25.12: Spontaneous resolution of cystic hygroma colli and intrabdominal cyst in a fetus with normal karyotype

The OEIS complex (omphalocele, bladder exstrophy, imperforate anus, spine defect) is an extremely rare condition. The spectrum of defects is variable. The etiology is probably heterogeneous. The complexity of this malformation challenges the identification by ultrasound in early gestation. Most of the reported cases were diagnosed postmortem or postnatally. To our knowledge, we report the earliest diagnosed case of OEIS complex. A 30 year old primigravid woman was referred at 11 weeks and 2 days of gestation for nuchal translucency screening. The nuchal translucency was 1 mm. We detected a large umbilical cord cyst. The ultrasound examination was repeated at 12 weeks 2 days. Skin covered lumbosacral neural tube defect and ventral wall defect were suspected and bladder was not observed. The patient was reexaminated at 14 weeks 2 days. Three umbilical cord cysts, single umbilical artery, scoliosis and club foot were determined. The prognosis was explained and the family decided to terminate the pregnancy. Postabortal examination demonstrated absent external genitalia, exstrophy of bladder, imperforate anus, large omphalocele resulting from a median ventral wall defect at the caudal end of the body that resulted with the herniation of two lobes of liver, small intestine and one gonad. The defect was covered by a membrane composed of peritoneum and amnion. The histology of the gonads revealed a normally developed testis. Karyotype was 46, XY. X ray examination of the fetus demonstrated vertebral defects and autopsy findings were consistent with OEIS complex. Differential diagnosis includes cloacal extrophy, body stalk anomaly, amniotic band syndrome, isolated omphalocele and isolated neural tube defect. Probably early ultrasound diagnosis of OEIS complex with heterogeneous presentations will be possible with further accumulation of data in the literature. Although the risk of recurrence is very low, autopsy and fetal chromosome analysis should be offered in these cases.

P46.06: Use of SonoVue in the study of cervical cancer: Our experience

Results: The presence of a notch in the Doppler shift spectrum was significantly more common in extraovarian than ovarian masses (P < 0.0001). Notches were particularly common in tubal lesions and tubo-ovarian abscesses (51% and 68%), less common in peritoneal and paraovarian cysts (29% and 15%) and least common in ovarian lesions (3%). Multivariate logistic regression showed that extraovarian origin of a mass was the only variable to explain the presence of a notch in the Doppler shift spectrum of tumor vessels. Conclusion: Even though the presence of a notch in the Doppler shift spectrum cannot conclusively distinguish between ovarian and extraovarian adnexal lesions, or between lesions involving or not involving the tube, assessing Doppler shift spectra for the presence of a notch may contribute useful diagnostic information in cases where the ultrasound examiner is uncertain about the diagnosis.