P. Laviscio

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.

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.

P33.14: Prenatal sonographic diagnosis of fetal scoliosis: case report

The VACTERL (Vertebral defects; Anal atresia; Cardiac anomaly; Tracheal-Esophageal fistula; Renal defects; Limb defects) association is a rare, usually sporadic, disorder. Prenatal ultrasound features are few and early prenatal diagnosis is difficult. We report a case of prenatal diagnosis of VACTERL syndrome diagnosed by 3D/4D maximum render mode in second trimester ultrasound screening. A 31-year-old woman gravida 1, was referred to our private clinic for a routine second trimester scan at 21 weeks and 3 days of gestation. The 2D scan revealed a single umbilical artery, an enlarged intrahepatic umbilical vein and a small gallbladder. No other structural or biometrical defects were visible. In particular the 2D ultrasound sagittal view of fetal spina did not show abnormal features. The 3D/4D maximum render mode (Voluson 730 Expert, GE) utilized to visualize fetal spina, routinely performed in our clinic, showed a disrupted architecture of the vertebral bodies in the lumbarsacral tract of the fetal spina. VACTERL syndrome was suspected. The parents opted for termination of pregnancy. Post-mortem examination confirmed prenatal findings and revealed furthermore imperforate anus and aorta coartation. Diagnosis of VACTERL syndrome was confirmed. 3D/4D maximum render mode is an easy and useful technique to study fetal spina. The post-processing imaging of the volume sectional planes, give the possibility to visualize the spina in the three planes simultaneously and allows the identification of subtle vertebral defects. In our opinion 3D/4D maximum render mode visualization of fetal spina should therefore be included in a detailed fetal anomaly scan when a single umbilical artery or other features of VACTERL syndrome are present.

P40.16: Cystic adenomatoid malformation volume ratio to predict fetal outcome: bidimensional versus three-dimensional ultrasound

Results: Thirteen cases with fetal lung mass were examined. Expert ultrasound and fetal MRI identified: cystic adenomatoid malformation (CAM) (nine), lung sequestration (three), larynx atresia (one). Ultrasound was accurate in 12/13 cases. One fetus with lung sequestration had CAM type I also. Of the cases with CAM, 55% was type III, one of them had an extra – lung malformation. Polyhydramnios was present in three patients and one case had fetal hydrops. 44% of the CAM cases born at term and three of the all cases with CAM required surgical treatment. Conclusion: A wide range of lung malformations can be recognized in the fetus. Antenatal categorization of the abnormal findings is difficult and not always precise. The knowledge of the prognosis allows for parental counseling.

OC120: 3D invert mode sonography versus 2D saline infusion sonohysterography in the diagnosis of endometrial anomalies

Objectives: To assess the diagnostic accuracy of TVUS and SHG in the preoperative staging of submucous fibroids. Methods: Forty-eight women with submucous fibroids diagnosed on TVUS were assessed with SHG within 30 days from surgical treatment. Fibroids were staged according to the angle between the fibroid margins and the endometrium: G0, < 20◦; G1, 20–90◦; G2 > 90◦. Results were compared with findings at operative hysteroscopy or on pathological examination of the uterus. Results: TVUS allowed staging of the fibroid in 18/48 cases (38%). SHG changed staging in 3 out of these 18 cases (17%). In those 30 women where TVUS did not allow staging of the fibroid, SHG was successful in 26. Overall, SHG was considered diagnostic in 44/48 cases (92%). In all of these 44, the accuracy of staging was confirmed. In 4 cases, SHG was considered non diagnostic due to technical difficulties in obtaining sufficient distension of the endometrial cavity. No patient experienced severe pain, vasovagal reactions or infection. Conclusion: SHG performs better than simple TVUS in the preoperative staging of submucous fibroids. SHG showed complete concordance with hysteroscopic and pathological findings.

P06.04: Vesicocentesis vs vesicoamniotic shunt: our experience in obstructive urinary fetal malformation

Objective: To evaluate the positive predictive value of the middle cerebral artery (MCA) Doppler peak systolic velocity (PSV) measurement > 95th centile for the detection of fetal anemia in pregnancies complicated by red cell alloimmunization. Methods: A retrospective analysis of 41 patients over a 3 year period. In 47 cases an intrauterine fetal transfusion was undertaken between 21 and 35 weeks gestation because of suspected fetal anemia. Deviation of MCA PSV and hemoglobin from the mean/median were expressed as either Z-scores (SDs) or multiples of the median (MoM), respectively. The sensitivity of the 95th centile (> 2SD) of MCA PSV for mild (< 0.85 MoM) and moderate/severe (< 0.65 MoM) anemia were calculated. Results: The sensitivity of the 95th centile of MCA PSV for mild and moderate/severe anemia was 97% and 100%, respectively. There were only 3 false positive MCA PSV tests, two of which were related to the presence of a coincidental fetoplacental vascular tumor causing a hyperdynamic circulation. Conclusions: The 95th centile of the MCA PSV appears to have an equal sensitivity with a low false positive rate for the detection of fetal anemia compared to the 66th centile (1.5MoM), which is the currently recommended standard. Use of the 95th centile would reduce the number of invasive tests required in the management of red blood cell isoimmunised pregnancies.

P10.37: Unusual appearance of placental haematoma in a patient affected with deficit of factor XIII and venous thrombosis

Introduction: The aim of the presence case-report study was to evaluate the nature of the depicted round subchorionic ‘‘tumor’’ of 81 mm at 12 week of gestation age versus a possible myoma of haematoma and possible affection of fetal growth. Background: We studied serially using color-Doppler technique all the parameters of fetal growth and the tumor was still depicted at 34th week of gestation age ultrasound with the same dimensions and peripheral vascularisation but the fetal measurements started at that time to stay 1 week of gestational age and 3 days behind. Results: From that time a close study of the previous pregnancy started and after the caesarean section at 37th week of gestational age a healthy boy of 2.200 grams was delivered. The neonate admitted in NICU for 7 days for medical care. Discussion: The nature of the removed ‘‘tumor’’ was an haematoma which remained so long time and affected at the end the fetal growth marginally. Three months after delivery the mother examined for endovaginal color-Doppler ultrasound in which increased vascularisation depicted at the site of the described ‘‘tumurous’’ haematoma. Conclusion: The persistence of the haematoma might to be due to specific uterine vascularisation conditions of the posterior uterine wall which permitted its extremely enlongated presence.

P11.10: Use of 3D US scan and prenatal diagnosis of Weaver syndrome

Overgrowth Syndromes (OS) – Beckwith-Wiedeman (BW), Simpson-Golabi-Behmel, Perlman, Sotos, Weaver (WS), Proteus, KlippelTrenaunay and some other heterogeneous conditions – are characterized by an excessive prenatal and postnatal growth. As some of them have a poor prognosis, a correct prenatal diagnosis is essential. So far, just a few of prenatal diagnosis of OS have been reported, mostly regarding the BW one. We report the first prenatal diagnosis of Weaver syndrome, in a low risk pregnancy, detected as early as the 22 weeks’ gestation, in a G2 P1 28-year-old Caucasian woman. Parents were non related. The patient was referred to our tertiary centre because of a presumptive diagnosis of BW syndrome, that was excluded because there was neither omphalocele nor macroglossia. 2D US scan was performed with an Hitachi Logos machine (Esaote), and the images were further elaborated in a 3D freehand mode. The 2D scan showed a single living fetus with all the biometric parameters above the 99◦ centile for gestational age. The fetus showed as well: broadening of long bones epiphyses; external male genitalia with micropenis; enlarged hyperechogenic kidneys with severe hydronephrosis; camptodactyly with clinodactyly of fifth digits; enlarged liver; long, everted and broad upper lip.; large ears; enlarged plica nucalis > 9 mm; polyhydramnios. Amniocentesis showed a normal male, 46XY, karyotype. 3D surface rendering images better defined the 2D findings, especially as for the fetal profile, hands and kidneys was concerning, allowing us to postulate a prenatal diagnosis of Weaver syndrome. After extensive genetic counselling, parents opted for pregnancy termination, and a stillborn fetus weighing 788 g was delivered. Dismorphological, X-Ray and necroscopic examination confirmed the prenatal diagnosis of WS. We believe that 3D scan is helpful in making an accurate prenatal diagnosis in case of OS, permitting parents to decide in order to pregnancy termination.