C. Groli

Width of the fetal lateral ventricular atrium between 10 and 12 mm: a simple variation of the norm?

The prognosis of borderline forms of anomalies that can be detected by ultrasound is one of the most challenging issues in prenatal diagnosis. The aim of this study was to determine the prognosis for fetuses presenting with isolated mild ventriculomegaly (MVM).

A new approach to prenatal treatment of extralobar pulmonary sequestration

Fetal hydrothorax and hydrops is a frequent complication of extralobar pulmonary sequestration which is associated with a high perinatal mortality and severe respiratory insufficiency in the newborn. In a 27‐week‐old fetus with this condition, injection of 1 ml of pure alcohol and pleuro‐amniotic shunting achieved resolution of hydrops. The pregnancy progressed to term and a healthy neonate was delivered who did not require postnatal surgery. Copyright

MATERNAL SERUM SCREENING AND TRISOMY 16 CONFINED TO THE PLACENTA

Five cases of trisomy 16 confined to the placenta have been detected by invasive procedures (amniocentesis and chorionic villus sampling) after high‐risk results for Down syndrome and neural tube defects in a maternal serum screening programme of 6614 consecutive cases. All five pregnancies displayed unusually elevated levels of human chorionic gonadotropin and four out of five also had raised alpha‐fetoprotein values. No structural malformation was present but all five pregnancies were complicated by fetal growth retardation, and one by intrauterine death. From our results, we suggest that both amniocentesis and chorionic villus sampling should be considered in the management of cases with high mid‐trimester levels of these analytes.

‘Dual Positivity’ for Neural Tube Defects and Down Syndrome at Maternal Serum Screening: Gestational Outcome

Objective: To evaluate the gestational outcome of pregnancies screen-positive for both neural tube defects (NTD) and Down syndrome (DS) (‘dual positivity’). Methods: Among 10,667 mid-trimester women screened for DS and NTD with α-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG), delivered up to July 1996, we have selected cases with both an unexplained AFP value ≥2.5 multiples of median (MoM) and a DS risk ≥1:250. All these pregnant women were managed with amniocentesis and/or CVS, ultrasound scans, and Doppler velocimetry. We have collected all data about the gestations with ‘dual positivity’ and no obvious explanation for these findings (cases with fetal malformations related to raised AFP). Results: Twelve women (1.1:1,000) showed unexplained ‘dual positivity’. Abnormal karyotypes were found in 3 fetuses, and pregnancies were terminated: there were 2 triploidies with partial hydatiform mola, and 1 DS. In 9 cases the fetal karyotype was normal, but a confined placental trisomy 16 was found in 4. Of the 9 continuing gestations, 8 displayed fetal growth retardation (FGR). One gestation ended with fetal death at 27 weeks. All 9 fetuses were morphologically normal, and 8 were small for gestational age. Conclusions: ‘Dual positivity’ at NTD/DS screening may anticipate pregnancy complications. The finding of trisomy 16 confined to the placenta and FGR in 4 cases suggests that at least some fetuses with growth restriction may suffer from a distinct placental disease. Maternal serum screening may have implications different from DS and NTD, as demonstrated by the 2 cases with triploidy and incomplete hydatiform mola, the 4 cases with placental trisomy 16, and the 4 cases of FGR of the 5 fetuses without chromosome abnormalities. As the pathologic outcome of these pregnancies is more important than the mere serum screening results, we feel that these cases need a strict work-up, including CVS, amniocentesis and ultrasound studies to better address the obstetrical management.

Prenatal diagnosis of ventriculocoronary arterial communications combined with pulmonary atresia

We report our findings in a case of pulmonary atresia with intact ventricular septum and ventriculocoronary artery fistula in which power Doppler was used to make the diagnosis. A 30-year-old primiparous woman with no significant medical history presented at the fetal echocardiography service of our prenatal diagnosis center at 21 + 2 weeks of gestation after a routine sonographic examination had demonstrated a slightly enlarged fetal left cardiac ventricle. Sonography was performed using a Siemens Elegra ultrasound machine (Siemens, Erlangen, Germany) with a 3,5C40H transabdominal transducer. This showed fetal biometry to be consistent with gestational age and the extracardiac fetal morphology was normal. Twodimensional imaging of the four-chamber view confirmed that the left ventricle was slightly enlarged. The left outflow tract and the aortic arch were normal. Color Doppler examination demonstrated normal blood flow to the ventricles in diastole and absence of tricuspid valve regurgitation. The right ventricle was slightly hypoplastic with a hypertrophic myocardium and reduced movement. The main pulmonary artery diameter was reduced, the pulmonary arteries were perfused by retrograde flow from the ductus arteriosus and no flow through the pulmonary valve was detected. Power Doppler identified the presence of an anomalous vessel on the external wall of the heart which was confirmed by color Doppler and which demonstrated turbulent flow from the apex along the external wall of the right ventricle (Figures 1 and 2). Pulsed Doppler examination of this vessel demonstrated the presence of bidirectional flow: antegrade flow with a peak velocity of 150 cm/s and retrograde flow with a peak velocity of 110 cm/s (Figure 3). A diagnosis of pulmonary atresia with intact ventricular septum and abnormal communication between the right ventricle and left coronary artery was made. Fetal karyotyping following amniocentesis was normal and excluded the presence of the 22q11.2 deletion. The patient was counseled about the possibility of Figure 1 Power Doppler ultrasound image showing the fistula surrounding the right ventricle (RV) and connecting with the aorta (arrow).

OC71: Isolated mild ventriculomegaly (10–12 mm): very long-term prognosis

Methods: We considered 58 consecutive single pregnancies referred to our Centre for Prenatal Diagnosis with a lateral ventricle measurement between 9.5 and 9.9 mm. For all cases we obtained perinatal and long-term follow-up (> 24 months). Results: In 14 cases (24%) associated malformations were present: four aneuploidies (two trisomy 21, one trisomy 13 and one triploidy), one complex malformation, three spina bifida with myelomeningocele, one transposition of great arteries, two Beckwith syndromes, one Zellweger syndrome, one case of epilepsy associated with liver dysfunction, one renal pelvic dilatation. Among the 44 cases of isolated ventriculomegaly, one pregnancy was terminated because of psychiatric indication, 42 infants (97%) were healthy at more than 24 months of life, and only one newborn showed severe neurological dysfunction (neurodevelopmental delay and motor deficit) caused by a demyelinating disease of the white matter not diagnosable in utero. Conclusions: These data, comparable to those obtained for ventriculomegaly between 10 and 12 mm, suggest that the cut-off for mild ventriculomegaly should be lowered to 9.5 mm.

P07.07: The use of integrated test for the screening of chromosomal pathology in referral center

Objectives: The department uses the guidelines from the Danish Ministry of Health for trisomy 21 screening. The department has 1900–2200 births per year. Nasal bone(NB) has in studies been shown to be a marker of trisomy(tri) 21. In Denmark pregnant women are offered a screening for tri 21 by a nuchal translucency(NT) scan and double test. Not all hospitals in Denmark use NB as a marker in tri 21 screening. Sønderborg Hospital has used NB as a marker in tri 21 risk calculation since 2008. The false-positive (F-P) rate of Hospital Sonderjylland, Sonderborg, is markedly lower than the Danish national average F-P rate. To investigate the connection between the number of NT scans that also included a NB-ultrasound scan and the rate in routine ultrasound scans performed by sonographers. Methods: Data from all routine NT ultrasound scans in the southern Jutland area from 1.5 2006 to 31.12 2011 were collected in Astraia. The total number of NT ultrasound scans was 11.234. All NT scans have been performed by sonographers. Results: See Table Conclusions: There seems to be an connection between the percentage of NT scans where the NB was included in the risk calculation as an tri 21 marker and the F-P rate. The higher the number of NT ultrasound scans that included NB, the lower the F-P rate. In 2011 there was a rise in the F-P rate and a drop in the number of NT scans that included NB. This was due to change in the local guidelines for use of NB in the tri 21 risk calculation. This study shows that sonograhers trained and certified in NB ultrasound scan can find the nasal bone in such a large percentage of the routine NT-screenings that it affects the F-P rate.

OC09.02: Complications and outcome of invasive prenatal diagnosis in twin pregnancies

Objectives: In first trimester risk assessment, crown–rump length has been utilized as the gold standard for dating pregnancies and interpreting screening results. Other fetal biometric measurements have been employed to confirm gestational age, but not to interpret screening results. The purpose of this study is the compare the accuracy and precision of crown–rump length and other fetal biometric measurements in the interpretation of first trimester nuchal translucency. The goal is to determine which measurement leads to the least variability when an observed nuchal translucency measurement is related to the expected level for the observed biometry value (MoMs). Methods: Women presenting to an academic fetal diagnostic center between 11+0 and 13+6 weeks were examined by one sonographer followed by one physician. Each examiner obtained 3 independent measurements of fetal biometric parameters, and NT. Patients were excluded for fetal malformations or demise. Biometry-specific expected NT values were calculated using regression models, and the results were converted into MoMs. The standard deviation of log MoM was compared, and the smallest value was regarded as reflecting the biometric measure with the greatest accuracy and precision. Results: Measurements were obtained on 135 fetuses. Abdominal circumference yielded MoMs with the smallest standard deviation, significantly lower than for CRL, the next smallest (P < 0.0001). The standard deviation of AC remained the smallest when results from sonographers and physicians were considered separately, and when the mean of the three exams was used rather than the individual exam results. Conclusions: Abdominal circumference is the most accurate and precise biometric measurement for the interpretation of nuchal translucency screening results. Since crown rump length is currently utilized to calculate NT MoMs in order to place fetuses in categories of risk for aneuploidy, consideration should be given to an alternative model for calculation of NT MoMs using other fetal biometric measurements. OC09: COMPLICATIONS OF TWIN PREGNANCY

P12.08: Prenatal appearance and prognosis of hyperechoic lung lesions

uvula by its distance to the epiglottis, proof of soft palate’s integrity, using a common view: the profile. We evaluated it’s feasibility. Method: Embryologic reasons leads to have an uvula’s growth in a posterior and inferior way as to be very closed to the epiglottis in normal conditions. From a cranial view of a profile we turn around keeping the same plan as to avoid bony shadow, allowing the visualization of the uvula and the epiglottis separated by an anechogenic zone highlighted by the posterior contour of the tongue. Until now, 500 examinations have been performed. Results: This distance has always been possible to get, in 50% in less than 10 seconds, 80% in less than 2 minutes, but sometimes it took quite a lot of time. The distance was between 2 and 4 mm with a mandible’s neutral position. In soft palate’s cleft we examined (2 cases) this distance was more than 1 cm. This distance appears simple to get (80% in less than 2mm) and could be obtained in all cases with more time. In our results normal fetus has a very shorter distance than in cleft problems, accordingly to embryologic development where distance can’t be theoretically increased. This normality can be proved with only one common static view. Conclusion: Using the posterior wall, hard palate’s integrity is not so difficult to visualize, even in routine, with a very good sensitivity and specificity. Uvula-epiglottis distance appears to be the best sign to be sure of soft palate’s integrity as for secondary bony palate, and can be also quite easily evaluated using only one 2D profile static view. These first results are very encouraging and have to be confirmed.

P17.11: Abdominal wall defects: a retrospective study on neonatal outcome

Introduction: Fetal subdural hematoma (SDH) is a rare event. With advances in obstetric ultrasound however it has been recognized that SDH may occur in utero before the onset of labor. We present a unique case of atraumatic SDH diagnosed in the second trimester. Case Report: A 31-year-old woman was referred to our institution for the investigation of a brain anomaly detected in an anomaly scan, at 22 weeks and 4 days of gestation. The woman had an uneventful pregnancy so far. A rounded hyperechogenic mass was detected in the posterior fossa, measuring about 2 cm, between the skull and the brain producing only a mild midline shift to the right. A strong suspicion of a fetal subdural hematoma was brought to mind among others. We suggested fetal brain MRI and this confirmed our suspicion of atraumatic spontaneous subdural hematoma of the posterior fossa. Medical consultation was given to the parents stating the scarcity of the condition and the poor prognosis that is referred to the literature. The parents chose the termination of the pregnancy, which took place with misoprostol leading to the delivery of a dead female fetus weighing 596 gr. The pathology report, confirmed the ultrasonographic and MRI diagnosis. Conclusion: Spontaneous fetal subdural hematoma is an extremely rare condition with a poor prognosis and it has never been reported before in literature to occur and be diagnosed at the time of the midtrimester scan. Ultrasound and other imaging techniques such as CT and MRI, and use of Doppler techniques for detecting cerebral hemodynamic abnormalities, might help in earlier diagnosis and perhaps lead to more accurate management and prognosis.