A. Gasiorek‐Wiens

Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies

We report on a case of a fetal epignathus combined with two fetus‐like structures resembling acardius acranius. The anomaly was detected at 23 weeks of gestation and led to termination of pregnancy at 24 weeks. This is the first description of epignathus with parasitic fetuses detected prenatally. It shows that the boundary between fetal teratoma and multiple pregnancy in special cases may be difficult to define. Copyright

OP03.14: Different degrees of ventriculomegaly: frequency of chromosomal anomalies, associated malformations and congenital infections

Materials: The database was searched and all cases in which the sonographic diagnosis of a central nervous system malformation was made were included. Results: There were 280 patients in which a diagnosis of a CNS malformation was made. The most common diagnosis was related to dilation of ventricular system, followed by neural tube disease, agenesis of the corpus callosum and posterior fossa abnormalities.

OP03.15: Isolated mild cerebral ventriculomegaly: cytogenetic findings and pregnancy outcome

Materials: The database was searched and all cases in which the sonographic diagnosis of a central nervous system malformation was made were included. Results: There were 280 patients in which a diagnosis of a CNS malformation was made. The most common diagnosis was related to dilation of ventricular system, followed by neural tube disease, agenesis of the corpus callosum and posterior fossa abnormalities.

OC29.01: Association between first trimester PAPP‐A and adverse pregnancy outcome

first trimester cervical length between cases who delivered vaginally and those who had a C-section (p=0.04). Conclusion: Cervical length measurement is feasible at 11–14 weeks using a standardized technique. Our preliminary data indicate that a short cervix in the first trimester is associated with a higher risk of preterm delivery and the longer measurements are associated with an increased risk of Cesarean section.

P01.18: Congenital diaphragmatic hernia—factors influencing decision making

Results: We identified 84 cases. 24 had associated gastro-intestinal tract and respiratory anomalies; 22 had abnormal karyotypes (10 Trisomy 18s, 5 Trisomy 21s and 1 each of other aneuploidies or other karyotypical abnormalities); 6 had neuromuscular syndromes; 3 had major central nervous system anomalies; 7 had renal anomalies causing anhydramnios; 5 had other genetic syndromes; 2 had placental insufficiency leading to anhydramnios; 8 were found to have normal stomach appearances and had normal outcomes and 7 had a normal outcome despite persistently absent stomach on ultrasound examination. Of these 84: 26 underwent termination of pregnancy; 9 suffered in utero fetal demise; 8 died in the neonatal period; 3 died in infancy; 44 had a live birth and survived infancy and 5 outcomes were not obtained. Conclusions: A persistently absent stomach on ultrasound scanning is associated with a guarded prognosis – with an incidence of abnormal karyotype of 29% and a high incidence of associated structural abnormalities. In only 9.2% of persistently absent stomachs was the outcome normal. We have not been able to explain why these normal fetuses did not demonstrate stomach ‘bubbles’ on ultrasound.

OP02.10: The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women of advanced maternal age

Results: The number of the referred cases was 28 in NT of 95th –99th centile (group 1;G1), 27 with NT of 3.5–4.4 mm (group 2;G2), 21 with NT of 4.5–5.4 mm (group 3;G3), and 66 for NT > = 5.5 mm (group 4;G4). Chromosomal anomalies were detected in 2 cases (Down syndrome) of G1, 2 cases (Down syndrome) of G2, 3 cases (2 Down syndromes, 1 trisomy 18) of G3, and in 21 cases (5 of Down syndrome, 10 of trisomy 18, 6 of Turner syndrome) of G4. In the normal karyotype fetuses the major cardiac defects were diagnosed prenatally and confirmed after birth in 2 cases of G3 and 5 cases of G4. Only 1 case of G4 developed bilateral hydronephrosis and thereafter hydrops in the third trimester. No structural abnormalities were detected in G1 and G2 fetuses with normal karyotype. Conclusions: The prevalence of chromosomal and cardiac anomalies increased with the thickness of NT. A detailed ultrasound examination, especially fetal echocardiography, should be offered even if the karyotyping proved normal. The long-term prognosis appeared normal if the fetus with thick NT had normal karyotype and no structural abnormalities.

P12.15: The non‐visible stomach in routine malformation screening—not a good indicator of esophageal atresia

Objectives: The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group. In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders, 372 different conditions were listed in 37 groups defined by such molecular, biochemical, and/or radiographic criteria. Many of them can present in the prenatal period as demonstrated by ultrasound. We report the prenatal diagnosis of skeletal dysplasias in three centers over 5 years period. Methods: Over 21,000 scans in three centers of prenatal diagnosis were made for suspect of skeletal displasya or routinary scan during 2004–08 period. In the most of cases the invasive prenatal diagnosis (chorionic villus sampling/amniocentesis) was performed and the final diagnosis was sought on the basis of fetopathological examination, radiographic studies and molecular testing. Results: A total of 70 antenatal skeletal dysplasias were diagnosed. Follow-up was in all cases, also if the parents decided to stop the pregnancy. The mean gestational age at US diagnosis was 24 wks (12–35 wks). The lethal skeletal dysplasias were diagnosed in the second trimester, instead the diagnosis of limb reduction was possible in the first trimester. Were diagnosed 31 cases of skeletal dysplasia (44,2%), 24 cases of limb reduction (34,2%), arthrogryposis 5 cases (7,1%), amniotic band lesion 5 cases, unexplained skeletal 5 cases (without diagnosis), dysplasia/limb defect 5 cases. A correct antenatal diagnosis was made in 55 cases (78,5%). Conclusion: A specific prenatal diagnosis is not possible in 20/30% of the cases. The diagnosis on the basis of specific pathology is made in a large period of the pregnancy (12–35wks). For an immediate management, assessment of prognosis (95%) is of more value by US plus molecular diagnosis. The definitive diagnosis is made postnatally based on clinical, radiographic, CT criteria and molecular analysis.

OP07.08: Absent septum pellucidum. Associated anomalies and clinical findings in 10 cases

1Neuropsychology & Rehabilitation, The Academic College of Tel-Aviv-Yafo, Tel Aviv, Israel; 2Neuroradiology, Sheba Medical Center, Ramat Gan, Israel; 3Pediatric Radiology, Tel Aviv Medical Center, Tel Aviv, Israel; 4Genetics Institute, Wolfson Medical Center, Holon, Israel; 5Neuropsychology, Leowenstein Rehabilitation Center, Raanana, Israel; 6Pathology, Sapir Medical Center, Kfar Sava, Israel; 7Pediatric Neurology, Wolfson Medical Center, Holon, Israel; 8Prenatal Diagnosis, Wolfson Medical Center, Holon, Israel; 9Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

OP07.06: Agenesis of corpus callosum: sonographic findings, associated anomalies and pregnancy outcome. A survey of 43 cases

1Neuropsychology & Rehabilitation, The Academic College of Tel-Aviv-Yafo, Tel Aviv, Israel; 2Neuroradiology, Sheba Medical Center, Ramat Gan, Israel; 3Pediatric Radiology, Tel Aviv Medical Center, Tel Aviv, Israel; 4Genetics Institute, Wolfson Medical Center, Holon, Israel; 5Neuropsychology, Leowenstein Rehabilitation Center, Raanana, Israel; 6Pathology, Sapir Medical Center, Kfar Sava, Israel; 7Pediatric Neurology, Wolfson Medical Center, Holon, Israel; 8Prenatal Diagnosis, Wolfson Medical Center, Holon, Israel; 9Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

OP07.02: Uterine artery Doppler at early screening—comparison to second‐trimester screening

Methods: Retrospective analysis of 11–14 weeks uterine artery Doppler findings in 73 singleton pregnancies with spontaneous preterm labor and 2417 pregnancies delivered at term. Cases with fetal chromosomal or structural abnormalities, pre-eclampsia, smallfor-gestational-age fetuses, concurrent maternal disease, cervical cerclage or history of cone biopsy were excluded. Results: The uterine artery mean resistance index (RI) was 0.69 (coefficient of variation 17%) and 0.68 (19%) in the preterm and term delivery group, respectively (p = 0.41). The mean pulsatility index (PI) was 1.42 (39%) and 1.42 (46%) in the term and preterm delivery group, respectively (p = 0.96). Bilateral diastolic notches were present in 34% of preterm deliveries and 33% of controls (p = 0.84). Restricting the analysis to the 19 pregnancies with preterm delivery before 34 weeks of gestation, no significant difference with controls was observed for RI (mean 0.71, coefficient of variation 11%, p = 0.41), PI (mean 1.56, coefficient of variation 29%, p = 0.27) or the number of bilateral notches (42%, p = 0.41). Conclusion: Despite pathological evidence suggesting that defective placentation is associated with spontaneous preterm delivery, first-trimester uterine artery resistance, as assessed by Doppler ultrasound investigation, is not different in pregnancies subsequently complicated by preterm labor compared to pregnancies delivered at term.