J. C. Shin

P47.15: Turner syndrome with gastroschisis: a case report

the pregnancy after multidisciplinary consultation including genetic counseling. At 38 weeks gestational age, the patient delivered a 2956 g male neonate with Apgar scores of 6–9 at 5 and 10 minutes, respectively. In the neonatal physical examinations found penis length of few mm with left cryptorchidism. Neonatal testosterone concentration was 3 ng/mL. HCG treatment was started and circumcision was delayed. This case is unique in the very early diagnosis of severe micropenis.

OP23.05: Clinical Efficacy of XI VOCAL in cervical volume measurement for the prediction of postterm induction of VBAC in Korea

E2 (PGE2). The protocol of induction with PGE2, consisted in the administration of 0.5 mg endocervical every 6 hours until a maximum dosage of 1.5 mg. Failed induction was defined as the failure to progress to the active phase of labor. Univariate and multivariate logistic regression model was conducted for the evaluation of the capacity of the tests for the prediction of successful labor induction. Results: Successful labor induction was achieved in 61.9% (44/71) of the cases. HDP consisted in gestational hypertension (74.6%), mild preeclampsia (16.9%), chronic hypertension (5.6%), and severe preeclampsia (2.8%). BS was higher in successful labor induction cases (3.2 vs. 1.1; mean difference (MD): 0.67 (95% CI: 0.8–1.12)). CL were lower in successful group, but not statistically significant (29.6 vs. 32.3; MD: −2.7 (95% CI: −5.7–0.3). The proportion of positive FF in the successful group was 45% (20/44), and the proportion of negative FF in the failed group was 70.4% (19/27). Univariate regression analysis showed with the mean values of the successful cases for BS an odds ratio (OR) of 1.66 (95% CI: 1.05–2.63, P = 0.030) and for CL an OR of 0.94 (95% CI: 0.87–1.01, P = 0.113). A negative result of FF was associated with an OR of 1.97 (95% CI: 0.71–19.8, P = 0.188). Multivariate analysis implying all the tests was not significant and did not improve the overall prediction of successful labor. Conclusions: In gestations complicated with HDP at term, the only parameter to predict successful labor induction is the BS. Information about CL and FF do not seem to supply potentially useful information to the clinician.

P36.03: Predicting fetal growth restriction with liver volume by three-dimensional ultrasound in Korea

Conclusions: One third (31% of fetal deaths and 27% of neonatal deaths) of the national perinatal death ocurred in a population classified as SGA at birth. Antenatal diagnosis and manegment of this condition remains a key issue in strategies to improve perinatal health. Population based birthweight curves should be used for neonatal clasification. Ratially differences at birth under same social factors remains to be stablished. Metodologically a prescriptive and prospective ultrasound curve should be constructed for individual and clinical risk assignment including enviromental variables

P44.23: A variant of Pena‐Shokeir syndrome

Objectives: Describe the sonographic findings in assessment of the chondroectodermal dysplasia. Methods: Descriptive study of two cases with chondroectodermal dysplasia diagnosed in our center. Maternal fetal medicine specialists performed the prenatal ultrasound and postnatal follow-up was obtained in all cases. The two cases were presented to the Prenatal Diagnosis Committee. Results: The skeletal dysplasias correspond to 12% of the cases evaluated in our unit between 2003 and 2006. We had two cases of Ellis-van Creveld syndrome in 23 520 live births, with incidence 1/11 760. In our cases we had CNS, facial, heart and limb anomalies. We present the images in ultrasound and postnatal correlation. Anomalies associated to the Ellis-van Creveld syndrome involve the three germinal lines: ectodermic dysplasia (affects tooth, nails, hair and lips), mesodermal dysplasia (affects bones, heart and kidneys) and endodermic dysplasia (affects liver and lungs). For the diagnosis, it is necessary to meet three of the four criteria: ectodermic dysplasia, chondro-dysplasia, postaxial polydactyly and congenital heart disease. Conclusion: The prenatal assessment of suspected skeletal dysplasias using ultrasound presents great challenges both in assigning an accurate prognosis. Our experience shows that the adequate knowledge of features of this type of skeletal dysplasia and sequential ultrasound examination raise the possibility of accurate diagnosis.

P44.18: Restrictive dermopathy : lethal tight skin contracture syndrome

Methods: Descriptive study of cases with diagnosis of Jarcho – Levin Syndrome in our unit. Results: Two fetuses with diagnosis of Jarcho – Levine Syndrome were diagnosed in our unit in two consecutive pregnancies in women that were complicated by the autosomal recessive form of spondylothoracic dysplasia. The prenatal ultrasound features were multiple vertebral and rib malformations. These anomalies produce a specific corporal shape like a ‘crab’. This form of the body and elevate nuchal tranlucency is one of the most important markers in 11−13+6 ultrasound. Conclusion: Prenatal diagnosis allows for parental counseling and the possibility of the termination of pregnancy if the lethal type of spondylothoracic dysplasia is diagnosed prior to fetal viability.

P44.05: Feingold syndrome with ring chromosome 13

Beckwith-Wiedeman Syndrome (BWS) is a rare genetic overgrowth disorder associated with various fetal structural anomalies. It affects approximately 1/14000 births. More frequent fetal features are macrosomia, abdominal wall defect, macroglossia, visceromegaly and associated polyhydramnios. In affected child a few case reports describe elevated alpha-fetoprotein (AFP) levels related to hepatoblastoma or mesenchymal hamartoma of the liver. A thirty-year-old patient, gravida 3, para 2, was referred to our unit at 34 weeks + 5 days gestation, for fetal macrosomia. The scan confirmed a macrosomic fetus and a 3D/4D scan of the fetal face showed a protruding macroglossia and a fixed opened mouth caused by an increased tongue thickness. Hepatomegaly, nephromegaly, cardiomegaly and polyhydramnios were visualized. The patient had performed a second trimester maternal serum screening, giving a Down Syndrome risk of 1 : 6085 and an elevated AFP level (3.05 MoM). On the basis of ultrasound scan a BWS was suspected. A female newborn was delivered by Cesarean section at term. Clinical evaluation of the neonate confirmed the prenatal features and BWS. The liver scan revealed hepatomegaly with no evidence of liver tumors. AFP was checked after birth and remained elevated. A surgical tongue reduction was performed. Follow-up at 12 months confirmed elevated AFP levels without evidence of liver tumors. Prenatal diagnosis of BWS is important to prevent hypoglycemia that occurs in 30–50% of affected neonates. In our experience when an elevated second trimester serum AFP is associated with fetal macrosomia at the twenty weeks scan a BWS should be included in the possible diagnosis. 3D/4D ultrasound evaluation of fetal face and tongue may be useful in the visualization and definition of macroglossia and viscera size. Elevated serum AFP level in fetuses affected by BWS is not always associated with liver tumors and therefore more causes should be searched for this feature.

P04.16: A case of fetal hydrops in maternal Sjogren's syndrome with distal renal tubular acidosis

Subsequently, one family disclosed a positive history of Marfan. The father had previous aortic root surgery for aortic dissection and ectopia lentis. In the twin pregnancy, the father is 1.90 m tall and had undergone echocardiography showing features suggestive of Marfan. In the other two families, there was no clear history of Marfan. The findings of dilated AAo in the fetus may be an indicator of prenatal manifestation of Marfan and a search for family history should be made. Aortic measurements should be verified by objective indicators such as Z-scores.

P11.03: Prenatal diagnosis of a de novo balanced translocation (4; 6) (q21.3; q21) associated with the Dandy-Walker malformation in the fetus

and 92.3%. The detection rate for trisomies 21, 18, 13 was 88.9% and 75% with a specificity of 95.4% and 91.8%. When NT and DV were done between 10–13 weeks’ gestation the detection rate was 77.8% and 85.7% with a specificity of 95.5% and 92.1%. Between 14–16 weeks’ gestation the detection rate was 66.7% and 75% with a specificity of 96.8% and 93%. The detection rate for pregnancies in women under 35 years of age was 85.7% and 71.4% with a specificity of 95.8% and 93.2%. For pregnant women above 34 years was 62.5% and 100% with a specificity of 96.1% and 90.9%. Conclusions: Our results suggest that the evaluation of NT thickness and DV blood flow assessment at 10–16 weeks’ gestation is a useful tool in the screening for a chromosomal defects in multiple pregnancies.

P11.14: Familial Silver‐Russell syndrome

The Silver-Russell syndrome (SRS) is characterized by severe intrauterine growth restriction, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. A woman was transferred to our hospital due to decreased maternal serum α-fetoprotein (0.185 MoM), human chorionic gonadotrophin (0.128 MoM) and unconjugated estriol (0.775 MoM) at 16 weeks of gestation. Initial ultrasonographic findings showed oligohydramnios. But serial antenatal sonographic findings showed severe asymmetric intrauterine growth restriction (preserved head circumference, small abdominal circumference, and short femur) and both hydronephrosis with progressive oligohydramnios. Cytogenetic studies with GTG-banding by amniocentesis showed 46 XX, inv (9) (p11q13) and fetal karyotype was in paternal origin. On past history, the previous sibling of the fetus also showed severe asymmetric intrauterine growth restriction (31 weeks sized biparietal diameter, 25 weeks sized abdominal circumference, and 28 weeks sized femur length) with oligohydramnios at prenatal ultrasonography. After birth, she was diagnosed as SRS due to large cranium, broad forehead, microretrognathia, clinodactyly, and short philtrum with low birth weight and postnatal growth below to 2 SD from the mean. She died at 10 months of her age. At 26 weeks of gestation, fetal death in uterus was diagnosed and the fetus was delivered by labor induction. Autopsy findings showed asymmetric low birth weight (less than 5th percentile) with characteristic small triangular face, low set ears, clinodactyly and downward slanting corners of mouth. On the basis of these evidences, we diagnosed that this case was also SRS. We report a case of familial Silver-Russell syndrome with literatures.

P14.50: The vesicoallantoic cyst diagnosed by prenatal ultrasonography

Objectives: to assess the outcome of isolated agenesis of the ductus venosus with extrahepatic drainage of the umbilical vein (ADV). Methods: Review of the prenatal and postnatal data of all infants with an antenatal diagnosis of isolated ADV that were delivered in our unit between 2000 and 2003. Results: Six cases of isolated ADV were retrieved for analysis. In all cases, antenatal sonography demonstrated severe cardiomegaly and polyhydramnios without evidence of hydrops. Infants were delivered by elective cesarean section between 32 and 37 weeks. Two of the six infants had an uneventful neonatal course. In 4 cases persistent pulmonary hypertension was diagnosed with echocardiography. In two of these cases hypertension was severe and required inhaled nitric oxide. In the remaining 2 cases mechanical ventilation and vasoactive amines were effective in treating the hypertension. Outcome was good in 5 cases; in one severe encephalomalacia followed profound hypoxemia during crisis of pulmonary hypertension. To our knowledge this is the first report of severe pulmonary hypertension in newborns with ADV. We suggest that two pathogenetic factors can explain this association: 1) increased preload probably results in increased pulmonary blood flow which in turn may decrease nitric oxyde production thus favouring pulmonary vasoconstriction; 2) extrahepatic umbilical vein drainage may result in liver hypoxia and reduction in the metabolism of vasoactive substances. Conclusions: ADV is associated with intrauterine heart failure. This may be related to increased preload as a consequence of the bypass of the liver circulation and in fetuses with evidence of cardiac compromise anticipation of delivery may be life-saving. We have found that infants with ADV diagnosed in utero are also frequently affected by pulmonary hypertension that may be severe. Timely and aggressive treatment of this complication can lead to normal outcome.