L. C. S. Bussamra

Cervical gland area as an ultrasonographic marker for preterm delivery

Objective: To assess the association between spontaneous preterm delivery (SPTD) in the general population and the measurement of the cervix length, cervical funneling, and absence of the cervical gland area (CGA).

Chromosomal and cardiac anomalies in fetuses with intracardiac echogenic foci.

Objective: To evaluate the prevalence of intracardiac echogenic foci (ICEF) and the association between ICEF and chromosomal and cardiac anomalies in Brazilian women.

Prenatal diagnosis of a large epignathus teratoma using two-dimensional and three-dimensional ultrasound: correlation with pathological findings.

Epignathus teratomas are rare tumors that originate in the region of the palate or pharynx and are known as Rathke pouch. They may be associated with other malformations such as a cleft palate and bifid tongue or nose. The prenatal diagnosis can be established by two-dimensional ultrasonography showing a heterogeneous mass protruding through the mouth of the fetus. The three-dimensional ultrasonography in rendering mode permits better understanding of this anomaly by the parents, facilitating the counseling. The importance of prenatal diagnosis lies in the fact that this tumor may obstruct the airways, thus leading to death at birth due to respiratory insufficiency. We report a case of prenatal diagnosis of epignathus teratoma in the 30th week of pregnancy by two-dimensional ultrasonography. We focus on the importance of three-dimensional ultrasonography in rendering mode for demonstrating the spatial relationships of the tumor with the oral cavity and provide correlations between the ultrasound images and the anatomopathological findings.

P02.32: Spinal muscular atrophy and increased nuchal translucency—case report

congenital contractural syndrome type 2 (LCCS2) (OMIM 607598) which is also associated with renal and cardiac malformations. A genome-wide linkage analysis, demonstrating linkage to approximately 6 cM homozygosity region on chromosome 12q13 between markers D12S1604 and D12S83, was found. Therefore, early genetic detection of this syndrome is possible. However, many patients known to be carriers of this genes deny an invasive procedure and in others this genetic diagnosis is not found. Thus, sonographic detection may be the sole tool for early detection of this abnormality. The sonographic appearance of LCCS2 in our area may appear late in second trimester and early sonographic diagnosis may be important in counseling these patients, Lately, we have sonographically diagnosed 3 patients in the fetal malformation clinic at 13–14 weeks gestation. The main sonographic symptom was myoclonic jerks of hands and feet of these fetuses. Hands were flexed in the elbow joints and the jerks were from the shoulder girdle. Jerks were from the hip joint. At that time no joint contractures were apparent. These appeared only at 17 weeks gestation. In summary, tonic myoclonic jerks are demonstrated sonographically and can be an early neurologic sign for hypokynesia/akinesia syndrome. Future sonographic observations in first trimester should be offerred to high risk patients prone to neurological accidents and congenital malformations.

P01.03: Reproducibility of the fetal nasal bone length measurement

Objective: To determine the effect of first-trimester screening on the amniocentesis rate and the detection rate of fetal aneuploidy in a high risk population. Methods: We began to offer first-trimester screening (nuchal translucency, PAPP-A, and free beta HCG) to women at increased risk for fetal aneuploidy (mainly age 35 or older) in March 2002. We retrospectively reviewed the prenatal records of women who registered to deliver at Massachusetts General Hospital and who underwent a genetic amniocentesis during two time periods: prior to, and subsequent to, offering first-trimester screening. We also reviewed the cytogenetics database to identify all cases of fetal aneuploidy during the two time periods. Results: Data were collected over 13 months from each time period. The number of deliveries were similar (3174 and 3505 in calendar years 2000 and 2003, respectively) as were both the mean (30.1 and 31.0) and median (30.8 and 31.7) maternal age. There were 531 amniocenteses in the earlier period and 344 in the later period, a 35% decrease. Detection rate for fetal aneuploidy was 14/15 in the earlier period and 16/20 in the later period. The single undetected case in the earlier period was trisomy 21 in a 36 year-old woman who was not screened. In the later period there were 3 undetected cases trisomy 21, all to women who declined amniocentesis despite age > 35 and either increased risk on second-trimester serum screen (1 case) or abnormal findings on second-trimester ultrasound (2 cases). There was also a case of Turner’s syndrome in a 40 year-old woman who had a negative second-trimester serum screen. In the later period 5 cases of fetal aneuploidy were detected based on abnormal findings at first-trimester screening. Conclusions: The institution of first-trimester screening was associated with a 35% reduction in the amniocentesis rate without a demonstrable decrease in the detection rate of fetal aneuploidy.

EP03.06: Reference range for fetal tricuspid annular plane systolic excursion (TAPSE) measurement using spatiotemporal image correlation (STIC) M-mode in a Brazilian population.

G. Tedesco4,5, L.C. Bussamra4,5, L.C. Rolo1, F.S. Barros1, W.P. Martins4,3, L. Nardozza2, A.F. Moron4, E. Araujo4 1Department of Obstetrics, Federal University of São Paulo-UNIFESP, São Paulo, Brazil; 2São Paulo Federal University, São Paulo, Brazil; 3Department of Obstetrics and Gynecology, Medical School of Ribeirao Preto, University of São Paulo, Ribeirao Preto, São Paulo, Brazil; 4Department of Obstetrics, Paulista School of Medicine-Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil; 5Department of Obstetrics, Medical College Science of Santa Casa of São Paulo (FCMSCSP), São Paulo, Brazil

Assessment of free fetal DNA concentration in maternal plasma during the first trimester of pregnancy: comparative study between EDTA and PPT tubes – pilot study

Abstract Objective: To compare ethylenediamine tetraacetic acid (EDTA) tubes and plasma preparation tubes (PPT) for evaluating maternal plasma during the first trimester of pregnancy. Methods: A cross-sectional study was conducted on 24 male fetuses in women between 6 and 14 weeks of pregnancy. Blood samples (10 mL) were collected and stored in EDTA and PPT tubes. Subsequently, the samples were centrifuged and sent for free fetal DNA extraction by means of the polymerase chain reaction (PCR) technique. The reactions were performed in a real time PCR machine for detecting the amplification products. The genome region chosen for performing the PCR reactions was a target specific for the Y chromosome, in which the DYS-14 marker was amplified only when the DNA was of male sex. The free fetal DNA concentration was given by the threshold cycle (TC). To compare the tubes, the paired Student t-test was used. Results: The mean gestational age was 11.08 ± 2.30 weeks (range: 6–14). The mean TC for PPT was 30.08 ± 1.05 (range: 27.08–32.61) and for EDTA, 30.23 ± 0.96 (range: 28.01–32.09), but without statistical significance (p = 0.357). Conclusion: We did not observe any statistically significant difference in free fetal DNA concentration between the EDTA and PPT tubes.

OP25.06: Effects of the cerclage on cervical length estimated by transvaginal ultrasound and the impact of these variations on prematurity

S. E. Taher1, M. Chandiramani2, P. Soutter1, S. Arulkumaran, J. Eliahoo4, T. Teoh3, S. Hassan3, A. McIndoe1, A. Shennan2, P. R. Bennett1 1Obstetrics and Gynaecology, Imperial College, London, United Kingdom; 2Obstetrics and Gynaecology, ST Thomas’ Hospital, London, United Kingdom; 3Fetal Medicine, St Mary’s Hospital, London, United Kingdom; 4Staistical advisory department, Imperial College, London, United Kingdom

P01.17: The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings-a case report: Poster abstracts

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.

P10.06: Mild ventriculomegaly in the second trimester US scan and MRI: three rare diagnoses

Primary renal agenesis is not a diagnostical challenge as oligohydramnios is almost always present at the time of the anomaly scan. In contrast secondary (or progressive) renal agenesis (e.g. in multicystic dysplastic kidney) is frequently missed as kidneys are present but smaller in size and they tend to vanish with advancing gestational age. We present a case of a 24-year-old woman, gravida 1 para 0, referred to our center at 24+3 weeks’ gestation for suspicion of IUGR and oligohydramnios. Ultrasound showed a small multicystic left kidney. The right kidney could not be visualized. In view of the challenging scan conditions and the fact that normal kidneys were documented on previous exams a fetal MRI was requested. This case stresses the possibility of MCDK and other forms of cystic renal dysplasia in fetuses with oligohydramnios – even if a normal urinary tract was visualized on earlier exams. From our experience MRI as an alternative to amnioninfusion was decisive in confirming the diagnosis.