P. S. Cossi

Medida do comprimento do osso nasal entre 11 e 15 semanas de gestação em uma população brasileira: estudo preliminar

OBJECTIVE: To establish reference values for fetal nasal bone length measurements between 11 and 15 gestational weeks in a Brazilian population. MATERIALS AND METHODS: A cross-sectional study was developed with 171 normal pregnant women between their 11th and 15th gestational weeks. The fetal nasal bone was measured by means of transabdominal ultrasound in all of the cases. The 5th and 95th percentiles for the nasal bone length were calculated by the formula: mean ± 1.645 standard deviation. The Spearman correlation coefficient with 95% confidence interval was utilized to correlate the nasal bone length with fetal anthropometric parameters. RESULTS: The nasal bone could be measured in all of the cases with the mean length ranging between 1.69 mm and 2.94 mm. Nasal bone length demonstrated to be strongly correlated with all of the fetal anthropometric parameters (p < 0.001) and with the gestational age (R² = 0.59). CONCLUSION: Despite the preliminary character of the present study, a reference range of fetal nasal bone length was established.

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.

Three dimensional sonovaginography to assess posterior fornix and rectovaginal endometriosis - a new approach: 3D US to assess the rectovaginal endometriosis

Deep infiltrating endometriosis (DIE) is characterized by foci of ectopic endometrial tissue, fibrosis and muscular hyperplasia that penetrate more than 5 mm into affected pelvic organs. Endometriosis of the rectovaginal septum (RVS-DIE) is the most severe form of DIE and has been described as endometriotic lesions that infiltrate both rectum and posterior vaginal fornix with possible extension to the rectovaginal septum.1 There are doubts regarding the definition and nomenclature involving this topography.2, 3 This article is protected by copyright. All rights reserved.

P04.03: The role of ductus venosus Doppler waveform in detection of fetus cardiac malformation in the first trimester of pregnancy

with NHA coexisting with trisomy 21. In normal fetuses Teiindex for LV was 0.41 ± 0.08 and for RV – 0.38 ± 0.1; ductus venosus PIs were unchanged; mean Ha/Ca was 0.21 ± 0.04 and Hc/Cc – 0.49 ± 0.18. Conclusions: 1. Successful visualization of the heart is possible from 11 weeks’ gestation. 2. Fetal heart size at 11.0 to 13.6 weeks is smaller comparing to second and third trimester. 3. Teiindex is measurable at 11.0 to 13.6 weeks and it’s value is similar to the published data of Tei-index in second and third trimester.

P01.31: Comparison of gray-scale and B-color ultrasound images in nasal bone measurement

genetic diagnosis (PGD) (N = 94), frozen embryos (N = 88) and those that had had vanishing embryos (N = 95) were also analysed. Fetuses with structural or chromosomal abnormalities were excluded. Results: NT MoM from naturally conceived fetuses did not differ from those obtained in ART pregnancies (P = NS). Similar NT MoM were found when comparing the different modalities of ART (P = NS). The use of PGD had no influence on the NT MoM (P = NS). ART pregnancies with and without vanishing embryos had also similar NT MoM (P = NS). ART pregnancies achieved using frozen embryos had slightly lower NT MoM compared to those obtained using fresh embryos (P < 0.03); but, no differences were found when compared to naturally conceived pregnancies (P = NS). Conclusions: NT measurements in ART singleton pregnancies do not differ from those obtained in naturally conceived singleton pregnancies. No adjustments are needed when assessing the NT in singleton fetuses achieved by ART.

P01.32: Ethnic variation of fetal nasal bone length between 11–14 weeks' gestation in Brazilian population

genetic diagnosis (PGD) (N = 94), frozen embryos (N = 88) and those that had had vanishing embryos (N = 95) were also analysed. Fetuses with structural or chromosomal abnormalities were excluded. Results: NT MoM from naturally conceived fetuses did not differ from those obtained in ART pregnancies (P = NS). Similar NT MoM were found when comparing the different modalities of ART (P = NS). The use of PGD had no influence on the NT MoM (P = NS). ART pregnancies with and without vanishing embryos had also similar NT MoM (P = NS). ART pregnancies achieved using frozen embryos had slightly lower NT MoM compared to those obtained using fresh embryos (P < 0.03); but, no differences were found when compared to naturally conceived pregnancies (P = NS). Conclusions: NT measurements in ART singleton pregnancies do not differ from those obtained in naturally conceived singleton pregnancies. No adjustments are needed when assessing the NT in singleton fetuses achieved by ART.

P02.39: Nuchal translucency in screening for congenital heart defects in chromosomally normal fetuses

decided to follow up the pregnancy during two weeks and perform the cordocentesis in this time, karyotópe was normal. At 26 weeks we found progressive changes in fetal anatomy: heart herniation became larger, left lobe of liver began to protruse, the absence of the sternum and cartilaginous parts of the ribs was confirmed. Patient was offered pregnancy termination because of the impossibility of surgical correction. Radiography, CT and morphology of abortus confirmed ultrasound diagnosis of isolated absence of the sternum and cartilaginous parts of the ribs.

P05.13: Selective reduction of conjoined twins at 13 weeks of a triplet pregnancy

As a consequence of increase in the rate of infertility treatment, the prevalence of complete hydatidiform mole (CHM) in multiple pregnancies has been found to be increased. However, a CHM associated with a quadruplet pregnancy is extremely rare, with only four reported cases in the literature. Here we report an unusual case of a CHM in a quadruplet pregnancy. A 26-year-old woman, gravida 2, para 0, was referred to our clinic at 10 weeks of gestation because of severe nausea and vomiting. This pregnancy was achieved by ovulation induction with hCG-hMG. Ultrasonography revealed four separate intrauterine gestation sacs. A live fetus appropriate to the gestational age was present in the first sac. There was a yolk sac and a fetus without cardiac activity in the second sac. Only a yolk sac without a fetal pole was visible in the third sac. The fourth sac was completely empty. Antiemetic and intravenous fluid therapy was initiated. Repeated ultrasound scanning at 12 weeks revealed multiple cystic echoes in the fourth sac. A case of CHM in a quadruplet pregnancy was diagnosed. Following massive vaginal bleeding, spontaneous abortion occurred two days later. CHM was confirmed at pathological investigation. During follow-up, total hCG levels showed an increase and the patient was diagnosed as having persistent trophoblastic disease without evidence of metastasis. The patient declined to receive methotrexate therapy and opted for hysterectomy. No recurrence was noted at one year of follow-up. We conclude that in a quadruplet pregnancy with CHM, taking into account maternal risks as well as the low possibility of living infant, termination of pregnancy is an appropriate choice. Although there was only one living fetus in our case, the natural course and complication did not differ from previously described cases. Feticide, although suggested as a possible intervention to achieve a living fetus, may not be beneficial in a quadruplet pregnancy with CHM.