Hana Viskova

Prenatally Diagnosable Differences in the Cellular Immunity of Fetuses with Down’s and Edwards’ Syndrome

Introduction: Lymphocyte subpopulations are identified by the uniform CD classification (Cluster of Differentiation) and can be accurately differentiated with monoclonal antibodies using the method of flow cytometry. With the aid of cordocentesis it is possible to perform studies on the status and development of cellular immunity as early as in the second trimester of pregnancy. Objective: To compare lymphocyte subpopulations present in fetuses with chromosomal abnormalities (Down’s syndrome (DS), Edwards’ syndrome (ES)) and fetuses with normal karyotype. Study Design: Prospective observational study. Methods: We examined a total of 61 pregnant women with an average age of 31.5 years (20– 46 years). Results: In fetuses with DS we found a significant decrease in B lymphocytes (CD19),a decrease in the subpopulations of multi-reactive B-cells (CD5+CD19+, B-CLL),and a decrease in the index of CD4/CD8 and class II HLA-DR. In contrast, the representation of NK cells expressing /CD3-CD (16 + 56)+/ was greatly increased. In ES we found a decrease in T lymphocytes (CD3), a decrease in T-helper lymphocytes (monocytes CD4), a decreased index of CD4/CD8 and a greater representation of NK cells /CD3-CD (16 + 56)+/. Conclusion: We determined the normal values of lymphocyte subpopulations in physiological fetuses. We demonstrated that the immunological defect of the affected fetuses is already present antenatally, and can be reliably diagnosed in the second trimester of pregnancy.

Plasma Cysteine Concentrations in Uncomplicated Pregnancies

Objective: To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. Methods: Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in the 30th to 32nd weeks. Plasma total cysteine, homocysteine, cysteinylglycine and glutathione were determined by HPLC method. Women were followed until delivery. Sixty-two pregnant women were normotensive throughout the pregnancy and 3 developed pre-eclampsia. Median levels of thiols in the second and the third trimesters were compared using paired t test. Results: Levels (median [range], µmol/l) of plasma total cysteine in normotensive pregnant women were significantly lower in the third than in the mid-trimester (176.1 [163.0, 189.4] vs. 187.4 [178.7, 205.2], p < 0.001). Concentrations of total homocysteine, cysteinylglycine and glutathione were not different. Conclusion: Plasma total cysteine (t-Cys) is significantly lower in the third compared to the second trimester. Urinary excretion of t-Cys does not differ in the second compared to the third trimester. The decrease of t-Cys might indicate that cysteine is essential for the fetus.

Prenatal Diagnosis of Occipital Dermal Sinus Associated with Hemangioma Using Ultrasound and MRI

Objective: We report a case of prenatal diagnosis and postpartum management of a subcutaneous tumor without intracranial communication. Methods: An occipital tumor without intracranial communication was found on ultrasound scan in the 21st week of pregnancy. Using MRI, the diagnosis was confirmed. Subcutaneous localization of the tumor was verified and communication with intracranial space excluded. Results: The newborn was delivered spontaneously at term and underwent a successful surgical procedure 5 months postpartum. Conclusion: The prenatal diagnosis allowed differentiation between a communicating neural tube defect with poor prognosis, and a manageable extracranial subcutaneous tumor. The precise diagnosis of uncomplicated dermal sinus was possible only after the histological evaluation of the tumor confirmed occipital dermal sinus associated with hemangioma.

OC009: Evaluation of combined first‐trimester screening ‐ Czech multi‐center study

K. Dlouha1, I. Kucerova1, P. Calda2, D. Smetanova3, M. Brestak4, A. Hudec5, H. Viskova2, D. Stejskal3, J. Turek5, I. M. Malbohan6 1Institute for the Care of the Mother and Child, Prague, Czech Republic, 2Department of Obstetrics and Gynecology, First Medical Faculty, Charles University, Prague, Czech Republic, 3Gennet, Centre for Genetics and Assisted Reproduction, Prague, Czech Republic, 4Pronatal, Centre for Assisted Reproduction, Prague, Czech Republic, 5Department of Obstetrics and Gynecology, Medical Faculty in Pilsen, Charles University, Pilsen, Czech Republic, 6Department of Medical Biochemistry, First Medical Faculty, Charles University, Prague, Czech Republic

OP04.17: Correlation between the myocardial performance index in the left ventricle and the gestational age in physiological pregnancy

and Doppler flow velocity waveforms of Umbilical Artery, Middle Cerebral artery, Ductus Venosus and Uterine arteries. Patients with adverse outcomes were excluded and all the women with normal outcomes were included for data analysis. Every two gestational weeks patients were grouped and for these groups, the 5th, 50th and 95th percentiles were calculated for the FO, and DA Peak systolic velocity (PSV) and Pulsatility Index (PI). Results: Gestation – specific reference ranges were constructed for the fetal intrauterine shunts. In normal pregnancies, PI of FO decreased and PI of DA was relatively constant with advancing gestation. However, the PSV of FO and DA increased linearly with gestational age. Conclusion: Reference ranges for fetal central intrauterine shunts have been established which may enhance our understanding of fetal compromise and aid in evaluating management of complications like fetal growth restriction as well as congenital cardiac malformations.

OP06.13: Evaluation of intrauterine fetal anemia with the use of regression line method

Group B included 24 subsequent pregnancies, that were managed by weekly administration of IVIG without monitoring platelet counts. The treatment started in the 18th–24th gestational week and was continued until delivery. Group C included 6 pregnancies, in which the women refused treatment despite our counselling. Results: All treated fetuses were delivered by elective c/s, except for three cases, in which vaginal delivery was achieved, after confirming a fetal platelet count above 50,000. The mean platelet count at birth after IVIG treatment was 118,000 (range 11,000–320,000), compared to 25,000 (range 8000–70,000) among the 17 first affected siblings and 24,000 (range 10,000–44,000) among the 6 infants whose mothers refused treatment (p < 0.005). Only 8% (2/24) of the treated fetuses had platelet counts of less than 30,000 at birth compared to 70% (16/23) of the untreated siblings (p < 0.05). None of the treated and nontreated fetuses had an abnormal brain ultrasonographic findings or an intracranial hemorrhage. Conclusions: Non-invasive management of alloimmune thrombocytopenia consisting of only immunoglobulin administration is highly effective and seems safe in women without a history of intracranial hemorrhage. Therefore, the value of performing cordocentesis and platelet transfusions is doubtful in view of its risk for the fetus, and the fact that IVIG therapy so effectively improves the fetal platelet count

P12.23: Outcome of 21 twin gestations after selective feticide of one malformed fetus in the second trimester of pregnancy

Objective: To report our initial experience with selective laser photocoagulation of the placental communicating vessels (SLPCV) in the treatment of severe mid trimester twin-to-twin transfusion syndrome (TTTS). Methodology: Eight cases of severe TTTS (6 monochorionic diamniotic twins and 2 dichorionic triamniotic triplets) diagnosed before the 26th week of gestation were managed by SLPCV, as Quintero reported in 1998, from November 2003 to February 2004. A 2 mm fetoscope and 600 ?m diode laser fibers were used through a 3 mm sheath inserted by ultrasound guidance. All procedures were performed under local anaesthesia. Main outcome items were perinatal survival and neurological morbidity up to the 28th day of postnatal life. Results: The median gestational age at laser was 20.3 weeks (range 18.2–24.5). 4 placentas were posterior and 4 were anterior, with a median number of 5 placental anastomoses (range 4–7). A median of 2175 ml (range 1500–4500) of amniotic fluid was drained, and the median time for performing the whole procedure, skin to skin, was 45 minutes (range 30–60). The overall survival rate was 66.7% (12/18), 2 (or 3) fetuses survived in 50% (4/8), and at least 1 fetus survived in 87.5% (7/8) of the cases. Excluding the case that miscarried at 24 hours after the procedure, the median gestational age at delivery was 30.5 weeks (range 27.1–35.5), with a median (range) weight of 1236 (675–2170) and 1359 (814–2280) grams for the donor and the recipient respectively. No single case of major brain damage was detected among the survivors up to the first month of life, as assessed either by clinical examination or by imaging techniques. Conclusion: Our initial results doing SLPCV in TTTS are comparable with those reported by others. Strict follow-up of children’s neurodevelopmental function is warranted, as we are aware that some neurologic deficiencies may not be evident at first month of life yet.)

P039: Nasal bone length as a marker of Down syndrome

Objective: To compare the sonographic findings of the nasal bone in fetuses with trisomy 21 with the pathomorphological findings and to define a standardised measurement of the nasal bone. Methods: 17 first trimester fetuses with trisomy 21 were identified with a median gestational age of 12 weeks (11–14), in women with a median age of 38 years (range 27–47). Transabdominal scan, preceding TA-CVS for karyotyping, included the assessment of the fetal nose. The nasal bone was assessed to be ‘‘hypoplastic’’ or ‘‘absent’’ and length was measured. All pregnancies underwent termination after diagnosis. Serial sagittal sections with HE-staining of formaline fixed tissue was performed. Results: Of the 17 cases, the nasal bone was sonographically present, but with severe hypoplasia in 10, absent in 6, and in the remaining case, not able to be assessed secondary to fetal position. In 16 cases a nasal bone was present, histomorphologically detectable by the evidence of an ossification center. In 1 case the ossification structure was not clearly visualized. Retrospective review of ultrasound images could identify nasal bones in 5 of the 6 cases initially reported as absent on ultrasound examination. These were visible, but less distinct and had decreased echogenicity. Misinterpretation led to the false finding of an ‘‘absent’’ nasal bone while it was present, but ‘‘hypoplastic’’. Conclusion: Sonographic assessment of the fetal nasal bone should not distinguish between ‘‘present’’ and ‘‘absent’’, but should be reported as ‘‘normal’’ or ‘‘hypoplastic’’. For reproducible results it is necessary to standardise the sonographic examination. The sonographic landmarks of the fetal nose are: the nasal bone, the skin above and the cartilaginous tip of the nose.