First Trimester Screening Tests [İlk Trimestre Tarama Testleri]

Screening for chromosomal anomalies in pregnancy is widely practiced throughout the world. Screening for trisomy 21, often in conjunction with screening for neural tube defects, by measuring second trimester maternal serum biochemical markers, has become an established part of obstetric practice in many countries. Although trisomy 21 screening protocols vary between different centers, the average detection rate in prospective studies has been 64 % (range 48-75 %) for a false positive rate of about 5 %. During the last decade, extensive research has demonstrated that effective screening in the first trimester of pregnancy for chromosomal abnormalities can be achieved by assessing levels of maternal serum free b-hCG and pregnancy associated plasma protein-A (PAPP-A) and the ultrasonographic measurement of fetal nuchal translucency. Screening by fetal nuchal translucency reaches a detection rate of about 73 % for trisomy 21 with a 5 % false positive rate. Subsequently, it is estimated that a combination of fetal nuchal translucency with maternal serum free B-hCG and PAPP-A would increase the detection rate to about 90 % for trisomy 21 and also allow the detection of 90 % of other chromosomal abnormalities, including trisomy 13, trisomy 18, Turner syndrome and triploidy. The advent of rapid immunoassay tests has enabled the development of multidisciplinary techniques to replace invasive prenatal diagnostic methods and their inherent risks to the mother and the fetus with noninvasive alternatives. The isolation of fetal cells and DNA from the maternal circulation represents a promising noninvasive approach to prenatal diagnosis. Advances in molecular biology have provided new and sensitive tools for detecting and confirming the existence of fetal cells. However, because of the inconsistent number of fetal cells found in maternal circulation, these techniques have not yet entered routine clinical practice. In this manuscript, we have reviewed and discussed the developments in first trimester screening and noninvasive prenatal diagnostic techniques

Pelvic septic trombophlebitis after hysterectomy: A case report [Histerektomi sonrasi pelvik septik tromboflebit: Olgu sunumu]

A case of pelvic septic trombophlebitis, which is a rare complication of gynecologic surgery is presented. In the diagnosis of this clinical entity ultrasonography, computed tomography or magnetic resonance is helpful, but mostly diagnostic laparoscopy must be performed to make a definite diagnosis. In the treatment, antibiotics combined with low molecular weight heparins are the first choice. In this case report the diagnosis and clinical management of a rare postoperative complication; pelvic septic trombophlebitis is being discussed

Statins have additive effects to vertebral bone mineral density in combination with risedronate in hypercholesterolemic postmenopausal women

Background: Recent data suggest that statins used in the treatment of hypercholesterolaemia decrease fracture risk. In this study, we aimed to investigate prospectively whether statins have an additive effect to bisphosphonates (risedronate) according to the primary hypothesis that the addition of atorvastatin to risedronate would produce an increase, from baseline, in lumbar vertebrae and total hip BMD that was greater than that observed with risedronate alone. Methods: A total of 120 hypercholesterolaemic postmenopausal women with osteoporosis or osteopenia were randomized to receive risedronate (5 mg/day) or risedronate (5 mg/day) plus atorvastatin (20 mg/day). Changes in bone mineral density in the lumbar spine and hip, and serum lipid and glucose metabolism changes were assessed. Results: Compared with risedronate alone, at 6 months, risedronate plus atorvastatin produced significantly greater increases in the bone mineral density of the lumbar spine (1.58% versus 0.75%, p < 0.05). We found no difference after therapy in BMD of the total hip (1.2% versus 1.1%). Risedronate plus atorvastatin therapy had favorable effects on the serum lipid profile: LDL and total cholesterol. Serum fasting glucose and HbA1c levels were not affected during the treatments. Conclusion: Statins have modest additive effects to bisphosphonates in improving lumbar spine bone mineral density in hypercholesterolaemic postmenopausal women with established osteoporosis-osteopenia. A long-term study with adequate sample size is necessary to assess the effects of statins - in combination or alone - on the bones and prevention of fractures. © 2004 Elsevier Ireland Ltd. All rights reserved

Is Pipelle biopsy really adequate for diagnosing endometrial disease?

Backgound: The purpose of our research was to determine the reliability and accuracy of the Pipelle device in acquiring an adequate and representative endometrial sample and to compare it with D&C histology. Material/Methods: A total of 127 women were prospectively included in the study. After Pipelle endometrial sampling, classic dilatation and curettage (D&C) was performed. The histological results of both techniques were compared to assess the accuracy of Pipelle sampling. Prior to endometrial sampling, transvaginal ultrasonography was performed to determine endometrial thickness and pathological lesions, and to exclude other pathologies confined to the pelvis. The outcome measures were specimen adequacy and comparability of histological diagnosis between the Pipelle specimen and the D&C specimen. Results: Although no patient had a failed biopsy procedure, 13 patients had insufficient tissue in the D&C group, and 29 patients in the Pipelle group. In 100 of 127 patients (79%), the Pipelle endometrial histology results were in agreement with the D&C histology results. Pipelle biopsy was unable to diagnose 1 of 5 endometrial hyperplasia cases. Conclusions: The Pipelle device is a limited endometrial sampling technique for obtaining an adequate and representative endometrial sample. It should be reserved for those patients in whom there is only a minimal risk for endometrial carcinoma, hyperplasia and polyps. Any failure to obtain an endometrial specimen would suggest performing a full endometrial curettage, especially in anamnestically- and sonographically- determined patients at high risk for endometrial cancer

Meckel Gruber syndrome: A first trimester diagnosis of a recurrent case

We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented. Copyright © 2002 Elsevier Science Ireland Ltd

Physiological color Doppler sonographic changes of the embryonic and uteroplacental vessels in early pregnancy

Objective. To evaluate the changes of uteroplacental, fetal aorta and umbilical circulation during early pregnancy (from 7 to 16 weeks' gestation) in non-complicated pregnancies. Material and methods. A 5-MHz broad-band transvaginal sonographic transducer combined with pulsed color Doppler was used to scan 42 healthy volunteer pregnant women. Results. Vascular impedance to blood flow in all examined vessels decreased significantly throughout the first gestational trimester Resistance to flow was highest in the main uterine artery and decreased towards the spiral artery. When the flow velocity waveform patterns of the arteries under investigation were analyzed, specific changes were observed. In all cases during early gestational development, an early diastolic notching was determined in the uterine arteries. The flow velocity waveforms of the fetal aorta and umbilical artery were similar: until week 10 the arteries were typically without diastolic flow. From week 16 onwards, diastolic velocities were present in all signals at the fetal aorta and umbilical artery Conclusion. Fetal and uteroplacental velocities increase gradually during early pregnancy, and velocimetric indices show a progressive decrease of the fetal and uteroplacental resistances. However, Doppler sonography in the first trimester of pregnancy is not a routine diagnostic tool, although it has potential to reflect the pathophysiological changes in early pregnancy

Dyspeptic complaints after 20 weeks of gestation are not related to Helicobacter pylori seropositivity

Background: This study was to test whether an association exists between Helicobacter pylori seropositivity and severity of dyspeptic symptoms after 20 weeks of gestation in pregnant women. Material/Methods: Pregnant women (n=103) with gestational ages between 20-41 weeks and healthy non-pregnant women (controls, n=79) were prospectively enrolled in the study. Anti-H. pylori IgG serum antibody was tested to establish seropositivity. The dyspeptic symptoms were evaluated by the Glasgow Dyspepsia Severity Score in the pregnant group and classified as asymptomatic (score 0), mildly symptomatic (score 1-5), and severely symptomatic (score ?6). The severity of dyspeptic symptoms was compared in pregnant women with H. pylori seropositivity, and pregnant and non-pregnant women were compared for H. pylori seropositivity and prevalence of dyspeptic symptoms. The results were analyzed using Student's t, Mann-Whitney-U, and chi-square tests. Results: The prevalence of H. pylori seropositivity was not different among pregnant and non-pregnant women. The median dyspeptic scores were 5 and 4, respectively, for H. pylori seropositive and negative pregnant women. Dyspeptic scores of H. pylori seropositive pregnant women were not different from those of uninfected pregnant women. H. pylori seropositivity did not differ among asymptomatic and mildly and severely symptomatic pregnant women. The non-pregnant women were more often asymptomatic than pregnant women. Conclusions: Our findings do not support any association between H. pylori seropositivity and severity of dyspeptic symptoms in late pregnancy. It seems unreasonable to screen women in late pregnancy for H. pylori seropositivity, even if they suffer from severe dyspeptic symptoms. © Med Sci Monit, 2005

Fatal course of acute monocytic leukemia at second trimester of pregnancy

Background: Leukemia is a rarely encountered disease during pregnancy, and it is hard to manage. Acute myeloid leukemia accounts for almost 60% of all leukemias during pregnancy. It is related with poor prognosis for both pregnant and the fetus. Treatment strategies differ according to the gestational week. Without considering pregnancy at all weeks, immediate appropriate treatment is advised. Case Report: We present a case of acute monocytic leukemia which is diagnosed at 17th week of gestation. Patient has been referred because of thrombocytopenia and leukocytosis during pregnancy. Although proper treatment was initiated immediately after the diagnosis, patient died due to progression of disease in few days, probably due to intracranial hemorrhage. Conclusions: Thrombocytopenia and leukocytosis are important signs of the hematological malignancy and needs urgent management

Perinatal risk factors for neonatal intracerebral hemorrhage in preterm infants

Objective: To investigate the perinatal factors related to neonatal intracerebral hemorrhage (ICH) and possibly to define obstetric and perinatal risk factors. Study design: All medical records of women who delivered in the period from 1 January 1991 to 1 January 2000 were reviewed for intracerebral hemorrhages in infants born between 24 and 34 weeks of gestation and treated in the postnatal period. Sixty infants with ICH (Group I) and 60 infants without ICH (Group II, matched controls) were determined for comparison. Obstetrical parameters and risk factors and perinatal outcome parameters were evaluated and statistically analyzed. Results: Neonatal intracerebral hemorrhage prevalence was 0.8% (60/7635 births). Betamethasone administration was significantly less in Group I than in Group II (27% versus 46%). Although Doppler-sonography of the middle cerebral artery was performed in a minority of the cases, it showed a significant tendency of lower resistance indices (brain sparing) in the intracerebral hemorrhage group (66.7% versus 21.1%). Postnatally, infants with intracerebral hemorrhage showed a significantly more often umbilical arterial acidosis (18% versus 10%), a greater base deficit, lower median 5 min Apgar scores (6 and 8, respectively for Groups I and II), and a lower thrombocyte count (Group I 190,000 ± 76,000 µl-1, and Group II 227,000 ± 96,000 µl-1). Infants in Group I were more often (93% versus 76%) and longer (26.7 ± 30.5 days versus 15.4 ± 11.7 days) dependent on ventilatory support than infants in Group II. Mortality rate in Group I (35%) was significantly higher compared to Group II (17%). Conclusions: Antenatal Doppler sonography in predicting intracerebral hemorrhage in preterm infants should be investigated in large scale prospective studies. Postnatal low pH-values (pH < 7.1) and a base deficit of more than -16 mmol/L in the umbilical artery, low Apgar scores and thrombocytopenia are associated with a neonatal intracerebral hemorrhage and prophylaxis with corticosteroids reduces the risk for it. A higher neonatal mortality and morbidity, including neurological and neuromotoric dysfunctions is expected in this clinical entity. © 2004 Elsevier Ireland Ltd. All rights reserved

Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings

Objective: To determine the associated diagnostic findings which are linked with adverse fetal outcome in nuchal cystic hygroma. Study design: Based on a series of 32 cases, we determined the sonographic morphology of the hygroma, associated structural anomalies, karyotypes and autopsy findings. Intrauterine fetal death, spontaneous abortion and abnormal karyotypes were assigned as adverse outcome parameters. Results: The mean gestational age at diagnosis was 14.4 weeks (range 10-21). There were 18 nonseptated and 14 septated hygromas. Besides hygroma, associated sonographic detectable structural anomalies were observed in 17 cases (53.1%). The greatest number of associated sonographic anomalies were hydrops (31.3%), generalised skin oedema (6.3%) and pterygium colli (6.3%). Cytogenetic analysis revealed an abnormal karyotype in 13 of 26 (50%) invasive procedures. Turner syndrome and Trisomy 18 (both 15.4%) were the most frequent cytogenetic abnormalities. Autopsy was performed in 24 cases and 16 cases (66.7%) had an associated autopsy finding to hygroma colli. The most frequent associated autopsy findings were limb and craniofacial anomalies (both 25%). Only 3 (9.4%) mothers gave birth to healthy newborns. The overall fetal adverse outcome rate was 68.8% (22 cases). Conclusions: Fetuses with NCH are at high risk for adverse outcome and detailed prenatal diagnosis including invasive procedures should be offered. According to the presented autopsy findings, to determine fetal outcome in NCH cases with normal karyotypes, detailed sonography should be concentrated beside the exclusion of fetal heart defects and existence of hydrops fetalis, on the skeletal, urogenital and craniofacial anomalies, as these might cause severe morbidity. © 2004 Elsevier Ireland Ltd. All rights reserved