Cansun Demir

The genotoxic effect of nicotine on chromosomes of human fetal cells: The first report described as an important study

Context: Recent studies have suggested a direct contribution of nicotine − the addictive component of tobacco and tobacco smoke − to human carcinogenesis, and it remains the most common harmful substance to which pregnant women are exposed. Also, it has deleterious effects on the fetus. The sperm of smoking fathers and newborns of smoking mothers have elevated frequencies of chromosome translocations and DNA strand breaks. Objective: We tried to understand the genotoxic effect of nicotine in pregnancies of active or passive smoking mothers. For this reason, we provide the evidence that nicotine exposure in vitro has detrimental effects on fetal cells. Materials and methods: We examined the effect of nicotine sulphate on amniotic cells by designing an experimental setting consisting fetal cells grown in nicotine containing medium (25 ng/mL) in study group and fetal cells grown in control medium, which did not contain nicotine. Results: According to our findings, there is a significant difference of chromosomal aberrations (CAs) between nicotine containing medium grown cells and control medium grown cells, determined by the χ2 test (P <0.001). We found CAs in 21.5% of cells analyzed. The 19.4% of the all cells had numerical aberrations. Chromosomes 21, 22, 8, 15 and 20 related numerical abnormalities were found to be the most frequent numerical abnormalities. Conclusion: Results of this study confirm that the nicotine leads to significant direct genotoxic effects in human fetal cells in vitro. We speculate that there is an association between prenatal exposure to cigarette smoke and in utero aneuploidies.

Prenatal Determination of the Upper Lesion Level of Spina Bifida with Three-Dimensional Ultrasound

Introduction: To evaluate the role of three-dimensional (3D) sonography in the prenatal detection of the upper pole in fetuses with spina bifida. Material and Methods: Women admitted to a tertiary center with pregnancies with isolated open spina bifida were enrolled in the study. All fetuses had 3D sonography to predict the lesion level. The exact lesion level was ascertained using radiography and/or autopsy following the delivery at term or abortion. Results: Forty-eight cases were eligible for this study. Twenty-eight fetuses were diagnosed in the second trimester and the lesion level was precisely predicted in 24 (86%) of them. In 14 (70%) of the 20 fetuses diagnosed in the last trimester, the level was accurately determined. The remaining 10 fetuses, from both the second and third trimesters, were found to have a lesion level that was within one segment of the predicted lesion level. The correct matching rate was 38/48 (79%), and agreement within one segment was achieved in all cases. Discussion: According to our data, 3D ultrasound is useful for the prenatal determination of lesion level in spina bifida, which is an important prognostic factor.

Prevalence and distribution of structural heart diseases in high and low risk pregnancies

OBJECTIVE To establish and compare the frequency of intrauterine congenital heart defects in high-risk and low-risk pregnancies for congenital heart diseases. METHODS Records of 3782 patients who underwent fetal echocardiography at the Pediatric Cardiology Unit were reviewed for reasons of referral and results of echocardiography retrospectively. The categorical variables between the groups were analyzed using a Chi-square test. RESULTS Structural heart defects were found in 213 (5.6%) fetuses in both high and low risk groups. Most common defects were ventricular septal defect (36.2%) and atrioventricular septal defect (14.1%). Frequency of congenital heart diseases was 7.8% (169 fetuses) in high-risk group: 4.1% were complex, 2.3% significant and 1.4% were minor. In low-risk group, the frequency was 2.7% (44 fetuses): 0.6% were complex, 0.8% significant and 1.3% were minor. In this group, rates of congenital defects were high regarding particular reasons: intrauterine fetal death in previous pregnancy (6.3%), abnormal first or second trimester screening tests (4.3%), and multiple gestations (3.4%). The sensitivity and specificity of fetal echocardiography according to transthoracic echocardiography were found to be 86% and 99%, respectively. CONCLUSION Congenital heart diseases rate, as expected, was found to be higher in high-risk group. However, regarding intrauterine fetal death in previous pregnancy, abnormal first or second trimester screening tests and multiple gestation, no statistically significant difference was observed between low-risk and high-risk groups. Therefore, we suggest the routine use of fetal echocardiography in cases we have mentioned above if the staff and equipment of the pediatric cardiology clinic are eligible.

Labial Fusion in a Pubertal Girl: A Case Report

An 18-year-old virgin, pubertal girl was treated for abnormal menses and dysmenorrhea. She had no history of trauma, sexual infection, or abuse. Occlusion of the introitus of the vagina had been first diagnosed 10 years earlier. The patient presented with fusion of the labia minora in the midline, posteriorly. Her physical examination, ultrasonographic laboratory examination, and intravenous pyelogram were all normal. Following surgical treatment, she had no problems at the time of postoperative follow-up.

Diagnosis and treatment of iron deficiency anemia during pregnancy and the postpartum period: Iron deficiency anemia working group consensus report

According to the World Health Organization (WHO), anemia is the most common disease, affecting >1.5 billion people worldwide. Furthermore, iron deficiency anemia (IDA) accounts for 50% of cases of anemia. IDA is common during pregnancy and the postpartum period, and can lead to serious maternal and fetal complications. The aim of this report was to present the experiences of a multidisciplinary expert group, and to establish reference guidelines for the optimal diagnosis and treatment of IDA during pregnancy and the postpartum period. Studies and guidelines on the diagnosis and treatment of IDA published in Turkish and international journals were reviewed. Conclusive recommendations were made by an expert panel aiming for a scientific consensus. Measurement of serum ferritin has the highest sensitivity and specificity for diagnosis of IDA unless there is a concurrent inflammatory condition. The lower threshold value for hemoglobin (Hb) in pregnant women is <11 g/dL during the 1st and 3rd trimesters, and <10.5 g/dL during the 2nd trimester. In postpartum period a Hb concentration <10 g/dL indicates clinically significant anemia. Oral iron therapy is given as the first-line treatment for IDA. Although current data are limited, intravenous (IV) iron therapy is an alternative therapeutic option in patients who do not respond to oral iron therapy, have adverse reactions, do not comply with oral iron treatment, have a very low Hb concentration, and require rapid iron repletion. IV iron preparations can be safely used for the treatment of IDA during pregnancy and the postpartum period, and are more beneficial than oral iron preparations in specific indications.

A new device to facilitate the chorion villus sampling

Abstract No abstract available

The Reliability of Maternal Serum Triple Test in Prenatal Diagnosis of Fetal Chromosomal Abnormalities of Pregnant Turkish Women

AIM The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women. METHOD Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy. A total of 1725 pregnancies with chromosomal abnormality risk according to triple test screening were accepted for fetal chromosome analysis and quantitative fluorescent-polymerase chain reaction. RESULTS Chromosomal aberrations were observed in 56 (3.2%) cases. About 44.6% of the abnormalities detected were numerical aberrations; however, 55.3% of the abnormalities were structural aberrations. Abnormalities detected were inversion of chromosome 9 in 20 cases, trisomy 21 in 14 cases, 46,XX/47,XX, +21 in 1 case, trisomy 18 in 2 cases, trisomy 13 in 1 case, 47,XXY, in 1 case, 45,X, in 1 case, structural abnormalities in 12 cases, and mosaic or tetraploidy in 6 cases. CONCLUSION Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.

Etiology of Serum CA-125 in Patients with Endometriosis Treated with a Gonadotrophin-Releasing Hormone Agonist (Buserelin)

Fifty-six patients with pelvic endometriosis were treated with a buserelin dosage of 200 micrograms/day s.c. for 6 months. Scoring of the American Fertility Society (AFS) for endometriosis was performed by laparoscopy in all cases before and at the end of therapy. Serum CA-125 and estradiol levels were determined before the treatment, and monthly during therapy and follow-up (6 months; respectively). A slight positive correlation was found between serum CA-125 concentrations before treatment and AFS scores for adhesions only. Before treatment, serum CA-125 values also correlated slightly with total AFS scores of patients with adhesions. At the end of the 6-month therapy, no correlation was found between CA-125 concentrations and second-look AFS scores for implants and/or adhesions. Serum CA-125 and estradiol values were closely parallel to each other during and after therapy with the gonadotrophin-releasing hormone agonist buserelin. In conclusion, (1) adhesions may play a role in the elevation of serum CA-125 levels in endometriosis, and (2) a significant decrease in serum CA-125 values during the buserelin therapy may result from a rather different mechanism, such as ovarian suppression, other than the therapeutic effect of this agent.

Prenatal diagnosis of pectus excavatum

Pectus excavatum (PE) is the depression of the lower part of manubrium sterni and xiphoid process. The main problem of PE depends on the cardiopulmonary morbidity caused by the narrowing of the thoracic space. To date, prenatal diagnosis of this deformity has been reported only once and was associated with Down syndrome. We present another case which we diagnosed as PE during a second-trimester fetal anatomic scan. The pectus severity index is used for these patients in postnatal life; however, prenatal adaption of this index is reported for the first time in our case.

First trimester fetal aortic Doppler for hemoglobinopathies

Objective: To evaluate fetal aortic Doppler for the prenatal diagnosis of hemoglobinopathies in the first trimester of pregnancy. Materials and Methods: Between January and November 2014, a total of 108 patients were enrolled in the study. The couples were carriers of either alpha/beta thalassemia, sickle cell disease or combined carriers of these and were admitted to Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology Prenatal Diagnosis Center. One hour before the chorionic villus sampling (CVS), patients were evaluated using fetal aortic Doppler. Pulsatility index, peak systolic velocity, and heart rate were noted. Results: There were no statistically significant differences in Doppler indices between different groups of CVS results when compared with the healthy controls. Conclusion: Fetal aortic Doppler investigation was found to be ineffective for the prenatal diagnosis of hemoglobinopathies.