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Öğe Cell-free DNA testing: is it reliable? A case report(7847050 Canada Inc, 2018) Erzincan, S. G.; Saying, N. C.; Inan, C.; Yuce, M. A.; Varol, F. G.; Basaran, S.In this article, the authors reported the findings of a false negative case of cell-free DNA (cfDNA) testing for trisomy 21. The cfDNA test was performed due to the increased nuchal translucency during the first trimester scan. After receiving the normal result of the test, the patient was followed up. However, intrauterine growth retardation and ventriculomegaly were detected in the second trimester of pregnancy and fetal karyotyping revealed trisomy 21.Öğe Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis(Elsevier Taiwan, 2018) Cilingir, I. Uzun; Sayin, Niyazi Cenk; Gurkan, H.; Ciftdemir, N. A.; Atli, E.; Inan, C.; Erzincan, S.; Sutcu, H.; Vatansever, U.; Varol, FusunMacro Domain Containing 2 (MACRO D2) gene is a gene from macro family which is highly expressed in the ventriculer zone of the brain during embryonic development. Association between Autism spectrum disorders and MACRO D2 gene polymorphisms has been reported before [1] . Deletion in MACRO D2 gene has also been associated with Kabuki Syndrome which is a well described congential anomaly syndrome [2] .Öğe Eprenatal diagnosis of a new case: de novo balanced non-obertsonian translocation involving(Macedonian Acad Sciences Arts, 2018) Atli, E., I. (Trakya author); Gurkan, H.; Tozkir, H.; Varol, G. F.; Inan, C.The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46, XY, t(15;22)(p11.2;q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.Öğe EPRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-OBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)(Macedonian Acad Sciences Arts, 2018) Atli, E., I; Gurkan, H.; Atli, E.; Tozkir, H.; Varol, G. F.; Inan, C.The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46, XY, t(15;22)(p11.2;q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.Öğe Is there A Relationship between Route of Delivery, Perinatal Characteristics, and Neonatal Outcome in Preterm Birth?(Wolters Kluwer Medknow Publications, 2018) Dolgun, Z. N.; Inan, C.; Altintas, A. S.; Okten, S. B.; Karadag, C.; Sayin, N. C.Background: Preterm birth is one of the most challenging problems in obstetric care and it is closely related to perinatal mortality and morbidity. The aim of the current study was to document our experience with preterm births and to analyze the association between perinatal variables and clinical outcomes. Methodology: In this retrospective study, data were derived from the medical records of 785 singleton preterm births delivered in the obstetrics and gynecology department of our institution. Variables under investigation were maternal and gestational ages, fetal gender, route of delivery (vaginal vs. cesarean section [C/S]), causes of preterm birth, birth weight, placental weight, umbilical cord length, and Apgar scores at the 1st and 5th min. Results: Pregnant women with advanced age (>= 35 years) were more likely to undergo C/S (P < 0.001). Apgar score at the 1st and 5th min was influenced significantly by gestational age (P < 0.001), newborn birth weight (P < 0.001), placental weight (P < 0.001), and umbilical cord length (P < 0.001). Infants delivered due to antepartum fetal distress indication had remarkably lower Apgar scores at the 1st min and the birth weight seemed to be positively correlated with Apgar scores at both 1st (P < 0.001) and 5th min (P < 0.001). Apgar scores both at the 1st and 5th min were positively correlated with placental weight (R: 0.239 and 0.231, respectively, and P < 0.001 for both) and length of umbilical cord (R: 0.228 and 0.211, respectively, and P < 0.001 for both). Conclusion: Advanced age pregnancies have higher C/S rates, but Apgar scores are significantly correlated with infant characteristics. Umbilical cord length and placental weight might be the new add-on predictors of postpartum well-being in premature infants.Öğe Obstetric outcomes of recurrent pregnancy loss patients diagnosed with inherited thrombophilia(Springer London Ltd, 2017) Karadag, C.; Yoldemir, T.; Karadag, S. D.; Inan, C.; Dolgun, Z. N.; Aslanova, L.Background Recurrent pregnancy loss (RPL) is defined by two or more failed pregnancies. The relation between RPL and inherited thrombophilia requires anticoagulant therapy during pregnancy. However the obstetric outcomes have not been well defined in these RPL patients diagnosed with inherited thrombophilia, who have been given anticoagulant therapy. Aim To investigate the obstetric outcomes in pregnant women with RPL who are given low molecular weight heparin (LMWH) and low-dose aspirin due to diagnosis of inherited thrombophilia. Methods A hundred and eight RPL women were diagnosed with inherited thrombophilia, and 98 women were diagnosed with unexplained RPL. The patients with inherited thrombophilia were given LMWH and low-dose aspirin. Unexplained RPL patients were not given any medicine. The obstetric outcomes of participants were noted. Results In thrombophilic group, the live-birth levels were significantly higher [90 (83%) vs 67 (68%) p < 0.05], and the miscarriage levels were significantly lower than that in the control group [14 (13%) vs 27 (28%) p < 0.01]. The number of patients with preeclampsia was significantly higher in the thrombophilic group [16 (15%) vs 6 (6%) p < 0.05]. The number of preterm births was significantly higher than that of the controls [25 (23%) vs 10 (10%) p < 0.05]. The median gestation age of delivery was 35 weeks for thrombophilic patients and 38 weeks for controls (p < 0.05). Conclusion The RPL patients diagnosed with inherited thrombophilia and who were given LMWH with low-dose aspirin had higher live-birth rates and lower miscarriage rates than those in the unexplained RPL patients. Increased risk of preeclampsia is seen in RPL patients with inherited thrombophilia despite thrombophilia prophylaxis.
