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Öğe Intrahepatic Cholestasis and Adverse Perinatal Outcomes in the Third Trimester: A 10-year Case-control Study(2022) Yener, Cem; Sayın, Cenk; Erbilen, Esra Altan; Ateş, Sinan; Varol, FüsunBackground: To evaluate the perinatal outcomes in women whom developed intrahepatic cholestasis of pregnancy (ICP). Materials and Methods: Medical records of 76 patients who were followed up in a tertiary center due to ICP between January 2010 and December 2019 were evaluated retrospectively. Women with ICP (n=76) and age matched controls (n=228) were included to our study. Bile acid (BA) values could be reached in 42 of 76 patients. Results: There was no significant difference in terms of family history, fetal gender, or the presence of meconium in the amniotic fluid between the groups (p>0.05) except cesarean rates were significantly higher in ICP group (p<0.001). The median gestational weeks at delivery, fetal weight and Apgar scores at the 1st- and at the 5th-minutes in the ICP group were significantly lower than those in the controls (p<0.05). Gestational weeks at delivery was similar in women with BA values above or under 40 ?mol/L (p>0.05). Conclusion: ICP has important fetal implications. There is an increased risk for poor fetal outcomes, including preterm delivery and fetal demise. Therefore, close follow-up and meticulous observation is indispensable. Keywords: Intrahepatic cholestasis, neonatal outcome, pregnancy, ursodesoxycholic acidÖğe Measurement of Fetal Penile Length in Thrace Region of Turkey(2021) Yener, Cem; Varol, Füsun; Erbilen, Esra Altan; Ateş, Sinan; Sayın, CenkAim: To provide a reference range for fetal penile length obtained by prenatal sonography between 19th and 23rd weeks of pregnancy. Material and Method: The medical records of pregnant women who were followed-up in our department of Perinatology during the time period of 1st of January 2019 to 31st of December 2019 were reviewed retrospectively. Total 103 patients between 19th and 23rd weeks of gestation were included in the study. Results: Fetal penile length increased as the gestation proceeded. Mean ± SD penile length (cm) between 19th and 23rd weeks of gestation was found to be 0.81±0.23. Conclusion: Ultrasound measurements of fetal penile length can be performed within the second-trimester anomaly scan, and these measurements appear to be necessary because identification of true penile maldevelopment obligates further diagnostic workup.Öğe Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies(Elsevier Taiwan, 2022) Atli, Emine Ikbal; Atli, Engin; Inan, Cihan; Varol, Gulizar Fusun; Mail, Cisem; Erbilen, Esra Altan; Yalcintepe, SinemObjective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q invdup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat. Conclusion: To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring. (c) 2022 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).Öğe Successful pregnancy and delivery management in a patient with Bernard Soulier Syndrome(Sage Publications Ltd, 2023) Demirci, Ufuk; Erbilen, Esra Altan; Umit, Elif Gulsum; Inan, Cihan; Sayin, N. Cenk; Demir, Ahmet MuzafferBernard Soulier Syndrome (BSS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of ristocetin-induced platelet aggregation. Clinical findings vary from person to person. Most of the patients are diagnosed with muco-cutaneous bleeding such as purpura, epistaxis and gingival bleeding in early childhood. Few pregnant women with BSS are described in the literature. Management of thrombocytopenia during pregnancy and delivery requires a multidisciplinary approach. The family should be warned about the potentially life-threatening bleeding during pregnancy and the delivery and the decision about mode of delivery should be individualised, involving discussion with patient and multidisciplinary team.