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Öğe Analysis of Ear y and Late Cases of Idiopathic Abruptio Placenta in Preterm Patients(Galenos Yayincilik, 2019) Cilingir, Isil Uzun; Varol, Fusun; Sutcu, Havva; Inan, Cihan; Yener, Cem; Sayin, CenkObjective: To evaluate the cases of idiopathic abruptio placenta in early and late preterm period. Methods: Normotansive singleton pregnancies with the diagnosis of abruptio placenta between 23 and 37 weeks of pregnancy were included in the study. The patients with a risk factor for abruptio plaicenta (preeclampsia, travma, heavy smoking, polyhydoamnios etc) were excluded from the study. The patients were divided into two groups according to the gestational weeks at delivery. Group I was consisted of the pregnant patiens between 23 and 32 weeks of gestation and group II was consisted of pregnant patients between 32 and 37 weeks of gestation. Results: Mean maternal age of the pregnant patients was 28.3 years.The demographic characteristics were smilar in the groups. The most common complaint at the admission was bleeding in group I (13/17, 76.4%), whereas pain (5/11, 45.4%) in group II. There were statistically significant difference in breech and transvers position of the fetuses between the early cases and late cases of abruptio placenta (p<0.05). Conclusion: Abruptio placenta may occur even in the patients without any risk factors. It should be borne in mind that abruptio placenta may have may different clinical presentations. It has different clinical symptoms and prognosis in early and late preterm period.Öğe Can myometrial thickness/cervical length ratio predict preterm delivery in singleton pregnancies with threatened preterm labor? A prospective study(Springer Heidelberg, 2019) Erzincan, Selen Gursoy; Sayin, N. Cenk; Korkmaz, Selcuk; Sutcu, Havva; Inan, Cihan; Cilingir, Isil Uzun; Varol, Fusun G.ObjectiveTo investigate whether myometrial thickness (MT) to cervical length (CL) ratio could be used in the prediction of preterm birth (PTB) in singleton pregnancies presented with threatened preterm labor (TPL).MethodsAfter 48h of successful tocolysis, MT was measured transabdominally from the fundal, mid-anterior walls and the lower uterine segment (LUS) in 46 pregnancies presented with TPL. MT measurements were divided into CL, individually. The main outcome was PTB before 37weeks of gestation.ResultsThe patients were divided into two groups as women delivered37weeks (38.681.01weeks) (n=25) and those delivered<37weeks (34.28 +/- 2.53weeks) (n=21). The mean +/- SD CL in the preterm delivery group was significantly shorter than the term delivery group (23.77 +/- 9.23 vs 29.91 +/- 7.03mm, p<0.05). Fundal, mid-anterior or LUS MT values were similar in both groups. However, in those who delivered preterm, the ratios of fundal MT-to-CL (p=0.026) and mid-anterior MT-to-CL (p=0.0085) were significantly different compared to those delivered at term. The optimal cutoff values for CL, fundal MT-to-CL and mid-anterior MT-to-CL ratios in predicting PTB were calculated as 31.1mm, 0.19 and 0.20, respectively. Fundal MT-to-CL ratio predicted preterm delivery with 71% sensitivity, 72% specificity, 68% positive and 75% negative predictive values. For mid-anterior MT-to-CL ratio, respective values were 76, 76, 73 and 79%.Conclusion p id=Par4 Measurement of MT along with CL may offer a promising method in the management of women presented with TPL.Öğe Clinical Significance of Abnormal Results of Second Trimester Hormones in the Absence of Aneuploidy(Kowsar Publ, 2018) Uzun, Isil; Sayin, N. Cenk; Inan, Cihan; Erzincan, Selen; Sutcu, Havva; Varol, FusunBackground: Abnormal levels of hormones during the second trimester of pregnancy may predict genetic disorders and complications of pregnancy. Objectives: This study was performed to evaluate the clinical significance of abnormal results in second-trimester markers in the absence of aneuploidy. Methods: This case-control study was conducted between May 2014 and December 2015 in the maternal-fetal unit, Trakya University Faculty of Medicine in Turkey. Overall, 108 Turkish pregnant females were included in this study. This research recruited patients (n = 46) with normal karyotype, who underwent invasive prenatal tests because of abnormal levels of second-trimester hormones, along with a cohort of controls (n = 31) with hormonal results within normal ranges. For each patient, the researchers recorded the mode of delivery, gestational age at delivery, birth weight, complications, and adverse outcome of the pregnancy. Data were analyzed using Fisher's exact tests and Yates continuity correction tests for qualitative variables, and t- test and Mann-Whitney U test for quantitative variables. Results: Maternal age (mean +/- SD) of the entire group was 31.77 +/- 5.68 years (study group: 31.23 +/- 4.39; controls: 32.13 +/- 6.43, P > 0.05). Preterm delivery and preeclampsia were significantly higher in the study group (P = 0.02). In the study group, Alpha Fetoprotein (AFP) levels were significantly higher in patients with preeclampsia yet not in the controls. The AFP values under 0.77 multiple of the median in patients with elevated test results in the absence of aneuploidy appeared to be associated with the development of preeclampsia later in pregnancy. Conclusions: Although the significance of higher AFP values have been discussed in the literature in terms of the development of adverse outcomes, the present study suggests that lower values must also be taken into account during patient follow-up.Öğe Comparison of postpartum sonographic findings after uneventful vaginal and cesarean section deliveries(Medical Communications, 2018) Cilingir, Isil Uzun; Sayin, Cenk; Sutcu, Havva; Alici, Ebru; Inan, Cihan; Erzincan, Selen; Yener, CemObjective: To prospectively determine the sonographic findings of the postpartum uterus 24 hours after vaginal delivery and cesarean section. Methods: Women who had uneventful vaginal delivery or cesarean section from July 2015 to May 2018 in a tertiary care hospital were prospectively included. Uterine lengths, endometrium, amout of free fluid, the distance between the uterine fundus-promontorium and uterine fundus-L5 were evaluated 24 hours after delivery. Results: The mean (min-max) endometrial thickness in the vaginal delivery and cesarean section groups were 13.3 (4-25) and 12.4 (4-29) mm, respectively. Fundus-cervix length was significantly higher in the vaginal delivery group compared to the cesarean section group (184.05 +/- 16.8 vs 163.6 +/- 6.7 mm, p < 0.001). The measurements of anterior and anterior-posterior walls of the uterus, anteroposterior uterine length and uterine width were similar in both groups. Promontorium-fundus length was significantly higher in patients who delivered vaginally than those by cesarean section (123.3 +/- 13.6 vs 108.7 +/- 23.3 mm, p = 0.005). Conclusion: The measurement of L5-fundus distance is a simple and effective technique to evaluate the size of the uterus. Homogenous endometrium up to 30 mm in asymptomatic patients may be a normal finding 24 hours after delivery. The results of this study may be helpful in the decision-making process in cases of early postpartum hemorrhage or hemodynamic instability.Öğe Diagnostic utility of saline infusion doppler sonohysterography in endometrial mass lesions(Professional Medical Publications, 2016) Ogutcuoglu, Bilge; Karadag, Cihan; Inan, Cihan; Dolgun, Zehra Nihal; Yoldemir, Ahmet Tevfik; Aslanova, LaleObjective: To evaluate the importance of saline infusion Doppler sonohysterography (SIS-D) in the assessment of transvaginal ultrasound (TVUSG)-suspected intrauterine mass lesions in women complaining about abnormal uterine bleeding with respect to hysteroscopy (H/S) and pathologic diagnosis. Methods: This study was conducted on patients, who visited to our clinic with abnormal uterine bleeding and whose TVUSGs indicated intrauterine masses. The study covered a total of 100 patients. SIS-D and hysteroscopy were performed on those 100 patients. SIS-D results were compared with hysteroscopy results. The relation between SIS-D findings and pathology results were evaluated. Results: For SIS; specificity was 96%, sensitivity was 60%, positive predictive value (PPV) was 87.8%, negative predictive value (NPV) was 83.3%, and the accuracy rate was 87%. For TVUSG; PPV was 75%. According to SIS-D, 92.2% of the lesions that had single-vessel feeding patterns were endometrial polyps, and this was statistically significant (p<0.0001). 57.1% of the lesions that had multiple-vessel feeding patterns were submucous myomas, and this was statistically significant (p<0.0001). Conclusion: SIS should be performed in patients before hysteroscopy because it will protect a considerable number of patients from unnecessary invasive procedures. SIS-D gives an idea on the histopathology of the mass.Öğe Does emergency cerclage really works in patients with advanced cervical dilatation?(Elsevier Masson, Corp Off, 2019) Cilingir, Isil Uzun; Sayin, Cenk; Sutcu, Havva; Inan, Cihan; Erzincan, Selen; Yener, Cem; Varol, FusunObjective: To asses the efectivity of emergency cerclage in the patients with advance cervical dilatation and prolapsed membranes. Material methods: The patients who have >= 4 cm cervical dilatation with protruding membranes were included in the study. The patients were divided into two groups. Group I was consisted of the patients who had emergency cerclage procedure and group II was consisted of the patients who denied the operation and expectantly managed. The physical examination, pregnancy outcomes and the complications were compared between the groups. The results of the patients with emergency cerclage were analysed. Results: 21 patients were referred with a >= 4 cm cervical dilatation with protruding membranes 33.3% of women with emergency cerclage were delivered within one week from the admission. One patient, who was a grand multiparous (G6P4A1), was delivered a healthy infant at 40 weeks of gestation. The remaining five patients were delivered between 21 and 24 weeks, but all the infants were died due to extreme prematurity. Two patients (22.2%) developed chorioamnionitis that necessitated long hospitalization (14-21 days). In group II (expectant management) 83,3% of the patients were delivered within the 48 h from the admission. There were no case of chorioamnionitis in group II. Conclusion: Emergency cervical cerclage is not a rationale option for the patients with an advanced cervical dilation (>4 cm) together with protruding membranes in early second trimester because of the short prolongation time and high complication rate. (C) 2019 Elsevier Masson SAS. All rights reserved.Öğe Effects of betamethasone on fetoplacental and maternal hemodynamics in preterm pregnancies(Wiley, 2018) Inan, Cihan; Sayin, N. Cenk; Dolgun, Zehra N.; Erzincan, Selen G.; Uzun, Isil; Sutcu, Havva; Sut, NecdetObjective: To evaluate the possible effects of prenatal steroid administration onDoppler parameters of the umbilical artery, uterine artery, middle cerebral artery, and ductus venosus, the cerebroplacental ratio, and the amniotic fluid index in pretermfetuses. Methods: The present prospective observational study was performed at the Perinatology Department of Trakya University, Edirne, Turkey, between June 1, 2015, and September 1, 2016. It included patients with healthy singleton pregnancies who had received betamethasone at 24-34 weeks of pregnancy. Doppler parameters were measured before (0 hours) and 24, 48, and 72 hours after the administration of betamethasone (two intramuscular doses of 12 mg each, administered 24 hours apart). Results: There were 68 patients included. Pairwise comparisons demonstrated that, at 72 hours after betamethasone administration, the umbilical artery resistance index (P=0.038), the middle cerebral artery systolic/diastolic velocity ratio (P=0.007), and the amniotic fluid index (P=0.017) were reduced, whereas the end-diastolic velocity of the middle cerebral artery was increased (P=0.012), compared with baseline values. Conclusion: Betamethasone had favorable effects on fetal cerebral circulation, with increased end-diastolic velocity in the middle cerebral artery; this could represent a positive effect on cerebral blood circulation and decreased flow resistance in the umbilical artery.Öğe Emergency cerclage in twins during mid gestation may have favorable outcomes: Results of a retrospective cohort(Elsevier Masson, 2018) Cilingir, Isil Uzun; Sayin, Cenk; Sutcu, Havva; Inan, Cihan; Erzincan, Selen; Yener, Cem; Varol, FusunPurpose. - Cervical cerclage treatment for cervical changes at mid trimester is a very controversial topic in twins. The aim of the study was to present our maternal and fetal outcomes of mid-trimester cervical cerclage in twin pregnancies. Basic procedures. - This study was performed using data extracted from the medical files of the twin pregnancies whom performed emergency cervical cerclage between January 2012 and March 2018 at Trakya University, Facuty of Medicine, Department of Perinatology. Main findings. - Mean (min.-max.) gestational age at delivery was [27.3 (21-34) weeks]. The median time between cervical cerclage and delivery was 6.4 weeks, while the maximum prolongation of the pregnancy was 11 weeks. The median prolongation period of pregnancy was 4.1 weeks in patients with bulging membranes, but 10 weeks in patients with cervical effacement and cervical shortening. Eight infants died at the neonatal period. Two patients (20%) developed late abortions at 21 and 22 weeks of gestation, and 2 women (20%) delivered extremely premature neonates at the 24th weeks. Overall neonatal mortality rate was 40% (8/20 neonates). Twelve out of twenty were born alive (60%). Principal conclusions. - Despite the lack of randomized controlled trials, it seems reasonable to offer emergency cervical cerclage to twin pregnancies with cervical shortening (<15 mm). For the twin pregnancies with advanced cervical dilatation and protruding membranes, emergency cervical cerclage should be an option only for carefully selected patients after informing about the complications and low success rate. (C) 2018 Elsevier Masson SAS. All rights reserved.Öğe Evaluation of Detailed Fetal Renal Sonographic Findings and the Early Neonatal Outcomes of the Patients with Fetal Pelviectasis Whom Referred After 24th Weeks of Pregnancy(Galenos Publ House, 2022) Cilingir, Isil Uzun; Sayin, Cenk; Suetcue, Havva; Inan, Cihan; Erzincan, Selen Guersoy; Varol, FuesunObjective: Analysis of detailed renal sonographic findings in the patients whom referred to our tertiary center with the diagnosis of renal pelvic dilatation (RPD) after 24 weeks of gestation.Method: The study group consisted of the patients who have referred by their doctors to our perinatology center with a diagnosis of pelviectasy. Maternal age, gestational week, right and left renal pelvis diameter, bladder diameter, amniotic fluid index, other sonographic findings and antenatal diagnosis were analysed.Results: Bilateral hydronephrosis were detected in 19 (44.1 8%) patients. Unilateral left hydronephrosis were found in 10 (23.2 5%) patients while right hydronephrosis were found in 6 (13.9 5%) patients. Mearn left renal pelvis diameter was 11.20 (4-32) mm and mean right renal pelvis diameter was 7.89 (4-18) mm. Antenatal diagnosis was vesicoureteral reflux in 16 (37.2 0%) patients, ureteropelvic junction obstruction in 9 (20.9 3%) patients, posterior urethral valves in 5 (11.6 2%) patients. The antetanal diagnosis was renal agenesia in one patient, renal cortikal cyst in one patient, policyctic renal disease in one patients and multiple dysplastic renal disease in 3 patients.Conclusion: When RPD is detected in the fetal ultrasound of during pregnancy, directing the patients to the perinatal centers for advanced evaluation is important, since it can prevent the progressive renal damage that may develop in the later years of life.Öğe Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities(Wiley, 2020) Erzincan, Selen Gursoy; Sayin, N. Cenk; Inan, Cihan; Uzun, Isil; Ugurlar, Ozge Yapici; Varol, Fusun G.Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case of first trimester megacystis with associated umbilical cord abnormalities in a female fetus having cloacal dysgenesis sequence. This rare association reflecting high urinary pressure should first suggest urethral atresia. Our case highlights the importance of routine inspection of umbilical cord in the workup of early megacystis in terms of both etiology and fetal diagnosis.Öğe Hemorrhagic cyst of the canal of Nuck after vaginal delivery presenting as a painful inguinal mass in the early postpartum period(Elsevier Science Bv, 2017) Uzun, Isil; Inan, Cihan; Varol, Fusun; Erzincan, Selen; Sutcu, Havva; Sayin, Cenk[Abstract Not Available]Öğe Inevitable Myomectomy of a Huge Submucous Myoma During Cesarean Section A Case Report(Sci Printers & Publ Inc, 2018) Uzun, Isil; Sayin, Cenk; Inan, Cihan; Erzincan, Selen; Varol, FusunBACKGROUND: Submucous myoma during pregnancy is a very rare clinical entity. CASE: A 39-year-old woman was able to carry her pregnancy to term despite a huge submucous myoma and inevitable myomectomy during cesarean section. CONCLUSION: Cesarean section is indicated in patients with myomas obstructing the birth canal, and myomectomy during cesarean section is not only a reasonable option, but sometimes inevitable.Öğe A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries(Wiley, 2018) Inan, Cihan; Sayin, Niyazi Cenk; Gurkan, Hakan; Erzincan, Selen Gursoy; Uzun, Isil; Sutcu, Havva; Atli, Emine Ikbal; Varol, FusunPosterior encephalocele is a neural tube defect, which is a sac-like protrusion of the neural tissue and cerebrospinal fluid through a defect in the occipital bone. This embryonic anomaly may coexist with cortical dysplasia, agenesis of the corpus callosum, hydrocephalus, microcephaly, craniofacial abnormalities, ventricular and atrial septal defect. We report a case of a large posterior encephalocele in a fetus accompanied by unexpected major abnormalities including transposition of the great arteries, severe ventriculomegaly and cerebellar atrophy. Postnatal surgical corrections of the posterior encephalocele and then of the transposition of the great arteries were performed but the neonate died 2 months after delivery.Öğe Letter to the editor related to the article Surgical outcomes of cesarean scar pregnancy: an 8-year experience at a single institution published by Xu et al.(Springer Heidelberg, 2022) Yener, Cem; Sayin, Cenk; Inan, Cihan; Altan, Esra; Ates, Sinan; Varol, Fusun[Abstract Not Available]Öğe Maternal and fetal outcomes in pregnancies with pulmonary hypertension: Experience of a tertiary center(Elsevier Taiwan, 2018) Dolgun, Zehra Nihal; Inan, Cihan; Sayin, N. CenkObjective: Pregnancies complicated with PHT are serious debates for obstetricians due to high maternal and fetal complication potentials. The aim of the study was to present our maternofetal outcomes in pregnant women with pulmonary hypertension. Materials and methods: This study was performed using data extracted from the medical files of 23 pregnancies of 18 patients with PHT who were followed-up in the obstetrics and gynecology department. Results: The average age was 27.09 +/- 6.97 (range: 14-38) years. The most frequent maternal cardiac pathologies were cardiac valvular disease (mitral or aortic insufficiency) (n = 4), atrial septal defect (n = 3), mitral stenosis (n = 3), ventricular septal defect (n = 2) and arrhythmia (n = 2). Caesarean section and normal vaginal delivery were performed in 13 and 7 deliveries, respectively. Therapeutic dilatation and curettage was performed in 3 patients. Preterm delivery occurred in 4 pregnancies and there were 2 intrauterine growth retardations, 1 preeclampsia and 2 maternal pulmonary edemas. One patient underwent re-laparotomy 5 days after delivery due to uterine hematoma. Totally, 20 newborns (14 female, 6 male) were delivered. Most of the complications were seen in advanced PHT classes. Conclusion: The care of the pregnant women with PHT necessitates a well-planned, multidisciplinary approach focusing on close monitoring before, during and after delivery. This approach may contribute to reduction of poor maternal and fetal outcomes. (C) 2018 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.Öğe Molecular nanoarchitectonics of proton triggered tetraphenylethylene-based detector: colorimetric, reversible, and intracellular pH(Wiley, 2023) Cilingir, Isil Uzun; Sayin, Cenk; Sutcu, Havva; Inan, Cihan; Erzincan, Selen; Varol, FusunObjectiveTo evaluate the changes in the diameters of superior vena cava (SVC) and inferior vena cava (IVC) and to measure the ratio between SVC and IVC in growth-restricted fetuses and compare these results with normally grown fetuses.MethodsTwenty-three consecutive patients with fetal growth restriction (FGR) (Group I) and 23 pregnant gestational age-matched controls (Group II) between 24 and 37 weeks of gestation were enrolled in the study between January 2018 and October 2018. The diameter of the SVC and IVC from inner wall to inner wall was measured in all patients by sonographic examination. The ratio between the diameter of the SVC and IVC was also measured in each patient to eliminate the gestational age factor. We have named this ratio the vena cava ratio (VCR). All parameters were compared between the two groups.ResultsThe diameter of the SVC was significantly greater in the fetuses with FGR (2.6-7.7 [5.4]) than in controls (3.2-5.6 [4.1]; P = .002; P < .01). The diameter of the IVC was significantly less in the fetuses with FGR (1.6-4.5 [3.2]) than in controls (2.7-5 [3.7]; P = .035; P < .05). The VCR was between 1.1 and 2.3 and the median value was 1.8 in Group I. The VCR was between 0.8 and 1.7 and the median value was 1.2. VCR was significantly higher in fetuses with FGR (P = .001 P < .01).ConclusionThis study shows that VCR is higher in fetuses with growth restriction. Further studies are needed to clarify the association between VCR and antenatal prognosis and postnatal results.Öğe Placental and serum levels of human Klotho in severe preeclampsia: A potential sensitive biomarker(W B Saunders Co Ltd, 2019) Cilingir, Isil Uzun; Varol, Fusun; Gurkan, Hakan; Sutcu, Havva; Atli, Engin; Eker, Damla; Inan, CihanIntroduction: The Klotho (KL) gene, initially defined as an anti-aging gene in mice, shares 86% of the amino acid sequence withthe human KL protein. The KL gene plays roles in endothelial nitric oxide production, angiogenesis, antioxidant enzyme production and protecting against endothelial dysfunction, all of which may be associated with preeclampsia (PE). Human KL is the precursor of the gene products: alpha-KL and beta-KL. In this study, we evaluated the gene expression, serum and placental levels of human KL in women with severe PE, pregnant women with chronic hypertension and healthy pregnant controls. Also, the gene expression, serum and placental levels of human decorin (DCN) were evaluated. Methods: A total of 36 patients with severe PE, 10 with chronic hypertension, and 28 with healthy controls were enrolled. Placental and serum levels together with of KL and DCN were measured by ELISA and alsogene expression of these were evaluated. Results: Placental and serum KL levels were significantly higher in the PE than in the controls and in women with chronic hypertension. Serum DCN levels were significantly higher in the PE women compared to controls and pregnant women with chronic hypertension. Placental DCN was similar in PE and healthy controls. There was no significant difference in the gene expression of KL and DCN in the groups. The best cut-off level for human KL to identify the presence of PE was calculated as 12.48 pg/ml with a sensitivity of 100% and and specificity of 96%, whereas for DCN 62.33 ng/ml to assess the presence of PE with a sensitivity of 86.1% and a specificity of 88%. Conclusion: Human KL may be a valuable marker for PE, with high sensitivity and specificity. It also appears to be more sensitive and specific than human DCN.Öğe Placental chorioangioma complicated with preterm delivery: A case report(Modestum Ltd, 2017) Inan, Cihan; Sayin, N. Cenk; Tastekin, Ebru; Erzincan, Selen Gursoy; Uzun, Isil; Sarikas, Nurtac; Varol, Fusun G.Chorioangioma is the most common tumor of the placenta. Since these tumors generally have small sizes, they cannot be detected during the routine ultrasonography (USG) examination and might not present any symptom. When they become larger in size, they can cause various maternal and fetal complications. We presented a patient whose obstetric USG examination revealed a placental mass compatible with chorioangioma and who had preterm delivery at the 34th gestational week. The size of the mass increased rapidly in last four weeks. The pathological examination indicated that the placental mass was 9x8 cm in size and compatible with angiomatous type chorioangioma.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 Prenatal diagnosis of 20p13 microdeletion syndrome(Elsevier Taiwan, 2021) Yener, Cem; Say, Cenk; Inan, Cihan; Gurkan, Hakan; Atli, Emine Ikbal; Atli, Engin; Altan, EsraObjective: The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature. Case report: The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation. Conclusion: This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development. (c) 2021 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/).
