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This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %. Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias. [ABSTRACT FROM AUTHOR]

Background/aim: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. Materials and methods: The records of 8363 amniocenteses, 626 chorionic villus, and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events. Results: The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21–25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36–40, 5 times higher in 41–45 and 10-fold in 46–50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant. Conclusion: These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi is the property of Harran University Medical Faculty and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Amniocentesis is one of the safest procedures of prenatal diagnosis. This study aimed to show amniocentesis indications, rate of successful amniocyte culture, complications and outcomes of these pregnancies undergoing prenatal diagnosis in eastern part of Turkey, especially Van province and its nearby. Between 2018 and 2020, 253 patients were referred to our center for amniocentesis and 120 patients giving consent were enrolled from Van and its surrounding provinces. The most frequent indication was high risk in prenatal screening tests whereas the highest chromosomal abnormality was found in fetuses with abnormal ultrasonographic findings. Overall, 11.6% of fetuses had chromosomal anomaly. The most abundant chromosomal abnormality was Trisomy 21, followed by trisomy 18 and 13. Except one case with amniotic leakage no complications were found. Eleven pregnancies were terminated whereas one fetus was born with Turner syndrome and two pregnancies resulted with stillbirth. In conclusion, fetuses with abnormal ultrasound screening had higher chromosome anomaly diagnosed by amniocentesis and compatible with the literature, amniocentesis is a safe and successful method of prenatal diagnosis of chromosomal abnormalities. Van and its surrounding provinces showed a high rate of chromosomal anomaly when prenatal diagnosis was done. [ABSTRACT FROM AUTHOR]

Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and β-thalassemia (β-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but β-thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and β-thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and β-thal. A total of 15 different β-thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with β-thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were β-thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [β6(A3)Glu→Val, GAG > GTG], and 18 of the fetuses were double heterozygotes for β-thal mutations. [ABSTRACT FROM AUTHOR]

Aims: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. Methods: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow‐up were analyzed retrospectively. Results: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene‐negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first‐year survival rate of the cases was 88.8%. Conclusions: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family. [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate the effectiveness and usability of the uterocervical angle, which we examined ultrasonographically before misoprostol treatment, which we used in first-trimester pregnancy terminations, and its relationship with the abortion time. Material and Method: This prospective study includes 207 pregnant women diagnosed with an ex-fetus in utero hospitalized for medical termination in a single center. These patients were divided into two groups patients whose treatment was completed in the first cycle and who needed additional cycles. The characteristics of all pregnant women, abortion times, and misoprostol doses used were compared with uterocervical angle and cervical length and analyzed between groups. Results: The mean age of the patients in the entire study group was 30.1±6.3, the median uterocervical angle was 112 degrees, and the cervical length was 36 mm. Increasing cesarean number and increasing uterocervical angle degree were positively correlated with increasing abortion time. The number of cesarean sections and the degree of uterocervical angle differ significantly between the group whose treatment was completed in the first cycle and the groups that needed additional cycles. In the treatment groups with elevated uterocervical angle degrees, the first cycle was higher than the successful group. Additional dose and cycle requirements arise if the uterocervical angle is >110 degrees. Conclusion: Evaluation of the uterocervical angle in first-trimester medical terminations may guide the clinician in the early completion of treatment. With this evaluation before medical treatment, the duration of hospitalization can be shortened, and the need for surgical intervention for patients can be reduced. [ABSTRACT FROM AUTHOR]

Background/Aim: There is insufficient information about how long fetal well-being will last after a negative oxytocin challenge test (OCT) and the factors affecting this process. We aim to evaluate maternal and perinatal outcomes in high-risk patients who had negative OCTs and to investigate the effects of methods of induction on the development of fetal distress. Methods: The study was designed as a retrospective cohort study. Data of patients who were hospitalized in the perinatal intensive care unit due to high-risk pregnancies between January 2016 and December 2016 were reviewed retrospectively. The patient's gestational age, gravidity, parity, and body mass index (BMI), risk factors leading to the OCT, labor induction methods used following a negative OCT, time from negative OCT to delivery, mode of delivery, and indications for cesarean section were recorded. In addition, data regarding fetal sex, birth weight, birth height, labor complications, Apgar scores at minutes 1 and 5, admission to the neonatal intensive care unit (NICU), indications for NICU admission, length of NICU stay, and stillbirth were also recorded. Results: OCT was performed on 551 patients and was negative in 447 patients. Among patients with a negative OCT, labor induction was preferred in 427 (95.5%) patients. When fetal distress development was assessed according to the induction method used following a negative OCT, fetal distress developed in 9.1% of 427 patients who underwent labor induction. Conclusion: When outcomes were considered in pregnant women with a negative OCT, it was observed that there were no fetal deaths and a limited number of newborns with low Apgar scores. Further randomized studies are needed to draw definitive conclusions. [ABSTRACT FROM AUTHOR]

Objective: To assess the indications for termination of pregnancy (TOP) in pregnant patients who were followed up with suspicion of fetal anomaly in a Turkish tertiary referral center. Material and Methods: This retrospective study was carried out in patients who were followed up with suspicion of fetal anomaly between May 2016 and May 2019 at the Perinatology Clinic of Obstetrics and Gynecology Department in Pamukkale University Hospital, which is a tertiary hospital in Denizli province in Turkey. Women were divided into two depending on gestational period: group 1 ≤22 weeks; and group 2 (>23 weeks of gestation). Results: Four hundred and seventeen pregnant women were evaluated and TOP was performed at a mean gestational age of 27.7±6.3 weeks. There were 308 (73.8%) women in group 1 and 109 (26.2%) in group 2. The decision to terminate pregnancy was due to fetal anomaly in 117 (28.1%). The majority of termination pregnancies in group 2 were performed because of multiple malformations and/or central nervous system defects. All chromosomal diseases were detected in group 1. Conclusion: With a good perinatal screening program, fetal anomalies can be diagnosed early. Therefore, early TOP is possible. Thus, pregnancy termination can be made before reaching the life limit. [ABSTRACT FROM AUTHOR]

Background: The fact that nurses involved in prenatal care have an adequate level of knowledge about these issues will lead to more effective and positive health outcomes in societies where they serve. There is limited research in Turkey on the knowledge levels and attitudes of nurses and student nurses involved in prenatal care. Purpose: This study was conducted to determine the knowledge level of nursing students about prenatal tests and foetal rights. Methods: The sample of this descriptive study consisted of 252 3rd and 4th-grade students studying at a public university. Frequency, arithmetic mean, standard deviation, minimum and maximum values, and Mann-Whitney U and Kruskal-Wallis tests were employed in the analysis of the data. Results: 47.6% of the students reported that they would reach the delivery decision of a baby with a high risk of an anomaly. A significant difference was found between the test scores of the groups in terms of student gender (p <0.05). The socio-demographic variables of the students were found to not affect their decisions on the delivery of a baby with a high risk of anomalies and their prenatal test knowledge scores (p> 0.05). Conclusions/Implications for Practice: Foetal rights, is recommended to be included in the nursing curriculum to raise the knowledge and awareness levels. Efforts aimed at contributing to facilitative student-patient relationships have a crucial role in shaping students' competency and in promoting high-quality patient care. Thus, in order to improve students' perceptions of prenatal tests and fetal rights, it is thought that students' awareness should be increased on these topics. [ABSTRACT FROM AUTHOR]

Purpose: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. Materials and methods: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations. GIT obstructions were divided into five groups according to the level of obstruction (A. esophagus, B. stomach and proximal duodenum, C. small intestine, D. large intestine, E. multiple obstructions). Results: The prenatal detection rate among all cases was 60.7%. The associated structural malformation and aneuploidy rates were 21.4 and 5.4%, respectively. Twelve neonates died within the first day after birth due to various reasons. The remaining 43 babies underwent surgery at different times according to their clinical conditions. The mean time between birth and surgery was 4.5 days (range, 1-56 days). There were 12 postoperative deaths due to various complications, and one case died at 2 years of age. Overall, 31 of the 56 (55.4%) babies were alive during the follow-up period. The successful prenatal diagnosis rates were 57.2, 85.8, 75, 25, and 80% in groups A, B, C, D, and E, respectively. The median birth weight increased significantly in groups A through D (p = .04). However, there were no intergroup differences in the Apgar scores, associated abnormality rates, time to surgery, and number of babies operated. Conclusions: These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Aberrant right subclavian artery, which is detected in 1-1.5% of the population, is considered an anatomical variant. Aberrant right subclavian artery is usually not symptomatic, but can sometimes lead to dysphagia due to esophageal compression. On the other hand, it has been found that it has accompanied some fetal anomalies in the last two decades. Although aberrant right subclavian artery is seen at a rate of 1-1.5% in normal chromosomal fetuses, it is seen at a rate of 19-36%, especially in fetuses with Down syndrome. STUDY DESIGN: Our study was carried out in the Department of Obstetrics and Gynaecology at Ankara University Faculty of Medicine between the dates of January 2017-January 2020. Pregnant women have had their detailed ultrasonography at our clinic and who were between 18th-24th gestational weeks were included. Amniocentesis was performed on the patients who have accepted, and genetic results were followed up. The patients who did not accept were followed up until after birth, and genetic testing was requested for babies suggestive of anomaly. RESULTS: Our study included 6205 patients who underwent detailed ultrasonography in our clinic between January 2017 and June 2020. Our detailed ultrasonography application week was between 16- 24 weeks. During this period, aberrant right subclavian artery was detected in 47 of our patients. The detection rate of ARSA in the normal population in our study was 0.7% (46/6205). While aberrant right subclavian artery was the only ultrasonographic finding in 28 patients, extra anomalies were observed in 18 patients. Down syndrome was detected in four fetuses, CONCLUSION: We did not find any chromosomal anomalies in any of the patients with isolated aberrant right subclavian artery. Therefore, we do not recommend invasive intervention in patients with isolated aberrant right subclavian artery. On the other hand, our study confirmed that aberrant right subclavian artery screening should be a part of a detailed fetal ultrasonographic examination. Further studies with larger patient groups are needed. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Fetal cerebral ventriculomegaly is defined as enlarged cerebral lateral ventricles. The etiology of fetal cerebral ventriculomegaly is multifactorial. Aneuploidy in ventriculomegaly is detected especially in moderate and severe ventriculomegaly accompanied by structural anomalies. This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. STUDY DESIGN: This retrospective cohort study was conducted at Dokuz Eylul University Faculty of Medicine, Obstetrics and Gynecology Department between January 2009 and December 2019. Eightyseven cases were included in the study and were evaluated for associated structural abnormalities. The results of genetic diagnostic tests were evaluated retrospectively. Postpartum information of the cases was obtained from the hospital records and neurodevelopmental development of the newborns was recorded. RESULTS: Patients were classified as mild, moderate, and severe ventriculomegaly. Concomitant structural abnormalities were observed in 64% of the patients. Corpus callosum agenesis was the most common abnormality. The incidence of accompanying anomalies in severe ventriculomegaly was found to be significantly higher. Invasive prenatal tests were performed on 27 patients and one of them had a chromosomal abnormality. No significant correlation was observed between the incidence of postpartum neurodevelopmental disorders and the degrees of ventriculomegaly. CONCLUSIONS: Fetal cerebral ventriculomegaly is a dynamic process. The etiology is multifactorial and abnormalities can be detected during follow-up. All patients should be evaluated carefully for associated abnormalities. The cases should also be evaluated for neurodevelopmental outcomes after birth. All diagnosis, follow-up, and treatment options should be handled with a multidisciplinary approach. [ABSTRACT FROM AUTHOR]

This study aims to present the termination of pregnancy (TOP) rates and elucidate the decision-making process following a prenatal diagnosis of Trisomy 21 in Turkey. This retrospective single-center study was conducted with 146 pregnant women between January 2016 and December 2019 in a tertiary hospital. Data on maternal characteristics, sonographic findings, indications for chromosome analysis, and educational, religious, and economic factors that can influence the parental decision process were collected. The TOP rate of Down syndrome (DS) in our center was 78.8%. We concluded that maternal age, earlier diagnosis, indication for chromosome analysis, and previous pregnancies had no effect on the TOP decision. On the other hand, not having a minor or a major sonographic sign, employed mothers, middle- and high-income families, and families having a secondary or higher education tended to terminate the pregnancy affected by DS at statistically higher rates. There are many studies worldwide investigating the TOP preferences for DS. However, there is limited data about TOP rates and influential factors affecting the decision-making process in Muslim countries. This study contributes by clarifying the factors in the decision-making process and elucidating perspectives about TOP in a Muslim country with a unique status: Turkey. [ABSTRACT FROM AUTHOR]

Objective: The present study aimed at evaluating and improving the knowledge regarding prenatal test indications by assessing the results of the invasive prenatal tests for the detection of fetal chromosomal anomalies conducted in our tertiary center. Material and Methods: A retrospective study was conducted to collect the results of prenatal invasive procedures performed in our tertiary center between January 2002-September 2017. The types and prevalence of fetal chromosomal anomalies were identified and the efficiency of the invasive procedure indications in predicting these fetal chromosomal anomalies was investigated. Results: The results of 2136 invasive procedures (2014 amniocentesis, 80 cordocentesis, and 42 chorion villus samplings) revealed 101 (4.72%) fetal chromosomal anomalies and 128 (5.99%) chromosomal polymorphisms. The most common chromosomal anomaly observed was trisomy 21 (n=52), followed by trisomy 18 (n=12). In terms of diagnosis of the fetal chromosomal anomalies, the following observations were made: the indication "major structural anomaly in the ultrasound (USG)" exhibited 31.68% sensitivity and 82.03% specificity with an odds ratio (OR) of 2.11 (95% CI: 1.37-3.27); the indication "screening test positivity" exhibited 44.55% sensitivity and 48.25% specificity [OR=0.75 (95% CI: 0.50-1.13)]; and the co-existence of "major structural anomaly in the USG" and "screening test positivity" exhibited 8.91% sensitivity and 98.24% specificity [OR=5.49 (95% CI: 2.54-11.84)]. Conclusion: Fetal chromosomal anomaly rate was observed to be 4.72%. The co-existence of a sonographic major fetal structural anomaly and serum screening test positivity was observed to maximize the risk of numerical as well as a structural chromosomal anomaly. The data from the present study which reflected screening performances of detailed USG and biochemical screening tests for the detection of fetal chromosomal anomalies may be useful for clinicians while performing detailed counseling of patients. [ABSTRACT FROM AUTHOR]

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan ( p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan ( p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average ( p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. Conclusion: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients. [ABSTRACT FROM AUTHOR]

Aim: To demonstrate the effect of the Syrian refugee population on the prevalence of congenital TORCH (Toxoplasmosis, Other [syphilis, varicella‐zoster, parvovirus B19], Rubella, Cytomegalovirus [CMV] and Herpes) infections and to evaluate the cost‐effectiveness of population‐based TORCH screening during pregnancy in Turkey. Methods: Pregnant women (n = 9754) were enrolled. Ultrasonographic findings, immunoglobulin (Ig)M and IgG seropositivity, avidity, amniocentesis and DNA‐polymerase chain reaction (PCR) results were compared. Costs were calculated based on invoice amounts from the Health Applications Communique pricing system. Results: The prevalence of TORCH seropositivity in Turkey was not significantly different between all regions (P > 0.05). Overall, 1333 (13.67%) pregnant Syrian refugees were included in the study. Acute CMV, rubella and Toxoplasma gondii infections (according to low IgG avidity in IgM positive patients) were detected in 17.82%, 21.53% and 14.07% of women, respectively. Twenty‐four women underwent an amniocentesis procedure and nine of them had positive DNA‐PCR and reverse transcription‐PCR results. All women with positive results opted to terminate the pregnancy. There was no statistical difference among groups according to the rate of low IgG avidity in IgM‐positive patients and termination rates for T. gondii, rubella and CMV (P > 0.05). Total cost for screening the entire study population was presented in US dollars (USD). A total of 71 529 and prenatal diagnosis with positive invasive test results were obtained in nine women: toxoplasmosis in four, CMV in three and rubella in two women. Conclusion: Population‐based screening for prenatal TORCH infections is not cost‐effective in Turkey. Syrian refugees have a limited effect on the increasing prevalence of congenital TORCH infections. [ABSTRACT FROM AUTHOR]

Background/aim: The objective of this study is to determine the clinical features of unilateral multicystic dysplastic kidney (MCDK) patients. Materials and methods: The demographic, clinical, laboratory, and radiologic features of MCDK patients at Diyarbakır Children's Hospital and Diyarbakır Gazi Yaşargil Training and Research Hospital between January 2008-June 2019 were retrospectively evaluated. Results: A total of 111 [59 (53.2%) male and 52(46.8%) female] patients with MCDK were followed for a mean period of 41.89 ± 32.03 months. MCDK was located on the left and right sides in 46 (41.4%) and 65 (58.6%) of the children, respectively (p > 0.05). A total of 87 (78.4%) patients had antenatal diagnosis. The mean age at diagnosis was 13.7 ± 34.2 months. Of the 49 voiding cystourethrogram (VCUG)-performed patients, vesicoureteral reflux was detected in 11 patients (22.4%). Other associated urological anomalies in the patients were detected in 12 (10.8%) patients. On Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy which was performed in all patients showed scarring in four children. Eight patients had history of UTI (7.2%). Renal failure, hypertension, and proteinuria were diagnosed in three children (2.7%). Sixty-nine (62%) patients developed compensatory hypertrophy. Conclusion: All cases should be followed up closely and VCUG should be reserved for patients with recurrent UTI and other urological problems indicated by ultrasonography and abnormal DMSA scan results. [ABSTRACT FROM AUTHOR]

Aims. The aims of the study were to determine parents’ anxiety and women's concerns before prenatal testing and women's opinions towards the risk factors for congenital anomalies. Background. Undergoing prenatal screening or diagnostic tests cause potential distress and worry for parents. Little attention has been paid to the psychological aspect of such testing in clinical and research areas. Design. This descriptive study was conducted in a prenatal diagnosis unit in a university hospital in Istanbul. The convenience sample of the study consisted of 200 women and 104 partners who applied for prenatal screening or diagnosis tests. Methods. Women were interviewed by the researcher before they underwent prenatal screening or diagnostic procedures. Data were gathered through interviews using an interview form that addressed women's evaluations for causes of fear and their opinions towards the risk factors for congenital anomalies. Spielberger State Anxiety Inventory was used to assess parents’ anxiety before prenatal testing. Results. Anxiety scores of women and their partners were higher in invasive tests group and suspicious findings group. The possibility of a malformation detected and of it being missed were major concerns of women. Receiving insufficient information about the procedure, undergoing this test for the first time, smoking and lower education was associated with increased anxiety scores in women. Although women knew about some certain risk factors for congenital anomalies like drug use, smoking and malnutrition, their knowledge about other risks were not sufficient. Conclusion. Prenatal tests, both routine screening and prenatal diagnosis, cause anxiety for parents. Understanding women's concerns and awareness of risk factors are important for providing care and counselling. Relevance to clinical practice. Nurses can provide appropriate information and support at each step in the screening and diagnosis process so that parents’ psychological stress is minimised. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Hematology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The aim of this study was to investigate the maternal serum concentrations of copper (Cu) and ceruloplasmin (CP) in patients with mild preeclampsia, severe preeclampsia, hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome, and to determine their association with the severity of the disease.Methods: This study was carried out at the largest tertiary care health center in the southeast region in Turkey and Department of Obstetrics and Gynecology, Dicle University Hospital. A total of 179 pregnant women, including 58 healthy pregnant women and 71 mild preeclampsia, 26 severe preeclampsia, and 24 HELLP syndrome cases classified according to the American College of Obstetricians and Gynecologists' 2013 guidelines were included in this prospective study. Blood samples were taken from all the pregnant women to evaluate the serum Cu and CP levels. The Cu level was determined via atomic absorption/emission spectroscopy, while the serum CP level was assessed with a nephelometric assay using an automatic image analyzer. Spearman's rank correlation tests were used to determine the correlations between the serum levels of the antioxidative markers and the preeclampsia severity.Results: The mean ± SD of the Cu was 81.2 ± 11.84 µg/dl in the mild preeclampsia cases and 160.2 ± 20.89 µg/dl in the severe preeclampsia cases (p < .001). The mean ± SD of the CP was 33.0 ± 4.81 mg/dl in the mild preeclampsia cases and 65.3 ± 9.17 mg/dl in the severe preeclampsia cases (p < .001). The Cu and CP levels were significantly higher in the patients with HELLP syndrome, which is an advanced and more severe form of severe preeclampsia, than in the mild and severe preeclampsia patients (p < .001 and p < .001, respectively). Therefore, the serum Cu and CP levels were correlated with the severity of preeclampsia (r = 859, p < .001 and r = 786, p < .001, respectively). In addition, there was a positive correlation between the serum Cu and CP levels and the systolic and diastolic blood pressure values and aspartate amino transferase levels (AST), and a negative correlation between the serum Cu and CP levels and the platelet count.Conclusion: This was the first study in which the ceruloplasmin and Cu levels were investigated in HELLP syndrome patients. When considering the results obtained in the present study, there were significant relationships between the Cu, CP levels which are the markers of oxidative stress and the preeclampsia severity. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Current Pediatrics / Guncel Pediatri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters.Materials and Methods: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated.Results: Fetal chromosomal polymorphism prevalence was 5.3% (n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% (n = 55); 8.9% (n = 9), and 6.9% (n = 7), respectively]. The most common polymorphic variant was 9qh+ (n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) (p = .028) and higher unconjugated estriol (uE3) (p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants (p = .048) or women having fetuses with normal karyotype (p = .007).Conclusions: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9. [ABSTRACT FROM AUTHOR]

Introduction: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters.Materials and Methods: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated.Results: Fetal chromosomal polymorphism prevalence was 5.3% (n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% (n = 55); 8.9% (n = 9), and 6.9% (n = 7), respectively]. The most common polymorphic variant was 9qh+ (n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) (p = .028) and higher unconjugated estriol (uE3) (p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants (p = .048) or women having fetuses with normal karyotype (p = .007).Conclusions: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9. [ABSTRACT FROM AUTHOR]

Aim Quantitative changes of cell-free fetal DNA in maternal plasma as an indicator for impending pre-eclampsia was reported in different studies. Cell-free fetal nucleic acids can be detected in maternal circulation during pregnancy. Our aim was to determine the higher rate of fetal DNA levels in maternal blood in pre-eclampsia compared to normal pregnancies and the clinical use of real-time polymerase chain reaction ( PCR) in the Turkish population as a marker. Material and Methods According to their gestational ages, the plasma levels of 30 pre-eclamptic women at 26-40 weeks of pregnancy were matched with 18 healthy pregnant women. Cell-free fetal DNA levels in maternal plasma were compared using real-time PCR technology. For the quantitative measurement of fetal DNA from maternal blood, the relative quantification PCR process was applied to all samples, using SRY and GAPDH genes. These patients were classified as pre-eclamptic and control groups and were matched according to weeks of pregnancy. Results Free fetal DNA levels of 30 pre-eclamptic patients were compared to healthy pregnant women and an average 3.06-fold increase was observed. During the second trimester, free fetal DNA levels were 1.5 times higher in pre-eclamptic patients. This increase was 3.5-fold during the third trimester. The DNA increase of pre-eclamptic patients was 4.1-fold and 3.4-fold during 29th-33rd and 34th-40th weeks, respectively. Conclusions Cell-free fetal DNA in maternal blood could be used as a marker for identifying subjects at increased risk of developing pre-eclampsia. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Hematology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article discusses developments in the treatment of intestinal atresia and stenosis in newborns in a developing country over a period of 28 years. A total of 141 intestinal atresia and stenosis cases in Turkey were retrospectively evaluated to determine the progress in treatment and survival rates. Factors affecting the rates of survival of newborns with intestinal atresia include prenatal diagnosis and prematurity.

The variable numbers of tandem repeats (VNTR) locus D1S80, located on chromosome 1 (1p35-36), has a repeat unit 16 bp in length, and different numbers of these repeat units have been observed for populations of different origins and ethnicity. We used a molecular identification method based on capillary electrophoresis separation to analyze D1S80 locus polymorphism among 74 subjects from Denizli province, Turkey, finding an amplified fragment length size of 379–635 bp. Allele repeat numbers were deduced from these sizes and sequence comparison. The most common alleles were repeat units 24 (34.3%) and 18 (22.4%), with frequencies of 0.414 and 0.207, respectively. Other alleles were 25 (7.86%), 28 (5.71%), 22 (4.25%), and 29 (2.86%). The allele with 23 repeat units was not observed. Results were in Hardy–Weinberg linkage disequilibrium. Observed heterozygosity was 0.614, and expected heterozygosity was 0.787. Theta( k) value was 4.86 (95% confidence interval limits). Capillary electrophoresis is a powerful approach for accurate identification of VNTR loci, especially for low base pair units like D1S80, for prenatal diagnosis, linkage analysis, forensic identification, paternity testing, anthropological research, and phylogenetic studies. [ABSTRACT FROM AUTHOR]

Background: Abnormal haemoglobins (Hb) and thalassaemias are some of the most frequently observed hereditary disorders in the world, but especially in the Mediterranean region where Turkey is located. Hatay province is one of the largest provinces in the region, suggested as a target area to be selected for preventive programs after studies by three Turkish universities, i.e. Çukurova, Akdeniz and Hacettepe Universities in Turkey. Aims: The aim of this study was to determine demographic and family characteristics of all haemoglobinopathy carrier married couples registered in the Hatay Provincial Health Directorate registry and to educate the target population about pregnancy, births, prenatal diagnosis and genetic counselling with the particularly emphasised scope of eliminating all haemoglobinopathic births. Study design: Descriptive cross-sectional and intervention study. Methods: 1065 couples both being haemoglobinopathic carriers, registered in the Hatay Provincial Health Directorate registry were investigated for socio- demographic characteristics, obstetrical status and especially for a present pregnancy, the presence of any haemoglobinopathic patients or carrier children in the family. Results: Among women with a history of pregnancy, 47.3% reported that they had never had any prenatal testing, while 33.1% had got received testing in each of their pregnancies. The most frequent reason for not having the test was declared as unawareness of the test (66.0%), followed by economic insufficiencies (17.1%), destiny/religious reasons (9.1%) and family interference (7.8%). After a series of descriptive analyses, the results of the final binary logistic regression model constructed to find out the risk factors significantly affecting the presence of a sick child in the family were grouped as risk increasing factors like age (95%CI between 1.002 and 1.122), marriage before 1994 (95%CI=1.081-4.161), and risk decreasing factors like family willingness for screening (95%CI=0.167-0.854), rate of prenatal testing (95%CI=0.147-0.414), age at first pregnancy (95%CI=0.469-0.882); while the frequency of births was found to have no significant effect (p>0.05). Conclusion: Besides all legal regulations and applications, time is still needed for real success against such a diffuse and congenially transferred disease. The education of the target populations appears to be crucial. Official applications should be forced based upon present or future laws. [ABSTRACT FROM AUTHOR]

The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors. Also, there is a lack of knowledge and interest in genetics among prenatal nurses and in clinical practice to provide education and counseling related to genetics in prenatal settings as a part of prenatal care. [ABSTRACT FROM AUTHOR]

Aims and objectives The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey. Background Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus. Design A quantitative cross-sectional survey. Methods Pregnant women ( n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data. Results Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test. Conclusions This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context. Relevance to clinical practice Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners. [ABSTRACT FROM AUTHOR]

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For the first time in Turkey, we report a thalassemic patient with a homozygous codons 9/10 (+T) genotype. Currently, the patient is 3 years and 2 months old and received an initial transfusion at the age of 18 months. After being alloimmunized following this transfusion, he required frequent transfusions, every week to every other week. Although alloimmunization was controlled after methyl-prednisolone, intravenous immunoglobulin, plasmapheresis and rituximab, the transfusion requirements continued related to hypersplenism. Subsequent to splenectomy, transfusion requirements disappeared with average hemoglobin (Hb) levels around 11.0 g/dL. The mother underwent prenatal diagnosis (PND) when she became pregnant for the third time; this revealed a heterozygous codons 9/10 fetus. [ABSTRACT FROM AUTHOR]

Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have been detected by DNA analysis. In Turkey, beta thalassemia and sickle cell anemia cause major health problems. For thirty years, screening programs for carriers, genetic counseling and prenatal diagnosis have sought to prevent hemoglobinopathies. In 1983, the first prenatal diagnosis center was established for sickle cell anemia and beta thalassemia at Hacettepe University, Ankara. After many population-screening studies, a law was passed in 1993 by the Turkish Parliament for the eradication of hemoglobinopathies. Forty-one premarital screening centers were set up by the Ministry of Health in the 33 provinces where most of the transfusion-dependent thalassemic patients live. The mothers at risk for hemoglobinopathies were given genetic counseling and directed to prenatal diagnosis centers. Since 1990, four prenatal diagnosis centers have been established at university hospitals in Adana, Antalya, Istanbul and Izmir. A total of 5255 prenatal diagnoses have been made for sickle cell anemia and beta thalassemia in 5 centers; 1338 fetuses have been diagnosed as homozygous or compound heterozygotes for hemoglobinopathies. Prenatal diagnosis was performed on families who had decided to terminate the pregnancy if it were to be found that the fetus was affected. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Pathology is the property of Turkish Journal of Pathology and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose To determine whether congenital anomaly visibility affects maternal-infant attachment levels. Design and Methods The study population consisted of mothers who had infants with cleft lip/palate or congenital heart anomalies who were receiving treatment in a university hospital. The data were collected using the Structured Questionnaire Form and the Maternal Attachment Inventory. Results Statistically significant differences in maternal-infant attachment levels were observed between infants with cleft lips/palates and healthy infants and between infants with congenital heart anomalies and healthy infants. Practice implications It is important to apply appropriate nursing interventions for these mothers during the postpartum period. [ABSTRACT FROM AUTHOR]

Background: The aim of this study is to examine the features of critical congenital heart disease (CCHD). Methods: The study was planned as a retrospective cohort study. Data for the study were obtained through national data collection systems and 2018–2020 CCHD cohort was established. In this study, we divided the patients into two groups: Group 1 included seven primary target diseases of the newborn CCHD screening program and Group 2 included secondary target diseases. Results: There were 9884 CCHD cases, with a prevalence of 27.8 per 10,000 live births. Of the cases 44.4% were in Group 1 (12.3 per 10,000) and 54.8% were in Group 2 (15.2 per 10,000). Of all cases 55.5% were male and the female/male ratio was 1/1.2. While 21.8% of the cases were premature, 23.0% were babies with low birth weight (LBW), 4.8% were born from multiple pregnancies. The highest prevalence of CCHD was found in LBW (84.8 per 10,000), premature infants (57.8 per 10,000) (p < 0.001). The fatality rate in the cohort was 16.6% in the neonatal period, 31.6% in the first year of life respectively. The mean estimated survival time in the birth cohort was 40.0 months (95% CI: 39.5–40.6). The mean survival time for Group 1 diseases was 33.4 months (95% CI: 32.5–34.2), while it was 45.4 months (95% CI: 44.7–46.0) for Group 2 diseases (p < 0.001). Preterm birth, LBW, maternal age and region were evaluated as factors associated with mortality risk. Conclusion: This study showed that CCHDs are common in Turkey and mortality rates are high. There are regional differences in CCHD both prevalence and survival. Improving prenatal diagnosis rates and expanding neonatal CCHD screening are of key importance. [ABSTRACT FROM AUTHOR]

Aim Behçet's disease (BD) is a rare and multisystemic vasculitis disease. In this study, we investigated whether BD had any effect on the biochemical components of first and second trimester aneuploidy screening tests. Methods A case-control retrospective study was conducted with 32 pregnant women with BD and 60 healthy pregnant women as controls. All pregnant womens' first trimester maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and second trimester serum alpha-fetoprotein, unconjugated estriol and total human chorionic gonadotropin levels were examined from medical records. First and second serum screening markers were compared between pregnancies with BD and without. Results There was no difference in age, body mass index and obstetric history between the groups. No significant difference was observed between the groups in terms of first and second trimester serum screening test results in the absence of aneuploidy or neural tube defect. Gestational age at birth, birth weight and neonatal intensive care admission rate were also similar between the groups. Conclusion Both first and second serum screening tests for Down syndrome may be recommended to pregnant women with BD without the need to readjust these markers. Pregnancy with BD was not associated with adverse perinatal outcome with respect to gestational age at birth or birth weight. [ABSTRACT FROM AUTHOR]

Objectives. In this study, we aimed to demonstrate the perinatal and neonatal outcomes of patients who were diagnosed with neural tube defect (NTD) in the midtrimester fetal ultrasound scan and refused the request for termination of pregnancy. Material and Methods. The records of 69 patients, for whom NTD was detected in the midtrimester fetal ultrasound scan and who preferred the continuation of the pregnancy after comprehensive counselling about the possible prognosis and treatment options during the period between January 2011 and February 2016, were reviewed retrospectively. Results. Of these patients, 66.7% were 25–35 years old; 95.7% were multiparous; and 1.4% had a history of a fetus having NTD in previous pregnancies. There were 7 (10.1%) neonatal deaths in these patients. Meningomyelocele closure procedure was the most performed surgery in the postnatal period (92%). Of these patients, 30.7% had paraplegia; 51.6% had neurogenic bladder; and 6.4% had infections due to surgery. Conclusion. The results of this study demonstrated perinatal and neonatal outcomes of fetuses with NTD who were not terminated by the preference of the family in midtrimester. The experience of our centre would be beneficial as a tool for nondirective counselling of these patients when considering the antenatal/postnatal care options and postnatal prognosis. [ABSTRACT FROM AUTHOR]

Objective: Nonimmune hydrops fetalis (NIHF) is one of the most difficult problems related to pregnancy. The aim of this study was to evaluate the etiological analysis as well as the fetal and neonatal outcomes of NIHF. Methods: We reviewed the prenatal sonographic data and postnatal medical records of pregnant women diagnosed as NIHF in our hospital between January 2001 and May 2013. All cases were categorized using 12 etiological classification groups. Demographic data, diagnostic laboratory parameters, karyotyping results, sonographic and autopsy findings, postnatal final diagnoses, and perinatal mortality rates were also recorded. Results: This study included 147 cases. The mean gestational age at the time of the initial diagnosis was 23.84±6.30 weeks. Cardiovascular causes were the most common (21.7%), followed by structural abnormalities (17.0%), chromosomal abnormalities (6.8%), and skeletal dysplasias (5.4%). Chromosomal abnormalities were detected in 12.8% of these cases. The most common karyotype abnormality was monosomy X. Postmortem autopsy was performed in 50 (34%) cases, and at least one finding was detected in 40 (80%) of these cases. The overall mortality rate was 78.2%. The gestational week at delivery, birth weight, and Apgar score (1st and 5th min) showed a statistically significant difference between exitus and surviving fetuses (P<0.05). Conclusion: NIHF can lead to high perinatal morbidity and mortality, yet its etiopathology remains poorly understood. Early diagnosis of NIHF gives parents an opportunity to make an informed choice about the possible complications of a pregnancy. [ABSTRACT FROM AUTHOR]

Aims and objectives To determine awareness, use and attitudes of Turkish women towards prenatal screening tests ( PST) for Down syndrome ( DS). Background The technology of screening and diagnosing congenital diseases and abnormalities of foetuses has rapidly developed in the past few decades and prenatal screening for DS in early pregnancy is a valued component representing a cost-effective public health intervention in modern developed countries. Design Cross-sectional and descriptive study. Methods The study was carried out in 518 women in the early postpartum period at the Maternity and Children's Hospital between 1 September 2010 and 1 March 2011 using a questionnaire developed by the researchers. Results Awareness about the first- and second-trimester PST [nuchal translucency ( NT), triple test] was 21·6 and 59·7%, whereas use of them was 13·7 and 44·8%, respectively. Women who had lower education, were unemployed, had a patriarchal family type, had a low income status, were unmarried, had consanguineous marriage and did not have a private doctor were less aware and had less use of NT and/or triple test. Women who did not have a genetic disease in their family, were multiparous, had an unplanned pregnancy and did not receive antenatal care were less aware and had less use of the triple test. In case, the foetus was diagnosed as DS, women made the following decisions: continuing the pregnancy, terminating the pregnancy, leaving the decision to the doctor and being not sure 34·9, 12·0, 29·9 and 23·2%, respectively. Conclusion Women's knowledge about and attitudes towards PST are important. This study shows that Turkish women have limited knowledge about and use of PST. Therefore, health professionals play a significant role in improving patients' information about PST. They should dedicate more time to discussions with women, provide appropriate and understandable information tailored to women's socio-economical level and should emphasise the indications, purposes and limitations of PST. Relevance to clinical practice Discovering women's opinions and knowledge about PST will help healthcare providers determine their information needs. [ABSTRACT FROM AUTHOR]

AIM: The purpose of this study is to analyze the results of 661 amniocentesis cases performed for prenatal diagnosis at a maternity hospital. METHOD: This is a retrospective study for a one year period (2008-2009) of case notes of 661 pregnant women who undergone amniocentesis for prenatal diagnosis and chromosomal abnormalities. Data expressed as actual counts and percentages. RESULTS: The reasons for having amniocentesis were as follows: high risk in triple screening test (44.8%), advanced maternal age (44.5%), abnormal ultrasonographic examination (5.9%), history of previous births with down syndrome or abnormalities (3.3%), history of chromosomal abnormalities in parents (1.5%). The success rate of cytogenetic analysis was 100.0%. Chromosomal abnormalities were observed in 4.2% of the patients. Among those with abnormal ultrasonographic examination chromosomal abnormalities were found to be higher than those with high risk triple test or advanced mother age. Structural chromosomal abnormalities were found lesser than the numerical abnormalities. CONCLUSION: High risk in triple screening, advanced maternal age and abnormal ultrasonographic results were three major indications for amniocentesis respectively. Chromosome abnormalities were detected in 4.2% of cases and most of these abnormalities were found in cases with abnormal ultrasonography. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to investigate the relationships between the maternal levels of oxidized LDL (ox-LDL), lipid peroxidation marker malondialdehyde (MDA) and LOX-1 3'UTR188C/T and K167N single nucleotide polymorphisms in pregnant Turkish women with gestational diabetes mellitus (GDM).Methods: 116 pregnant women with GDM and 120 healthy pregnant women from the same geographic region were included in the study. Polymerase chain reaction-based restriction analysis was used to identify 3'UTR188C/T and K167N polymorphisms of the LOX-1 gene. Plasma ox-LDL and MDA levels were determined by enzyme-linked immunosorbent assay and spectrophotometric method in all study subjects, respectively.Results: Our results indicated that the distribution of the LOX-1 3'UTR188C/T and K167N genotypes and alleles did not differ significantly among subjects with or without GDM (p > 0.05). TT and NN genotype carriers are associated with some glucose metabolism parameters (p < 0.05). There were no significant differences among plasma ox-LDL and MDA levels with regard to LOX-1 3'UTR188C/T and K167N polymorphisms in GDM group and control subjects (p > 0.05). According to the combined genotype analysis of LOX-1 3'UTR 188 TT and K167N NN polymorphisms, plasma MDA and ox-LDL levels were significantly different between women with GDM and healthy subjects either with or without combined TT/NN genotype carriers (p < 0.001).Conclusions: According to our results, ox-LDL and MDA levels were increased in GDM pregnant women and healthy pregnant women either with or without combined TT/NN genotype carriers, for our Turkish sample, these genotype carriers appear to be related with increased oxidative stress in patients with GDM. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Pathology is the property of Turkish Journal of Pathology and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective. To evaluate the characteristics of obstetric malpractice litigations. Study design. This is a retrospective study of 80 expertise reports written for obstetric medico-legal litigations between 2007 and 2017. Results. We showed that obstetric medico-legal litigations have been increasing recently, like in other countries. In most cases, the primary plaintiffs and defendants were the patients and doctors. Most cases (53.7%) were from private hospitals. Intrapartum events and puerperal events were most common claim subjects (77.5%). Among the peripartum claims, shoulder dystocia, fetal asphyxia and caesarean section related complications were the most common claims, with 14 (17.5%), 12 (15%) and 10 (12.5%) cases, respectively. Diagnosis-related claims were subject of 18 (22.5%) cases, 12 of which were related to prenatal diagnosis. The most common issue was found to be fetal morbidities (47.5%). Maternal and fetal mortality occurred in 10 (12.5%) and 22 (27.5%) cases, respectively. The route of delivery was vaginal, through caesarean section, or operative vaginal in 33, 29 and seven cases, respectively. Twenty-six caesarean sections were urgent. Conclusions. Medico-legal claims have been increasing, like in many other countries. Problems involving prenatal screening/diagnosis, intrapartum processes, urgent caesarean sections and operative vaginal deliveries were highly liable situations. Further legal regulations are needed to provide a more comfortable medico-legal climate for physicians. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to examine the characteristics of infant mortality associated with critical congenital heart disease (CCHD). Methods: In a cross-sectional study, data for the study were obtained through Death Notification System, Birth Notification System and Turkish Statistical Institute birth statistics. Results: Of all infant deaths, 9.8% (4083) were associated with CCHD, and the infant mortality rate specific to CCHD was 8.8 per 10,000 live births. CCHD-related infant deaths accounted for 8.0% of all neonatal deaths, while the CCHD specific neonatal death rate was 4.6 per 10,000 live births. Of the deaths 21.7% occurred in the early neonatal, 30.3% in the late neonatal and 48.0% in the post neonatal period. Group 1 diseases accounted for 59.1% (n = 2415) of CCHD related infant deaths, 40.5% (n = 1652) were in Group 2 and 0.4% (n = 16) were in the unspecified group. Hypoplastic left heart syndrome was the most common CCHD among infant deaths (n = 1012; 24.8%). The highest CCHD related mortality rate was found in infants with preterm birth and low birth-weight while multiparity, maternal age ≥ 35 years, twin/triplet pregnancy, male gender, maternal education in secondary school and below, and cesarean delivery were also associated with higher CCHD related infant mortality rate. There was at least one non-cardiac congenital anomaly/genetic disorder in 26.1% of all cases. Conclusion: CCHD holds a significant role in neonatal and infant mortality in Türkiye. To mitigate CCHD-related mortality rates, it is crucial to enhance prenatal diagnosis rates and promote widespread screening for neonatal CCHD. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical features, pregnancy outcome, and treatment of patients with ovarian cancer diagnosed during pregnancy.Methods: The present study was a retrospective review of 11 cases of ovarian cancer detected during pregnancy. The women were treated and followed up at Selçuk University, Meram Faculty of Medicine, Konya, Turkey, during 2006-2010.Results: Approximately half the patients were asymptomatic (5 [45.5%]) and diagnosed during cesarean delivery (6 [54.5%]). The histopathologic tumor categories comprised malignant epithelial ovarian tumor (4 [36.4%]), borderline tumor (4 [36.4%]), malignant germ cell tumor (2 [18.2%]), and sex cord stromal tumor (1 [9.1%]). Nine (81.8%) tumors were classified as stage I. Conservative surgery was performed in 10 (90.9%) patients. A patient with stage IIIC serous papillary adenocarcinoma underwent hysterectomy with bilateral salpingo-oophorectomy. A patient with dysgerminoma in stage IV died on follow-up. Three infants were born premature; they were followed up in the neonatal intensive care unit with satisfactory outcomes.Conclusion: Early diagnosis and appropriate treatment are crucial for patients with ovarian cancer diagnosed during pregnancy. Tumor staging is possible during pregnancy, but the appropriateness of surgery needs to be considered carefully. Ideally, the treatment strategy should be discussed and structured on an individual basis. [ABSTRACT FROM AUTHOR]

Aim: The present study aims to assign the reference values for nasal bone length (NBL) screened at 11-14 weeks of pregnancy in the Turkish population, determining whether the NBLs specified for Caucasians can be validated for Turkish people. Materials & Methods: The values of NBL were investigated in a total of 415 singleton fetuses that had Turkish parents and normal neonatal outcome. Sonographic measurements of NBL were done on a transabdominal midsagittal plane at 11-14 weeks' gestation. Regression analysis was used to assess the relationship between NBL and crown-rump length (CRL). Reference values, including the 5 [ABSTRACT FROM AUTHOR]

Abstract: Project: The aim of the study was to investigate the serum reference range for Selenium (Se), Zinc (Zn) and Copper (Cu) levels in women of 10–14 (group I) and 16–20 (group II) weeks of gestation and compare them with those in non-pregnant healthy women and healthy men. Procedure: This cross-sectional study was performed in 351 pregnant women [group I (n: 177) and group II (n: 174)], 30 non-pregnant women and 30 men as controls. The levels of Se, Zn and Cu levels were determined on flame and furnace atomic absorption spectrophotometer using Zeeman background correction. Results: In the 10–14 weeks of gestation Se, Zn and Cu serum levels were 44.85±9.23, 81.30±31.94 and 132.33±38.24ug/dl, in 16–20 weeks of gestation were 47.18±10.92, 74.25±22.47 and 164.86±39.69ug/dl, in non-pregnant women were 55.38±8.81, 121.41±29.22 and 104.75±39.14ug/dl also in men 72.24±9.28, 134.85±15.95 and 78.29±20.90ug/dl, respectively. Conclusion: A significant low level of serum Se, Zn and a high level of Cu in the pregnant women in the 10–14 and 16–20 weeks of gestation were detected when compared with that of non-pregnant women and men. [Copyright &y& Elsevier]