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Objective: Subclinical hypothyroidism is the most frequent thyroid dysfunction in pregnancy with an incidence of 2-5% which can easily be overlooked due to the absence of clinical symptoms. Studies have shown that thyroid hormones could alter the level of free beta-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) released from the placenta during early pregnancy. Since these two serum markers are the two of the parameters used in the first-trimester combined screening, we hypothesized that distorted risk calculation results could be obtained from pregnant women with subclinical hypothyroidism. Methods: We conducted a prospective and cohort study at a tertiary university hospital in northwest Turkey between February 2018 and June 2018, involving 250 pregnant women in their first trimester who were seeking care at the obstetrics outpatient clinic. After evaluation of thyroid functions, first-trimester screening was performed in all 250 singleton pregnancies with fetuses at 11+0 to 13+6 gestational weeks. Thyroid-stimulating hormone (TSH) values above 2,5 mIU/L were considered high. The correlation between the results and parameters of the first-trimester combined screening and thyroid hormone values was examined. Results: Among the participants, after analyzing the fT4 values, all 35 pregnant women with high TSH values were diagnosed with subclinical hypothyroidism. We observed a statistically weak negative correlation between TSH and ß-HCG, which was expected given the similarities in their alpha subunits. There was no statistically significant correlation between TSH and PAPP-A values, combined risk scores, and age risk scores of first-trimester screening. As a matter of course, combined risk scores of first-trimester screening were found to be statistically lower in younger mothers. Conclusion: Pregnant women with normal thyroid functions and subclinical hypothyroidism were investigated for alterations in first-trimester screening parameters and risk scores. As a result, no statistically significant correlation was found between subclinical hypothyroidism and first-trimester screening. [ABSTRACT FROM AUTHOR]

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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]

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]

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]

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]

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]

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]

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]

Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999. Conclusion: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey. [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: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/ deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap- PCR approach has valuable diagnostic potential in the patients at risk. [ABSTRACT FROM AUTHOR]

Objective: We aimed to document the reasons of perinatal deaths in a large autopsy series performed in our institute, which is a reference center in the Çukurova region of Turkey. Material and Method: The study included 2150 autopsies performed between January 2000 and December 2012 at our institute. Diagnoses were categorized according to the detected pathologies; congenital malformations were detailed based on systems. Results: A pathology was detected in 1619 of 2150 (73.3%) autopsies. Congenital malformations were the most common diagnosis with 68.2%. Neural tube defects and central nervous system malformations were the most frequent system malformation in 28.8% of cases, followed by the urogenital system (11.4%) and musculoskeletal system (8.3%), respectively. Malformation syndromes including multisystem anomalies were defined in 109 cases (9.3%). Conclusion: Congenital malformations are the most common reason for perinatal deaths, with autopsy having an additive role to prenatal and genetic evaluations and providing foresight for planning a subsequent pregnancy. [ABSTRACT FROM AUTHOR]

Purpose: This investigation was conducted to determine whether the month of conception, parental age, and environmental factors such as seasonal variation, consumption of alcohol and cigarette by parents, play a role on sex ratio at pregnancy in Çukurova region and surrounding area population (Turkey). Materials and Methods: We have analyzed tha data of patients who were referred to our prenatal diagnosis laboratory for amniosynthesis with the purpose of karyotyping between the years of 2005-2007. We used Pearsen Chi-square, Fisher's exact and T-tests for statistical analyses. Results: No association was established between the primary sex ratio and time for pregnancy. Differences in primary sex ratio among the months were not statistically significant, but the difference for the month of September was noted. For september, we have found statistically significant distortion of sex ratio toward male, (males:females ratio=1.8). Conclusion: In conclusion, our speculation is that the climate change in September may affect the primary sex ratio under the summer/autumn photoperiod. [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 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.

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]

Objective: To examine whether the intensity of the labor pain has an effect on the development of the mother-infant interaction in Turkish mothers. Methodology: The research was carried out as a descriptive study in a university hospital with an obstetric and gynecology clinic in Erzurum, Turkey. Data were collected between October-December 2006. In this time interval, it was observed and 225 mothers were interviewed having an infant and meeting the research criteria in this obstetric and gynecology clinic. Results: The average scores of mother-infant interaction were statistically significant according to mothers' ages; p-value 0.005 (p<0.05), education level; p-value 0.000 (p<0.001) and labor duration p-value is 0.017 (p<0.05). Labor type didn't effect the mother-infant interaction; p-value 0.539 (p>0.05). The difference between starting period for breast-feeding and interaction scores was statistically significant; p-value 0.000 (p<0.001). Labor pain intensity didn't affect significantly mother-infant interaction; p-value 0.437 (p>0.05), However, when labour pain intensity increased, interaction scores decreased. Conclusion: According to these results, it seems to be important that during antenatal examinations, training programmes about mother-infant interaction for mothers who are older, multigravid, and have lower education level should be implemented. It is also suggested that painless labour technics should be used. [ABSTRACT FROM AUTHOR]

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]

In this article we describe the implementation and evaluation of a community-based antenatal education programme for first-time expectant mothers carried out in ¸Istanbul, Turkey, as part of the Healthy Beginnings Project. We hypothesized that women participating in an antenatal education programme would be more likely to have a vaginal birth, practice recommended maternal and infant health-related behaviours, and adopt a contraceptive method after the birth than a control group, even after statistically controlling for differences in background characteristics. Methods used to evaluate the antenatal education programme included pre- and post-tests with programme participants and a household survey with participants and a control group. All antenatal education course participants, as well as a control group composed of women giving birth to their first child at the same hospitals, were interviewed in their homes by a trained interviewer 2.5-3 months after the baby's birth, starting in October 1998. Results of statistical analyses indicate that a community-based antenatal education programme, such as the one offered as part of The Healthy Beginnings Project in ¸Istanbul, may increase the chance that women will adopt behaviours beneficial to health in the period following a birth. In particular, behaviours related to infant health (breastfeeding and infant check-up) and contraception appeared to be influenced by participation in the programme. In a developing country such as Turkey, with persistent maternal and child health problems, there is an urgent need to increase both demand for and quality of reproductive health services. Antenatal education is not the only answer, but it can be part of the answer. Reaching couples early in their reproductive lives may encourage them to adopt healthy behaviours and make use of available services during their reproductive years. [ABSTRACT FROM AUTHOR]

Background/aim: The aim of this study was to determine fetal nuchal translucency (NT) thickness nomogram values in first trimester in a Turkish population and compare them with previously reported European and Asian nomogram data., Material and Methods: Ultrasonographic measurements of crown-rump length (CRL) and NT thicknesses were obtained from 11 to 14 weeks of gestation in a normal Turkish population. Pregnant women with singleton pregnancy and fetal CRL between 45 and 84 mm were included in the study. The mean 1st, 3rd, 5th, 50th, 90th, 95th, 97th, and 99th percentiles and fixed cut off values of ≥ 2.5 mm, ≥ 3 mm, ≥ 3.5 mm NT thicknesses for a CRL between 45 and 84 mm were determined., Results: A total of 1605 healthy fetuses were enrolled in the study. The sonographic measurements were performed on 1541 (%94) fetuses transabdominally and on 99 cases (%4) by the transvaginal route. The mean NT thickness for CRL between 45 and 84 mm was 1.57 ± 074 mm, and the mean 95th, 97th, and 99th percentiles of these values were 2.82 mm, 3.17, and 4.75 mm, respectively. The incidence of NT thicknesses at fixed points of ≥ 2.5 mm, ≥ 3 mm, and ≥ 3.5 mm in normal fetuses were 6.7%, 4.1%, and 2.1%, respectively., Conclusion: The present study demonstrated the nomogram data of fetal NT thickness in a Turkish population. We think that this report will be useful for further research related to NT thickness values on the prenatal diagnosis for the first trimester chromosomal abnormalities in Turkish populations., Competing Interests: The author declares that there are no conflicts of interest., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

Aim: To present an alternative endovascular treatment option for the vein of Galen aneurysmal malformation by ethylene-vinyl alcohol copolymer embolization via a double-lumen balloon microcatheter., Material and Methods: A female patient was suspected with the vein of Galen aneurysmal malformation in the prenatal period and diagnosed choroidal type vein of Galen aneurysmal malformation. Once the patient was symptomatic with severe cardiac failure, an endovascular treatment decision was made. In the first step, a mixture of N-butyl cyanoacrylate-lipiodol was used for embolization. In the second session of the treatment, ethylene-vinyl alcohol copolymer was administered through a double-lumen balloon microcatheter., Results: Complete cure of the aneurysmal malformation was obtained by no filling was observed in arterial feeders, collapsed appearance of the vein of Galen, and arterial-venous shunts at the end of the five-year follow-up period with magnetic resonance imaging and angiography., Conclusion: Ethylene-vinyl alcohol copolymer embolization via double-lumen balloon microcatheter provides an alternative and effective endovascular treatment option for the vein of Galen aneurysmal malformations using less contrast agent in less procedural time. Also, the possibility of spontaneous regression of residual aneurysmal malformations with small feeders should be considered.

Toxoplasmosis is a common infection worldwide caused by Toxoplasma gondii , an intracellular parasite. The prevalence of Toxoplasmosis ranges from 17.5% to 69.5% in Turkey. Toxoplasmosis is mostly asymptomatic. It may cause fetal mortality in case of vertical passage. The most common clinical findings in congenital toxoplasmosis are chorioretinitis, hydrocephalus and cerebral calcification. Another group of susceptible patients for Toxoplasma gondii are immunesuppressive patients. Reactivation of a latent infection in the case of immunodeficiency can lead to fatal toxoplasmic encephalitis. Serological diagnostic methods based on the detection of specific antibodies for Toxoplasma gondii are the most commonly used diagnostic methods. However, it may be difficult to interpret the results in pregnant women, neonates, and the patients receiving treatment. It is stated that using more than one method together to improve the reliability of the diagnosis is a more accurate approach. In the prenatal diagnosis of congenital toxoplasmosis, in patients with immunodeficiency, in ocular toxoplasmosis, the polymerase chain reaction is seen as having a higher sensitivity. The aim of this review is to present the general features, diagnostic methods and current approaches in toxoplasma infection, an important public health problem.

Objective: Cardiovascular disease (CVD) is the leading cause of death during pregnancy. Therefore, its detection early in pregnancy is of great importance. In this study, we aimed to investigate the rate and spectrum of CVD among healthy women in the first trimester of pregnancy., Methods: A total of 900 women in the first trimester of pregnancy, who attended the antenatal outpatient clinic of a tertiary care center in Ankara, Turkey, for a routine pregnancy examination, were recruited into this prospective study. Patients with a history of chronic systemic diseases, CVD, and/or a family history of an early onset CVD, and multiple pregnancies were excluded. Patients who were included in the study underwent electrocardiography and transthoracic echocardiography by the same cardiologist., Results: The rate of newly diagnosed CVD cases among asymptomatic pregnant women without any cardiac or clinical risk factors was 5.2% (n=47). The following CVDs were detected: rheumatic heart disease (n=26; 55.3%), congenital heart disease (n=13; 27.6%), and isolated valve disease (moderate and severe) (n=8; 17%). The mitral valve prolapse was detected in 32 women (3.5%) and atrial septal aneurysm in 51 women (5.67%). Thirty women (3.3%) had arrhythmia., Conclusion: The CVD rate of 5.2% among healthy women in the first trimester of pregnancy shows that the clinicians must keep in mind that during pregnancy, physiological changes in the cardiovascular system may aggravate an undiagnosed disease, and they should be alert even in case of mild cardiac symptoms that may interfere with pregnancy complaints.

Objectives: This study was conducted in order to produce translation, cultural adaptation, and validation of Assessment of Pelvic Floor Disorders and Their Risk Factors During Pregnancy and Postpartum Questionnaire (APFDQ) to Turkish in pregnant and postpartum population., Material and Methods: The study included 80 pregnant women. Internal consistency was tested using Cronbach's alpha. Questionnaires were applied three different times in order to assess for sensitivity. Patients were asked to complete the questionnaire first in the third trimester, secondly in postpartum 6th week and finally in postpartum 6th month after birth. For translation process content, face/content validity, reliability, construct validity and reactivity studies were done. All women had undergone pelvic examination and prolapse was assessed by using Pelvic organ Prolapse Quantification System (POP-Q). Urinary symptoms were also evaluated with Urinary Distress Inventory (UDI-6) questionnaire., Results: The mean age of patients was 27.7 ± 5.5 years. Forty-one (51.25%) of the patients had vaginal delivery and 39 (48.75%) had a cesarean section. Above 96% of the patients had completed the questionnaires. POP-Q assessments and UDI-6 results were used to evaluate construct validity. Cronbach's alpha results were found to be 0.7 for all the subscales of the questionnaire: bladder: 0.702, bowel: 0.744, prolapse: 0.701, sexual function: 0.706 respectively, indicating adequate reliability. The test/retest reliability was studied and Pabak values showed moderate reliability in the bowel, prolapse and sexuality, and good reliability for bladder subscale. The results of the patients were compared between pregnancy and postpartum to assess reactivity and shown to be reactive to changes. Also risk factors of the patients were assessed including, family predisposition, maternal age over 35 years, BMI > 25, nicotine use, subjective inability to contract pelvic floor and sense of postpartum wound pain., Conclusions: The Turkish version of APFDQ is a reliable and valid tool. It can be used for assessing the risk factors, incidence, assessing degree of PFDs and evaluating the impact on quality of life in pregnant and postpartum women.

Objective: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients., Material and Methods: We reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010-March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained., Results: The mean gestational age at first US diagnosis was 24.5 ± 2.9 weeks. 13 (54.1%) of fetuses were female, and 11 (45.9%) were male. Ureterocele was associated with the duplex kidney in 17 (70.8%), MCDK in 5 (20.8%) and hydronephrosis with a single system in 1 (4.2%) and pelvic kidney in 1 (4.2%) fetuses. Postnatal follow-up was achieved in 22 of 24 (91.6%) cases, and mean follow-up interval was 56 ± 14.2. Months. The diagnosis of ureterocele was confirmed in 22 (91.6%) cases postnatally. 15 of 22 (68%) cases were classified as extravesical ureterocele, and 7 (32%) cases were intravesical ureterocele. Postnatal confirmation of duplex kidney achieved in 16 of 17 (94.1%) patients. 17 (77.2%) patients were required surgical intervention, and 5 (22.8%) cases were managed conservatively. 15 of 16 (93.7%) cases who were diagnosed duplex kidney underwent surgery however 2 of 5 (40%) cases which were confirmed MCDK required an operation. Cystoscopic ureterocele incision was the initial approach for the surgical management and performed all of the cases which required surgery. It was curative in 10 of 17 (58.8%) patients and 7 (41.2%) cases needed to further operations. Ureteroselectomy and common-sheath ureteroneocystostomy was performed in 5 (29.1%) cases and. 2 (%11.7%) cases underwent partial nephrectomy., Conclusion: Ureterocele can be accurately diagnosed by prenatal sonography, and it is a significant clue for the diagnosis of a duplex kidney. Postnatal prognosis depends on associated anomaly and presence of reflux and upper pole function., (Copyright © 2019. Published by Elsevier B.V.)

Objective: Echinococcus granulosus, the etiological agent of cystic echinococcosis (CE) in humans and livestock, is a widely distributed zoonotic pathogen tapeworm. The infection is transmitted to humans by the ingestion of E. granulosus eggs released in the feces of definitive hosts such as dogs. The larval stage of the parasite develops a slowly enlarging cyst in the visceral organs, particularly in the liver and/or lung. The aim of the present study was to evaluate the diagnostic value of an immunochromatographic test (ICT) for CE., Methods: A total of 50 sera from surgically and/or pathologically confirmed patients with CE were included in the study as the study group; the control group comprised patients who tested negative for enzyme-linked immunosorbent assay (ELISA). Sera were selected from the collection at Adnan Menderes University, Faculty of Medicine, Parasitology Laboratory, by simple random sampling. The collection included sera obtained between 2010 and 2014; antibody titers of each serum sample were determined using in-house ELISA, before storage at -20°C. The presence of E. granulosus antibody in the sera was determined using a commercially available ICT (VIRAPID® HYDATIDOSIS) kit method., Results: In the study group (E. granulosus-confirmed cases), two (4%) of the 50 sera were negative and 48 (96%) were positive with ICT. In the control group (ELISA-negative), all were negative with ICT., Conclusion: The rapid diagnostic test has been evaluated as a practical, easy-to-use method for detecting CE, and it can be used as a screening test in routine diagnosis and research.

Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa tyrosine phosphoprotein and associates with the ζ chain and undergoes tyrosine phosphorylation following TCR stimulation. It is expressed in T and natural killer (NK) cells. Several mutations were shown to lead to an autosomal recessive form of severe combined immunodeficiency disease (SCID). Here, we present a family with a novel mutation in ZAP70. The proband, the second child of the first cousin parents of Turkish origin, was diagnosed with SCID having R514C mutation on homozygous state. She had decreased CD8(+) T and natural killer cells, normal CD4(+) T cells, high serum Ig E level, perivascular dermatitis and ichthyosis. This article presents clinical features of a novel mutation on ZAP70 and the first prenatal molecular diagnosis of ZAP70 deficiency. Different mutations in ZAP70 and related phenotypes reported in the literature are also discussed., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Here we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin. Our patient is the first reported case of PKAN in Turkey with molecular genetic confirmation of the diagnosis. The frameshift mutation c.821&#95;822delCT of the PANK2 gene detected in our patient has only been described in such classic patients to date, and our case provides further evidence of the association of this mutation with the classic PKAN phenotype. Since this mutation is a rare disease-causing mutation in other populations, further studies of more Turkish PKAN patients will show if it is the result of a founder effect in this population. In our case, molecular diagnosis allowed accurate prenatal genetic testing and counseling for this family. This case report highlights the importance of magnetic resonance imaging and molecular investigation in children who have progressive neurodegenerative symptoms of parkinsonism, dystonia, pyramidal features, and dementia.

Objective: To evaluate the results of cordocentesis carried out in our clinic at Meram Medicine Faculty of Selcuk University in Konya, Turkey., Materials and Methods: Cytogenetic results and complication data were obtained by cordocentesis from 250 pregnancies performed in our clinic., Results: Adequate amount of cord blood was taken 98% of the time, the successful culture rate was 92.8%, and none of the 18 cases in which no proliferation was detected in the culture accepted a new intervention. Cordocentesis was performed in 14 cases (5.6%), because no results were obtained from amniocentesis carried out for various indications. According to cytogenetic evaluation, chromosomal abnormality was detected in 12 cases (5.17%), including four cases of trisomy 21, four cases of trisomy 18, one case of trisomy 13, one case of triploidy (69,XXX) and two cases of chromosomal inversion. Of the 250 cordocentesis cases, there were 12 (4.8%) cases of fetal loss, including four cases of rupture of membranes, four cases of abdominal pain and vaginal bleeding and four cases of a spontaneous abortus. In 53 (21.2%) cases, cordocentesis was performed because of hydrops fetalis; and of the total 12 losses, six were in this group. The fetal loss rate was 11.32% in the hydrops fetalis group., Conclusion: If cordocentesis is carried out by highly skilled physicians and optimal culture conditions are available, cordocentesis is an invasive prenatal diagnostic and therapeutic procedure that is performed secondary to amniocentesis with high accuracy and safety. In cases of hydrops fetalis in which cordocentesis is carried out, fetal loss is more likely to occur.

Objective: To find out whether there is considerable influence on second trimester serum concentrations owing to the rhesus status., Study Design: This retrospective cohort study was performed at the Perinatology Unit of the GATA Haydarpasa Teaching Hospital. During the study interval, 2265 pregnancies met inclusion criteria. The blood samples were collected in 117 pregnancies with a maternal rhesus-negative blood group status. The control group consisted of 2148 pregnancies with a maternal rhesus-positive blood group status. Statistical analysis was performed by SPSS 11.0 statistical software., Results: Pregnancies with a maternal rhesus-negative blood group status were identified in 117 patients. The overall prevalence of pregnancies with a maternal rhesus-negative blood group status were 5.1% in our study. Only unconjugated estriol multiples of the median values were significantly decreased in rhesus-negative women (P<0.001). Alpha-fetoprotein and human chorionic gonadotrophin multiples of the median values did not differ significantly (P>0.05)., Conclusion: We conclude that if second trimester screening test to be used in Rh negative pregnancies, either the corrected value should be referred or double test result should be considered ignoring the unconjugated estriol result. Another option is the first trimester Down syndrome screening test.

In this study, it was aimed to determine the ratio of CMV seroconversion in pregnant women, the prevalence of maternal CMV infection and also the incidence of congenital CMV infection in their newborns in the Antalya region of Turkey. During a one-year period, CMV-specific IgG and IgM were determined in all (n: 1027) pregnant women admitted at 8 to 20 weeks of gestation, an according to the presence or absence of anti CMV-IgM and CMV-IgG, pregnant women were classified as seropositive, seronegative and having maternal CMV infection. Differentiation of primary and recurrent CMV infection in women with both CMV-IgM (+) and CMV-IgG (+) antibody was determined by the avidity index (AI) of anti-CMV IgG. Ultrasonographic examination was done and amniocentesis was performed at 21 to 23 weeks of gestation in pregnants with primary infection. CMV DNA was investigated in the amniotic fluid by quantitative polymerase chain reaction (qPCR). Pregnants with recurrent infection were followed only by ultrasonography for the presence of fetal abnormalities. Neonates born to mothers with CMV infection were examined for the findings of congenital CMV infection and screened for anti- CMV-IgM, CMV DNA and CMV antigenemia in the first two weeks of life. The rate of seropositivity was found as 98.5% and the rate of seronegativity as 1.5% in pregnant women. The prevalence of maternal CMV infection was found as 1.2% and among these pregnant women, the incidence of primary and recurrent maternal CMV infection was 0.3% (3 women) and 0.8% (12 women), respectively. Congenital CMV infection was detected in one of the newborns born to mothers with primary infection while no infection was detected in any of the newborns of mothers with recurrent CMV infection, so the incidence of congenital CMV infection was found as 0.1% and the rate of intrauterine infection following the primary maternal infection was 33%. In conclusion, seroprevalence rate of CMV in pregnants is high and most (66%) infections are recurrent maternal CMV infection in our region. Thus, it does not seem to be cost-effective to screen all pregnant women for CMV infection, as in the other countries with high seropositivity rate.

Small supernumerary marker chromosomes (sSMCs) are often associated with developmental abnormalities and malformations are de novo in approximately 60% of the cases. Fluorescence in situ hybridization (FISH) techniques using various probes provided the possibility to analyze and characterize sSMCs, which is highly important for prenatal diagnosis and genetic counseling. We now present the establishment of a specific strategy to identify the origin and structure of the sSMCs using a combination of conventional banding and classical FISH techniques. Based on this strategy, in a series of 15,792 prenatal karyotypes, 20 cases with sSMCs (prevalence 1.26 per 1000) were diagnosed. Eighteen of these cases were completely analyzed by FISH using commercial probes and Chromoprobe Multiprobe-I System. Out of 20 sSMCs 12 were satellited (10 bisatellited and two monosatellited) (60%) and eight were non-satellited (six ring-like and two isochromosomes) (40%). sSMCs were mostly derived from chromosome 15 (10/20) (50%). Euchromatin material was found in 13 cases by various banding and FISH techniques, while in six of 20 sSMCs there was no evidence of euchromatin material. Parental karyotypes could be evaluated in 15 cases and familial inheritance was found in only three of them (20%). We conclude that the proposed strategy for the identification and characterization of sSMCs is accurate and represents a good alternative to novel FISH techniques for modestly equipped cytogenetic laboratories.

We report a Turkish family with parental consanguinity and at risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency. The proband was a premature male infant that presented with hydrops, hepatomegaly, respiratory distress syndrome, and anemia and that died of respiratory insufficiency 2 months after birth despite intensive care. An abnormally increased [14C]methylamine incorporation and an isolated deficiency of lysosomal alpha-N-acetyl-neuraminidase were found in cultured skin fibroblasts. A previous pregnancy of the mother terminated in a spontaneous abortion in the 13th week of gestation. A successive pregnancy showed hydrops fetalis, and an enzymatic assay of cultured amniotic fluid cells indicated a deficiency of alpha-N-acetyl-neuraminidase. Following pregnancy termination at 20 weeks gestation, light microscopy of fetal tissues revealed classic vacuolation not only in liver, bone marrow, brain, and kidney, but also in endocrine organs such as the thyroid gland, adrenal gland, hypophysis, and testes, and in the thymus. DNA analysis of the family showed that both the proband and the third sibling had a novel homozygous nonsense point mutation at nucleotide 87 in exon 1 of the alpha-N-acetyl-neuraminidase (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X). DNA sequencing of polymerase chain reaction products identified the parents as heterozygous carriers. To detect neu1 mRNA expression, a real-time reverse transcription/polymerase chain reaction was performed, and similar rates of neu1 mRNA expression were found in the fibroblasts of the fetus, the 2nd sibling, and in controls. The very early termination codon with complete loss of neuraminidase activity is probably the molecular basis of the unusually severe vacuolation pattern in this form of congenital sialidosis.

By using oligonucleotide hybridization, restriction endonuclease analysis and direct sequencing of amplified genomic DNA, we have been able to characterize 18 different mutations in the beta-globin genes of 161 beta-thalassemia homozygotes and 107 beta-thalassemia heterozygotes from Turkey (429 beta-thalassemia chromosomes). Previous studies dealing with beta-thalassemia in Mediterranean countries have shown that, in most Mediterranean populations, only a few mutations are prevalent. In contrast, beta-thalassemia in Turkey does not seem to be associated with a few predominant mutations. The six most frequent alleles, IVS-I-110 (G----A), IVS-I-6(T----C), FSC-8 (-AA), IVS-I-1(G----A), -30(T----A) and FSC-5 (-CT), account for only 69.3% of the disease genes; indeed, all 26 mutations assayed represent 85.8% of the disease genes, confirming the considerable molecular heterogeneity of beta-thalassemia among Turks, and indicating the possible presence of rare, previously undefined, mutations in the population. Two mutations observed in this study, IVS-I-116 (T----G) and Cd44(-C), have not been reported in the Turkish population to date. Since preventive medical services, such as genetic counseling and prenatal diagnosis, are greatly improved by detailed knowledge of the molecular pathology of beta-thalassemia, we strongly believe that the presented data will facilitate the intended establishment of a prenatal diagnosis center, based on DNA analysis, in Turkey.

Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely beta+ IVS-1 nt 110, beta zero IVS-1 nt, beta+ IVS-1 nt 6, and beta+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the beta thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of beta thalassaemia by DNA analysis in the Turkish population.