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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: 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]

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]

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]

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]

We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in İstanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation. Molecular analyses were performed in 25.5% (n: 76) of families, and 21 novel variants were identified. Classification according to International Skeletal Dysplasia Society-2019 revision revealed limb hypoplasia-reduction defects group (39) as the leading one, 24.5%, then followed by FGFR3 chondrodysplasias, osteogenesis imperfecta, and decreased mineralization and polydactyly-syndactyly-triphalangism groups 13.6, 11.1, and 8.9%, respectively. The inheritance pattern was autosomal recessive in 54% and autosomal dominant in 42.6% of index cases. The overall consanguinity rate of the cohort was 33%. The high prevalence of ultrarare diseases along with two or more unrelated autosomal recessive entities running in the same family was noteworthy. This study highlights the pivotal role of postmortem evaluation by an experienced clinical geneticist to achieve a high diagnostic yield in fetal skeletal dysplasia cohorts. The cohort is not only a representation of the spectrum of skeletal dysplasias in a population with a high consanguinity rate but also provides an ideal research group to work on to identify the unknowns of early fetal life., (© 2022 Wiley Periodicals LLC.)

Aim The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis ( AS) cases from Turkey. Material and Methods Second-trimester amniocentesis cases performed in Suleymaniye Maternity Hospital for Research and Training between January 2007 and December 2011 were included. Results During this period, 6124 AS were performed. Indications were increased risk in maternal serum screening ( MSS) (56%), advanced maternal age (29%) and pathologic ultrasound finding (11.5%). Most frequent MSS abnormality was abnormal triple test result (58%). Overall culture success rate was 98.8%. Chromosomal abnormality was detected in 215 (3.6%) of the 6052 cytogenetic results (74.9% numerical, 25.1% structural). Most frequent numerical chromosomal abnormality was trisomy 21 (61.9%). Clinically insignificant polymorphisms were the most frequent structural changes ( n = 571). Most frequent polymorphism was increase in heterochromatin region in the 1st chromosome ( n = 158). Advanced maternal age had a positive predictive value of 5.2%. Among the MSS tests, the combined test had the highest positive predictive value (5.2%). Conclusions In our study, abnormal MSS (and among these, abnormal triple test result) was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality. [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]

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]

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]