Assessment of second-trimester amniocentesis cases: 10-year experience of a tertiary center

Objective The aim is to contribute to the literature by carrying out retrospective analysis of the cases who underwent amniocentesis in our clinic and sharing our relevant experience. Methods A total of 632 cases who underwent amniocentesis in the second trimester were included in our study. The cases’ demographic characteristics, weeks of gestation, amniocentesis indications, procedure-related complications, culture success, cytogenetic results, and the results and indications of the cases found to have chromosomal anomalies were evaluated. Chromosomal anomalies, their complications, culture failure rates and most common amniocentesis indications were reported. The results of the cases with chromosomal anomalies were presented as numerical and structural anomalies. Results The mean age of all cases included in our study was 33.7±6.8 years, and their mean weeks of gestation were 17.5±1.0 weeks. The rate of the cases found to have chromosomal anomaly by amniocentesis was 22.4%, the culture failure rate was 2.1%, and complication rate was 0.5%. The most common amniocentesis indications and the amniocentesis indications in cases found to have chromosomal anomaly were the same, and they were as following respectively: combined test being high risk, triple screening test being high risk and presence of anomaly in the ultrasonography (USG). The rate of detecting chromosomal anomaly was higher in the cases who had multiple indications and underwent amniocentesis. Conclusion Although USG and serum screening tests are used commonly for prenatal diagnosis, invasive tests such as amniocentesis are needed for the final diagnosis in patients with high risk. We concluded that amniocentesis is more important for prenatal diagnosis in cases who are under risk of having multiple chromosomal anomalies in the screening tests

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease