becoming widely used globally and replacing traditional screening methods in developed countries. The accuracy of NIPT in detecting aneuploidies is extremely high and there has been a recent trend towards improving NIPT for detecting microdeletion and microduplication syndromes, monogenic diseases, fetal sex determination, and RH genotyping. Significant progress has been made in molecular analysis techniques of fetal DNA, including methods such as massively parallel sequencing, RNA-based testing, digital PCR, and single nucleotide polymorphism analysis. We present the case of a 32-year-old patient who, at 12 weeks of gestation, had a non-invasive prenatal test result showing a maternal 22q11.2 deletion. Following genetic consultation, further investigations were conducted to stratify the fetal risk of inheriting the microdeletion syndrome. As a result, microarray CGH cytoarray from amniotic fluid was performed, and no 22q11.2 deletion was detected. In this case, complete elucidation of the origin of the deletion found in NIPT could not be achieved, as it would require arrayCGH testing for the mother, a test that was not performed due to financial reasons. Given the high rate of genetic syndromes with potential impact on fetal development and familial psychological impact, we wish to emphasize the necessity of financial support from the state to introduce non-invasive prenatal testing into the list of reimbursed analyses covered by health insurance. This would enable superior testing and, implicitly, genetic prevention of all pregnancies, facilitating appropriate risk stratification of pregnancies in our country.

Primary vaginal sarcoma is an extremely rare malignant condition within the field of gynecological pathologies. We present the case of a 53-year-old patient with no history of gynecological issues or associated comorbidities who presented to our clinic with recurrent vaginal bleeding during menopause. We want to emphasize the importance of diagnostic management, going through all the necessary steps from local gynecological examination to vaginal biopsy, optimizing results with advanced imaging techniques. Once the histopathological diagnosis of vaginal leiomyosarcoma was established, the therapeutic approach was discussed within a multidisciplinary committee consisting of a gynecologist, surgeon, and oncologist. As a result, the patient underwent tailored surgical intervention relatively quickly after presentation, followed by referral to the oncology department, where she is currently undergoing her third course of adjuvant chemotherapy. Our current objective is the long-term follow-up of the patient and the acquisition of data regarding her survival and quality of life. These facts may contribute in the future to the implementation of standardized therapeutic guidelines for such a rare condition. Keywords: vaginal sarcoma, malignant condition, vaginal leiomyosarcoma, surgical intervention, chemotherapy.

Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disorder manifests clinically as growth deficiency, skin anomalies, immunodeficiencies, insulin resistance, and a high predisposition to cancers. Less than 300 patients have been reported so far. In this paper, we report on the first Romanian patient of bi-ethnic origin, molecularly diagnosed with Bloom syndrome. As the most severe complications of the disorder are the malignancies, developing even in childhood, an early diagnosis is essential for further surveillance and therapeutic approach of Bloom patients.

The cerebral cortex shows a precise layering of multiple neuronal types with distinct form and function, essential for the cognitive functions that define us as humans. Remarkably, cortical neurons are not formed in the cortex itself but in specialized proliferative regions deep in the brain, so that postmitotic neurons must migrate as far as 1000 cell body-lenghts to reach their final destination[1]. [...]