Purpose: Despite the rapid expansion of noninvasive genomic technologies, invasive procedures such as chorionic villus sampling (CVS) remain indispensable for providing definitive, early prenatal genetic diagnoses. This study aimed to assess the diagnostic value and effectiveness of CVS in the early detection of chromosomal and genetic abnormalities in a cohort of 912 Polish women. Patients and Methods: This retrospective cohort study included 912 CVS procedures performed between 2010 and 2024 at a tertiary referral center. Indications, sampling success rates, and genetic results were analyzed. Fetal samples were examined using conventional karyotyping, chromosomal microarray analysis, and digital PCR. Results: Of 912 procedures, 903 (99.0%) were technically successful, with 844 included in the final cytogenetic analysis. The most common indication was abnormal ultrasound findings (79.9%). Chromosomal abnormalities were found in 40.05% of cases, with trisomy 21 (16.8%), trisomy 18 (8.8%), trisomy 13 (3.1%) and monosomy X (4.6%) being the most frequent. Mosaicism was detected in 8 cases, and maternal cell contamination in 9. Conclusion: CVS is a valuable method of early prenatal genetic diagnosis, especially in high-risk pregnancies, where early and personalized genomic assessment can have a significant impact on clinical decision-making. Emerging genomic technologies are likely to complement CVS, underscoring its continued relevance in genomic medicine and personalized prenatal care.

Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to be played by copy number variants (CNVs). The present study examines the role of copy number variation in the development of isolated ASD, or ASD with additional clinical features, among a group of 180 patients ranging in age from two years and four months to 17 years and nine months. Samples were taken and subjected to array-based comparative genomic hybridization (aCGH), the gold standard in detecting gains or losses in the genome, using a 4 × 180 CytoSure Autism Research Array, with a resolution of around 75 kb. The results indicated the presence of nine pathogenic and six likely pathogenic imbalances, and 20 variants of uncertain significance (VUSs) among the group. Relevant variants were more prevalent in patients with ASD and additional clinical features. Twelve of the detected variants, four of which were probably pathogenic, would not have been identified using the routine 8 × 60 k microarray. These results confirm the value of microarrays in ASD diagnostics and highlight the need for dedicated tools.

Mandibulofacial dysostosis with microcephaly (MFDM) is caused by haploinsufficiency of EFTUD2 gene. This syndrome is characterized by microcephaly, malar and mandibular hypoplasia, ear abnormalities, developmental delay, and intellectual disability. In this study, we report two cases of fetuses presenting a phenotype consistent with MFDM and confirmed EFTUD2 gene variants. The patients were referred following abnormal ultrasound findings. Genetic diagnostics in both cases revealed heterozygous variants in the EFTUD2 gene that had not been previously reported prenatally. In the first patient, exome sequencing identified a c.2698_2701del p.(Val865Serfs*34), while in the second a novel large deletion involving multiple genes, including the entire EFTUD2 gene, was detected by microarray analysis. Prenatal diagnosis of MFDM requires precise ultrasound assessment. Therefore, consideration of characteristic features observed in fetuses with MFDM is essential for differential diagnosis and guiding targeted genetic testing.