Publications by authors named "P Wlasienko"
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.
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- Genetic testing (GT) is crucial for diagnosing and managing cardiovascular diseases, as it helps predict outcomes, guide therapy, and prevent sudden cardiac death.
- The position statement highlights the lack of GT availability in Poland, discussing its relevance for patients and their families, and proposing specific recommendations for improving access and practices.
- The article emphasizes the need for legal reforms and better integration of cardiologists and clinical geneticists in GT processes to ensure patient rights and effective counseling.
Article Synopsis
- Genetic testing (GT) is vital in diagnosing and managing cardiovascular diseases, helping predict outcomes and preventing sudden cardiac death.
- The document highlights the current lack of GT availability in Poland and aims to improve access and practice, while also addressing the genetic basis of various cardiovascular conditions.
- Recommendations are provided for GT implementation, taking into account patient rights, legal regulations, and the roles of cardiologists and geneticists in care and counseling.
Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing.
View Article and Find Full Text PDFThe aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.
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