A5034130006- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- demographic modeling and climate adaptation
- RNA modifications and cancer
- Medical Coding and Health Information
- RNA regulation and disease
- Health Systems, Economic Evaluations, Quality of Life
- DNA Repair Mechanisms
- Clinical practice guidelines implementation
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Health, Environment, Cognitive Aging
- Testicular diseases and treatments
- Reproductive Physiology in Livestock
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Kruppel-like factors research
- Healthcare Quality and Management
- Biomedical Text Mining and Ontologies
- Parvovirus B19 Infection Studies
- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Medical Practices and Rehabilitation
- RNA Interference and Gene Delivery
KU Leuven
2014-2025
Hudson Institute
2018-2020
John Wiley & Sons (United Kingdom)
2018-2020
Euroquality
2018
To investigate maternal characteristics, underlying factors and perinatal outcome in pregnancies with persistent uninterpretable prenatal cfDNA screening a general obstetric population (GOP). This study included pregnant individuals results from December 2020 to 2022. Prenatal were classified as due low quality score (LQS) or fetal fraction (LFF). Maternal autoimmune third performed later pregnancy. Data on characteristics analyzed. Among 123 failed screening, 68% LFF 32% LQS. Obesity...
Cryptorchidism, a prevalent congenital defect in pigs, raises animal welfare and economic concerns the breeding industry. This study utilized genome-wide transcriptome analysis, examining samples from pituitary gland, cremaster muscle testis of one-week-old piglets. In cryptorchid piglets,1225 genes exhibited significant differential expression (log2FoldChange = |2.0|, p-adjusted value ≤ 0.01). Downregulated were linked to biological processes like tissue development actin cytoskeleton...
Abstract Objective With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize classification and reporting prenatally detected copy number variants (CNVs) across Belgian genetic centers. This which will link ultrasound findings with postnatal development, forms unique resource to investigate pathogenicity uncertain significance refine phenotypic spectrum pathogenic...
Abstract Objective Belgian genetic centers established a database containing data on all chromosomal microarrays performed in prenatal context. A study was initiated to evaluate postnatal development children diagnosed prenatally with non‐benign copy number variant (CNV). Methods All detected CNV center between May 2013 and February 2015 were included the patient population. The control population consisted of who had undergone an invasive procedure during pregnancy, no or only benign CNVs....
Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This is characterized by severe growth delay, immunodeficiency, dermatological manifestations and predisposition to wide variety of cancers, often multiple very early life. Literature shows that main mode BLM inactivation protein translation termination. We expanded molecular spectrum BS reporting first deep intronic variant causing intron exonisation. describe patient...
Background Participation in quality controls, also called external assessment (EQA) schemes, is required for the ISO15189 accreditation of Medical Centers Human Genetics. However, directives on minimal frequency participation genetic control schemes are lacking or too heterogeneous, with a possible impact health care quality. Objective The aim this project to develop Belgian guidelines controls testing context rare diseases. Methods A group experts analyzed 90 EQA offered by accredited...
In Belgium, approximately 6% of the pregnant population undergoes an invasive procedure. As 2013, samples for prenatal diagnosis are analysed by Chromosomal Microarray Analysis (CMA). Despite existence publicly available copy number variant (CNV) databases, interpretation CNVs remains difficult given often limited phenotypic information. The 8 Belgian genetic centres established national guidelines classification and reporting. Following this uniform reporting policy, idea arose to create a...
<sec> <title>BACKGROUND</title> Participation in quality controls, also called external assessment (EQA) schemes, is required for the ISO15189 accreditation of Medical Centers Human Genetics. However, directives on minimal frequency participation genetic control schemes are lacking or too heterogeneous, with a possible impact health care quality. </sec> <title>OBJECTIVE</title> The aim this project to develop Belgian guidelines controls testing context rare diseases. <title>METHODS</title> A...