Publicaties
Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers : results from a multicenter study of 36 395 blastocysts Universiteit Gent
ESHRE survey results and good practice recommendations on managing chromosomal mosaicism Vrije Universiteit Brussel KU Leuven
STUDY QUESTION: How should ART/preimplantation genetic testing (PGT) centres manage the detection of chromosomal mosaicism following PGT?
SUMMARY ANSWER: Thirty good practice recommendations were formulated that can be used by ART/PGT centres as a basis for their own policy with regards to the management of 'mosaic' embryos.
WHAT IS KNOWN ALREADY: The use of comprehensive chromosome screening technologies has provided a ...
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing Vrije Universiteit Brussel KU Leuven
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell-free maternal plasma DNA in the maternal blood plasma. However, false positive and negative non-invasive prenatal testing (NIPT) results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide ...
Somatic APC mosaicism Vrije Universiteit Brussel
BACKGROUND: The patient with 10 or more adenomas in the colon poses a diagnostic challenge. Beside germline mutations in the APC and MUTYH genes, only four cases of mosaic APC mutations have been reported.
AIM: Given the relatively high frequency of de novo APC mutations in familial adenomatous polyposis (FAP), an investigation was carried out into whether the proportion of somatic mosaic APC mutations is currently ...
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis Vrije Universiteit Brussel
We investigated the presence and patterns of mosaicism in the APC gene in patients with colon neoplasms not associated with any other genetic variants; we performed deep sequence analysis of APC in at least 2 adenomas or carcinomas per patient. We identified mosaic variants in APC in adenomas from 9 of the 18 patients with 21 to approximately 100 adenomas. Mosaic variants of APC were variably detected in leukocyte DNA and/or non-neoplastic ...