Research
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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Expertises

Chromosomal abnormalities, Prenatal diagnostics, Non-invasive prenatal testing, genetic counselling

Main research areas

Chromosomal imbalances detected in patients with intellectual disability, congenital malformations and dysmorphic features and fetuses with malformations are often unique or very rare. Thus, the clinical significance of the findings may remain uncertain, which complicates genetic counselling. We collaborate with Clinical Genetic Departments worldwide via DECIPHER in order to delineate new microdeletion and -duplication syndromes.

 

Chromosomal rearrangements can cause long-range position effects by deleting or displacing regulatory elements. In collaboration with the Wilhelm Johannsen Centre, University of Copenhagen, we map both balanced and unbalanced chromosomal rearrangements to identify regulatory genomic domains and elements for known and novel disease genes. Furthermore, a number of molecular cytogenetic projects are carried out to increase knowledge relevant for genetic counselling of families with e.g. inversions and insertions. “

 

Research in non-invasive prenatal testing (NIPT) investigates the possibility of deducing fetal chromosomal aberrations in DNA purified from a maternal blood sample, hence eliminating the procedural miscarriage risk of invasive sampling. Using shallow whole genome sequencing our main focus is a reliable non-invasive detection of fetal trisomies. Further interest areas include detection of trisomies in twin pregnancies including estimation of the DNA contribution from each twin, and the detection of deletions and duplications.

Current research

Same as main research areas

Potential conflicts of interest

No

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