Dominique Smeets is clinical laboratory genetisist and head of the team Fertility and Pregnancy
Within our team genetic diagnostics is mainly focussed on (in)-fertility and pregnancy. Genetic analysis can be carried out before (prenatal) or after (postnatal) birth.
Prenatal studies, performed on amniotic fluid cells or chorionic villi, are performed in order to detect a potential chromosomal abnormality in the fetus. Indications for amniocenteses or chorionic villi biopsy can be for instance an increased risk for having a fetus with Down syndrome based on a screening test in the mother, family history, or ultrasound anomalies detected in the fetus.
Frequent indications for postnatal genomic studies are sub- or infertility, multiple unexplained spontaneous miscarriages, potential sex chromosomal abnormalities (e.g. Turner syndrome) or unclear gender. Biopsies from intrauterine deceased children are often studied too, in search for the cause of the fetal demise. Finally, the so-called chromosome breakage syndromes like Ataxia Telangiectasia, Fanconi anemia, Bloom syndrome and Nijmegen Breakage syndrome are important focusses within our team.
Chorionic villi, amniotic fluid cells, blood samples, skin biopsies, buccal cells
Tissue culturing, routine karyotyping, fluorescence in situ hybridization (FISH), QF-PCR and whole genome SNP array (Affymetrix; applied in both pre- and postnatal diagnostics).