Parental origin and clinical phenotype of 15q11-q13 duplications discovered as maternal secondary findings with NIPT
Aim of the study: to retrospectively investigate the incidence of maternal 15q11-q13 duplications in the population through the analysis of NIPT data from pregnant women in Belgium. We test the hypothesis that 15q11-q13 duplications of maternal origin cause more pronounced clinical symptoms, while duplications of paternal origin have a milder or even no effect in these women.
Detection of genomic aberrations in the fetus via circulating cell-free plasma DNA of pregnant women
Aim of the study: to extend the routine NIPT analysis with a new technique, called dynamic GipSeq, to detect other specific fetal abnormalities in addition to trisomy 21, 18 and 13. The study aims to prospectively test the accuracy for detecting:
- 22q11 deletion syndrome
- Prader-Willi/Angelman syndrome
- Smith Magenis syndrome
- 8p23.1 deletion syndrome
These smaller fetal abnormalities can lead to developmental delay and other developmental disorders that are sometimes more serious than Down syndrome.