genetic disorders
Conditions
Interventions
None listed
Sponsors
Medisch Universitair Ziekenhuis Maastricht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Pregnant women and their partners (18+) of which: Group 1: the woman is pregnant after PGD for a chromosomal anomaly or monogenic disorder Group 2: the fetus is at risk for a chromosomal anomaly because of an adverse result of regular NIPT testing (Dutch TRIDENT-1 or -2 study) for aneuploidy with or without additional findings. Group 3: the foetus is at high risk of having a de novo disorder on the basis of ultrasonography findings and couple will undergo PND Group 4: the fetus is at high risk of having inherited a dominant or recessive disorder of his/her affected parent(s) and couple ask for conventional PND General: - the pregnant woman and partner are 18 years or older - the pregnant woman has sufficient understanding of Dutch language and is able to give informed consent.
Exclusion criteria
Exclusion criteria: - in the opinion of the treating physician psychological distress is so severe that asking for participation is not safe. - the pregnant woman is treated for a malignancy - patients in group 1 (testing performed with only PCR or OnePGT for monogenic disorders), group 3 and 4 will be excluded from this study if they do not opt for NIPT (with/without additional findings) or PND (with at least a QF PCR of chromosomes 13, 18, 21)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Develop a non-invasive prenatal test for chromosomal and monogenic abnormalities in the pregnant woman's blood. Doest targeted/genome-wide molecular analysis of cell-free DNA or RNA indicate: - the presence or absence of fetal mutation (s) in maternal plasma - the presence of sufficient concentration of fetal DNA / RNA in maternal plasma to enable reliable diagnosis of monogenic disorders. - the presence of aneuploidies, structural abnormalities, and monogenic disorders - when and how the aberrant cells disappear during prenatal development | — |
Countries
Netherlands
Outcome results
None listed