chromosomal anomalies monogenic diseases
Conditions
Interventions
None listed
Sponsors
Medisch Universitair Ziekenhuis Maastricht
Eligibility
Inclusion criteria
Inclusion criteria: Couple undergoed IVF/PGD treatment for a monogenic disease or chromosomal disorder (diagnosed by aCGH )
Exclusion criteria
Exclusion criteria: Couples unable to give informed consent to all aspects of the study or unable to comply with the protocol.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Research phase Percentage invalid results for monogenic disorders in blastomere cells and in trophectoderm cells for chromosomal disorders in in blastomere cells and in trophectoderm cells for chromosomalaneuploidy in blastomere cells and in trophectoderm cells Verification phase Sensitivity of the NGS-based haplotyping method for monogenic disorders in blastomere cells and in trophectoderm cells for chromosomal disorders in in blastomere cells and in trophectoderm cells for chromosomalaneuploidy in blastomere cells and in trophectoderm cells | — |
Countries
Netherlands
Outcome results
None listed