chromosomal abnormalities Trisomy
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Subjects meeting all of the following criteria will be considered eligible for enrollment in the study. 1. Subject is at least 18 years old and can provide informed consent; 2. Subject has a viable singleton or twin pregnancy; 3. Subject is confirmed to be at least 10 weeks, 0 days gestation at the time of the study blood draw; 4. Subject is planning to undergo CVS and/or amniocentesis for the purpose of genetic analysis of the fetus because of a suspected fetal chromosomal anomaly based on cfDNA test results, standard serum screening result, or fetal ultrasound abnormality. 5. OR the subject has already undergone CVS and/or amniocentesis and is known to have a fetus with a chromosomal abnormality confirmed by genetic analysis.
Exclusion criteria
Exclusion criteria: Subjects meeting any of the following criteria will be excluded from the study: 1. Subject (the mother) has known aneuploidy or copy number variant (CNV); 2. Subject is pregnant with more than two fetuses or has had sonographic evidence of three or more gestational sacs at any time during pregnancy; 3. Subject has a fetal demise (including natural or elective reduction) identified prior to consent; 4. Subject has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Results of available fetal chromosomal analysis done as part of routine clinical care (e.g., fluorescent in situ hybridization [FISH], QF-PCR, array, and/or fetal karyotyping * either from chorionic villus sampling, amniocentesis or fetal tissue or blood sampling) will be documented for all women enrolled. The assignment of chromosomal conditions for subject classification will be based on the clinical reference standard of genetic analysis of the fetus. | — |
Countries
Netherlands
Outcome results
None listed