Genetic Sequencing
Are you and your partner seeking answers about the cause of your last pregnancy loss and wondering if there is a genetic cause?
We are seeking couples who have experienced 2 or more clinical pregnancy losses AND at least one documented chromosomally normal pregnancy loss.
Participants who have chromosomally normal pregnancy loss tissue available will be invited to undergo sequencing. The human genome is large and many changes in our genetic code do not cause disease, but other changes may explain a clinical problem such as miscarriage. Researchers will compare DNA sequences from mothers, fathers. and pregnancy losses to improve our understanding of novel genetic causes of miscarriage.
Genetic trios composed of mother, father, and past pregnancies will undergo whole genome sequencing and trio analysis. In some cases, where a genetic causes is suspected based on medical history, sequencing may be offered even if a complete trio is not available. Living siblings, and additional family members, may provide DNA when available, as this may assist in determining significance of unknown variants. In addition, couples will be asked to provide a hair sample, optionally, in order to assess for environmental toxins and stress hormones. Enrolled subjects may opt to receive actionable genetic variants that are identified in the trio analysis. Financial compensation is available for couples who are able to provide a complete trio of samples (mother-father-pregnancy loss).
After verifying eligibility and receiving consent to participate, the couples will
Complete an online survey with questions about your medical and pregnancy history and your medical record will be reviewed for inclusions and exclusion criteria.
Receive a study kit in order to provide a sample (either blood or saliva) for DNA analysis, and optionally a hair sample for environmental exposures.
Tissue from your miscarriage or miscarriages will be analyzed for genetic mutations and changes.
Tissue and DNA from miscarriages and pregnancy losses potentially can be obtained from past miscarriages through contacting the laboratory or hospital where your miscarriage was diagnosed and managed. A study coordinator will assist you in obtaining tissue from past losses. If you happen to have a miscarriage during the observation period please contact us, we can help you collect this tissue for analysis, by mailing you a kit or instructions.
In some cases, you may be asked to contact family members if their DNA may help us understand the importance of genetic changes found in your analysis.
Participating family members including children may not have whole genome sequencing but have targeted gene analysis.
Be contacted via email to complete an online survey to update your medical and pregnancy history every 6 months for up to 5 years.
If you have a successful pregnancy, you will be asked to provide a DNA sample from your baby or child.
If you are planning pregnancy, you may be asked to participate in cohort 2 of our study in which additional actions will be taken to examine the function of the genes and the immune system. This is described below and will also be explained to you if eligible.
You may not eligible for RPL sequencing if...
The birthing person has Antiphospholipid Antibody Syndrome
You used a donor or gestational carrier
You have been diagnosed with congenital uterine anomaly
Either parent is a recipient of a bone marrow transplant
Patients enrolled and screened in cohort 1, who are determined to be ineligible for sequencing, due to exclusion criteria or inadequate tissues, will be invited to stay in the registry for clinical observation by use of surveys, and will have the option to provide prospective pregnancy loss tissue should another miscarriage occur.