Description of study participants
Our pilot study included patients who received care at the University of
Utah and had suffered at least two pregnancy losses with at least one
uncomplicated live birth and in whom evaluation for accepted causes of
sporadic and recurrent pregnancy loss had proven
negative.7,17 Not all cases had complete evaluations
which were performed at the discretion of the providers. This study was
approved by the Institutional Review Board (IRB) of the University of
Utah (IRB #: 00055018; date: 3/13/2019) and all participants gave
informed consent. Pregnancy losses in these patients included embryonic
losses (<10 weeks), fetal deaths (10-20 weeks) and/or
stillbirths (≥20 weeks). Data regarding medical and reproductive
examinations (e.g., uterine abnormalities, parental karyotypic and
chromosomal microarray abnormalities, endocrinopathies including
diabetes) were obtained by medical record abstraction and patient
interview. In this pilot study, we included four families with available
biospecimens from parents their products of conception (pregnancy losses
and live births) for DNA sequencing.