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.