Program seeks Council approval for an initiative titled: “Genomic Predictors of Pregnancy Loss”. The foundation of this proposal is the observation that human reproduction is marked by a high incidence of spontaneous pregnancy loss with only 30% of conceptions resulting in live birth. Fetal aneuploidy (defined as an abnormal number of chromosomes) has been detected in 55% of first trimester losses, but only 35% of second trimester and 5% of third trimester losses. While non-genetic etiologies undoubtedly contribute to these losses, more subtle genetic abnormalities and variants may be causal and have not yet been systematically explored. The advent of whole genome sequencing and other genomic approaches at reasonable costs paired with improved bioinformatics provide a novel opportunity to investigate the role of genetics in pregnancy loss.
The clinical question to be answered is whether emerging genomic screening approaches can identify variants or mutations which predict risk for embryonic/fetal loss in subsequent pregnancies beyond standard karyotype approaches with the ultimate hope that this information will be informative for counseling patients regarding their best reproductive options in future pregnancies.
This initiative aligns with: 1) the Aspirational Goal, “Identify genomic changes and exposure risks that explain or predict fetal loss, using advanced technological approaches”, 2) Theme 2 of the NICHD Strategic Plan 2020, “Promoting Gynecologic, Andrologic, and Reproductive Health” which includes to “Identify biologic, social, and environmental factors that can lead or contribute to … early pregnancy loss”, and 3) Theme 3, “Setting the Foundation for Health Pregnancies and Lifelong Wellness,” specifically “NICHD will strive to understand contributors to … pregnancy loss”.
Program Contact
Lisa Halvorson
Gynecologic Health & Disease Branch (GHDB)
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