Stillbirth & Pregnancy Loss
How genetic changes contribute to spontaneous pregnancy loss and stillbirth has not been studied at scale. The consortium is performing genome sequencing of families who have experienced spontaneous pregnancy loss or stillbirth to better understand the contributing genetic factors, determine if these factors are observed postnatally, and if these factors contribute to changes in mother, fetus, placenta or all three.
Structural Anomalies and Genomics across the Developmental Continuum
Structural anomalies often present on prenatal ultrasound, and the aggregation of genomic sequencing data from many samples with paired phenotype information will inform understanding of prenatal presentations of known genetic conditions; phenotype features associated with specific genetic variants; and how presentation of prenatal changes compares with the genetic variation found in postnatal developmental delay cohorts.
Non-invasive Screening Technology Development
A major effort is development of a high resolution non-invasive prenatal screen (hrNIPS) from maternal blood, that can capture the majority of pathogenic coding variation across variant types (SNV, Indel, CNV). Collectively, the ability to comprehensively assess coding variation in pregnancy with hrNIPS would allow early and non-invasive pregnancy assessment for molecular diagnosis and has the potential to transform the standard of care.
Cloud-based Repository
There is a strong need for a federated database to share prenatal sequencing and phenotype data to improve clinical care and research efforts. This is essential as prenatal phenotypes can be unique, phenotypes can change during gestation, and phenotypes can be more severe prenatally. The IFGC is working towards such a repository in a manner usable by both clinicians and researchers.
