Genomic imbalances in the placenta are associated with poor fetal growth

Abstract Background Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through adulthood. Although placental insufficiency, failure supply the fetus adequate nutrients, underlies most cases FGR, its causes are diverse not fully understood. One few diagnosable insufficiency ongoing pregnancies presence large chromosomal imbalances such as trisomy confined placenta; however, impact smaller copy number variants (CNVs) has yet been adequately addressed. In this study, we confirm importance aneuploidy, assess potential contribution CNVs fetal growth. Methods We used molecular-cytogenetic approaches identify aneuploidy placentas from 101 infants born small-for-gestational age (SGA), typically a surrogate 173 non-SGA controls uncomplicated pregnancies. confirmed aneuploidies assessed mosaicism by microsatellite genotyping. then profiled using high-resolution microarrays subset 53 SGA 61 control euploid placentas, compared load, impact, gene enrichment clinical relevance between groups. Candidate were quantitative PCR. Results Aneuploidy was over tenfold more frequent SGA-associated (11.9% vs. 1.1%; p = 0.0002, OR 11.4, 95% CI 2.5–107.4), placenta, involved autosomes, whereas only sex chromosome abnormalities observed controls. found no significant difference CNV load or placental-expressed imprinted genes controls, rare likely clinically-relevant germline identified 5.7% cases. These candidate INHBB , HSD11B2 CTCF CSMD3 . Conclusions conclude that genomic at cytogenetic submicroscopic level may underlie up ~ 18% our population. This work contributes understanding underlying which important counselling prediction long term outcomes affected