Genetics Etiologies Associated with Fetal Growth Restriction

Abstract

Fetal growth restriction (FGR) is associated with multiple adverse perinatal outcomes, such as increased risk of intrauterine death, neonatal morbidity and mortality, and long-term adverse outcomes. Genetic etiological factors are critical in fetuses with intrauterine growth restriction, including chromosomal abnormalities, copy number variants, single gene disorders, uniparental disomy, epigenetic changes, and confined placental mosaicism. This paper aims to provide an overview of genetic defects related to FGR and to highlight the importance of prenatal genetic counseling and testing for precise diagnosis and management of FGR.

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting

“…Several recent meta-analyses have demonstrated an added diagnostic yield of 1.8–68% for prenatal WES, with the yield largely depending on the inclusion criteria and organ system affected 31 – 33 . When FGR is associated with multisystem structural abnormalities, trio WES should be recommended and offered 34 , 35 .…”