This review evaluated the role and yield of genetic testing — including chromosomal microarray analysis (CMA) and exome sequencing (ES) — in fetal growth restriction (FGR), comparing isolated FGR versus FGR with structural anomalies, and proposing a phenotype-driven clinical framework.
CMA adds ~3% incremental yield over karyotyping in isolated FGR (pathogenic/likely pathogenic findings 0%–8.1%), rising to ~10% when structural anomalies are present; after non-diagnostic CMA, ES yields pathogenic diagnoses in ~7%–18% of selected isolated cases and >30% in cohorts with structural anomalies.
ES data are limited by small sample sizes and heterogeneous FGR definitions across studies, making yield estimates difficult to generalize; the proposed role of the sFlt-1/PlGF ratio to distinguish placental-mediated from genetic FGR is hypothesis-generating only.
For FGR with structural anomalies, proceed to CMA (and ES if CMA is non-diagnostic). For apparently isolated FGR, use fetal phenotype — especially disproportionately short long bones and absence of placental insufficiency markers — to guide escalation to ES.
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