Ioakeim Sapantzoglou: New Perspectives on Fetal Growth Restriction and Genetic Testing
Ioakeim Sapantzoglou, Obstetrician- Subspecialty in Fetal Medicine at Alexandra Hospital, shared a post on LinkedIn:
“I’m pleased to share our recent systematic review and meta-analysis published in Prenatal Diagnosis, evaluating the incremental diagnostic yield of chromosomal microarray analysis (CMA) over conventional karyotyping in fetuses with fetal growth restriction (FGR).
What we did:
We analyzed 22 observational studies including 2,275 pregnancies with FGR, following PRISMA guidelines, and compared how often CMA detects clinically significant genetic abnormalities that are missed by standard karyotyping.
Key findings:
Isolated FGR: CMA provides an additional 3% diagnostic yield beyond karyotype
FGR with soft markers or non-structural findings: 4% incremental yield
FGR with structural anomalies (malformed FGR): 10% incremental yield
Why this matters:
These results support the role of CMA in refining prenatal diagnosis and improving genetic counseling and risk stratification, even in cases of apparently isolated FGR. The diagnostic benefit is substantially higher when FGR is accompanied by structural abnormalities, but remains clinically relevant even without additional findings.
Clinical implication:
CMA should be strongly considered in the prenatal evaluation of FGR to support individualized counseling, informed decision-making, and optimized perinatal management.
Grateful to all co-authors for this collaboration and to the teams whose data contributed to this analysis.”
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