Value of prenatal chromosomal microarray analysis (CMA) in isolated foetal growth restriction diagnosed before 26 weeks of gestation
DOI:
https://doi.org/10.20883/medical.e1600Keywords:
fetal growth restriction, isolated early-onset FGR, chromosomal microarray analysis, QF-PCR, diagnostic yield, prenatal geneticsAbstract
Aim. To evaluate the diagnostic yield of amniocentesis with quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) in pregnancies with apparently isolated at the time of pre-amniocentesis assessment early-onset foetal growth restriction (FGR) diagnosed before 26 weeks of gestation and to explore associations with perinatal outcomes.
Material and methods. This retrospective cohort study was conducted at a tertiary perinatal centre in Poland. From 1655 amniocenteses performed between 2018 and 2023, we identified 31 singleton pregnancies with isolated FGR (EFW/AC <3rd percentile) before 26 weeks, excluding all cases with structural anomalies or major maternal confounders. All cases underwent QF-PCR and CMA. Descriptive statistics and group comparisons were performed.
Results. Abnormal genetic results were found in 9/31 cases (yield 29.0%; 95% CI 14.2–48.0%), including 3 triploidies and 6 pathogenic/likely pathogenic CNVs CMA provided an incremental yield of 19.4% over QF-PCR alone. Mean gestational age at delivery was 32.4 weeks, and adverse perinatal outcomes occurred in 29% of cases.
Conclusions. In isolated early-onset FGR before 26 weeks, QF-PCR combined with CMA achieved a high diagnostic yield of 29%. These findings support routine use of CMA in this high-risk subgroup and highlight the prognostic importance of genetic testing.
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