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CME Credit Offered
CME Credit Offered
Abstract Award
Abstract Award
Recording available 2/16-5/2
Recording available 2/16-5/2
AIUM Credit
AIUM Credit
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Foundation Awardee
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Abstract Award
Abstract Award
Foundation Awardee
Foundation Awardee

Poster Session 4

Category: Ultrasound/Imaging

Poster Session 4

(1199) cfDNA and adverse outcomes with severe fetal growth restriction

Thursday, February 12, 2026
3:30 PM - 5:00 PM  
Objective:
In many cases of fetal growth restriction (FGR), the underlying cause is unknown. Confined placental mosaicism (CPM), including of rare autosomal trisomies (RAT), is reported to account for up to10% of cases. This study examined the utility of prenatal cell-free DNA (cfDNA) screening via whole-genome sequencing (WGS) to identify CPM of RAT at diagnosis of unexplained severe early onset FGR. We also assessed the association of total cfDNA concentration and fetal fraction with FGR-related adverse outcomes.

Study Design:
This prospective, multicenter study enrolled singletons with unexplained severe FGR < 34 weeks, defined as estimated fetal weight (EFW) ≤5%ile, EFW ≤10%ile with abnormal umbilical artery Dopplers, or EFW ≥2 weeks below expected if < 24 weeks. Those with an identifiable etiology for FGR were excluded. Blood samples were collected at FGR diagnosis, and cfDNA screening was performed using Illumina’s Research Use Only pipeline with analysis of all chromosome aneuploidies and copy number variants ≥7Mb. cfDNA sample metrics were collected from the laboratory, and clinical outcomes were obtained from the medical record.

Results:
A total of 68 cases were enrolled at mean 30 ± 3 weeks. Mean maternal age was 34 ± 6.8 years, mean BMI was 28 ± 8.3 kg/m2, and the cohort was 25% Asian, 6% Black, 22% Hispanic, and 35% non-Hispanic White. No cases of aneuploidy, including RAT, were identified. Total cfDNA concentration was significantly higher in cases that developed a hypertensive disorder of pregnancy (HDP) (518.4 vs 110.5 pg/uL, p=0.004) and in cases that delivered preterm (539.1 vs 105.5 pg/uL, p=0.04). There were no differences in fetal fraction (FF) in those who developed HDP, while FF was significantly lower in those who delivered preterm (17.4% vs 22.5%, p=0.001).

Conclusion:

In this cohort of unexplained severe early onset FGR, no cases of RAT were identified via WGS of cfDNA. Significantly higher total cfDNA was seen in those with more severe placental dysfunction. This adds to existing literature linking cfDNA concentration, placental dysfunction, and adverse outcomes.